業績一覧（2011年以降）

英文論文

1. Akiba K, Hasegawa Y, Katoh-Fukui Y, Terao M, Takada S, Hasegawa T, Fukami M, Narumi S:　POU1F1/Pou1f1 c.143-83A>G variant disrupts the branch site in pre-mRNA and leads dwarfism.　Endocrinology　2022;164(2):bqac198
2. Urakawa T, Ozawa J, Tanaka M, Narusawa H, Matsuoka K, Fukami M, Nagasaki K, Kagami M:　Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.　Eur J Med Genet　2023;66(1):104671
3. Tamaoka S, Saito K, Yoshida T, Nakabayashi K, Tatsumi K, Kawamura T, Matsuzaki T, Matsubara K, Ogata-Kawata H, Hata K, Kato-Fukui Y, Fukami M:　Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome.　Reprod Med Biol　2023;22(1):e12504
4. Katoh-Fukui Y, Hattori A, Zhang R, Terao M, Takada S, Nakabayashi K, Hata K, Yamada Y, Matsuura N, Fukami M:　Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.　Hum Mol Genet　2023 in press
5. Iwahashi-Odano M, Kitamura M, Narumi S:　A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8.　Clin Pediatr Endocrinol　2023;32(1):65
6. Morikawa H, Nishina S, Torii K, Hosono K, Yokoi T, Shigeyasu C, Yamada M, Kosuga M, Fukami M, Saitsu H, Azuma N, Hori Y, Hotta Y:　A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.　Hum Genome Var　2023;10(1):9
7. Azuma N, Yokoi T, Tanaka T, Matsuzaka E, Saida Y, Nishina S, Terao M, Takada S, Fukami M, Okamura K, Maehara K, Yamasaki T, Hirayama J, Nishina H, Handa H, Yamaguchi Y:　Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.　Hum Mol Genet　2023 in press
8. Sugisawa C, Narumi S, Tanase-Nakao K, Ayako H, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K:　Adult Thyroid Outcomes of Congenital Hypothyroidism.　Thyroid　2023 in press
9. Uchida N, Mizuno Y, Seno S, Koyama Y, Takahashi T, Shibata H, Narumi S, Hasegawa T, Ishii T:　A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly.　Clin Pediatr Endocrinol　2023;32(1):79-81
10. Hirai M, Yagasaki H, Kanezawa K, Ueno M, Shimozawa K, Imai K, Morio T, Kato M, Gocho Y, Narumi S, Ebihara Y, Morioka I:　Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis: SAMD9 / SAMD9L Germline Mutation.　J Pediatr Hematol Oncol　2023;45(2):e290-e293
11. Takezawa Y, Iwai M, Fujiki Y, Yokomizo R, Kishigami H, Miyado M, Kawano N, Yamada M, Shindo M, Suzuki M, Sato B, Katano D, Kamijo S, Hamatani T, Tanaka M, Umezawa A, Kang W, Miyado K:　Embryonic β-catenin is required for priming of the uterus to implantation.　Lab Invest　2023;103(3):100026
12. Ariyasu D, Nagamatsu F, Aso K, Akiba K, Hasegawa Y:　Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty.　Endocr J　2023;70(1):59-67
13. Narumi S:　Genome-wide association studies for thyroid physiology and diseases.　Endocr J　2023;70(1):9-17
14. Hara-Isono K, Matsubara K, Nakamura A, Sano S, Inoue T, Kawashima S, Fuke T, Yamazawa K, Fukami M, Ogata T, Kagami M:　Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes.　Clin Epigenetics　2023;15(1):78.
15. Katoh-Fukui Y, Hattori A, Zhang R, Terao M, Takada S, Nakabayashi K, Hata K, Yamada Y, Matsuura N, Fukami M:　Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.　Hum Mol Genet　2023 in press.
16. Ogiwara Y, Hattori A, Ikegawa K, Hasegawa Y, Kuroki Y, Miyado M, Fukami M:　Optical genome mapping for a patient with a congenital disorder and chromosomal translocation.　Cytogenet Genome Res　2023 in press.
17. Sugisawa C, Narumi S, Tanase-Nakao K, Ayako H, Suzuki N, Ohye H, Fukushita M, Matsumoto M, Yoshihara A, Watanabe N, Sugino K, Hishinuma A, Noh JY, Katoh R, Taniyama M, Ito K:　Adult thyroid outcomes of congenital hypothyroidism.　Thyroid　2023;33(5):556-565.
18. Azuma N, Yokoi T, Tanaka T, Matsuzaka E, Saida Y, Nishina S, Terao M, Takada S, Fukami M, Okamura K, Maehara K, Yamasaki T, Hirayama J, Nishina H, Handa H, Yamaguchi Y:　Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.　Hum Mol Genet　2023;32(12):2032-2045.
19. Saito K, Nakagawa R, Narumi S, Ohashi H, Ishiguro A, Kabe K:　A small-for-gestational-age infant with MIRAGE syndrome who developed heat stroke and rhabdomyolysis due to severe temperature instability.　Neonatology　2023 in press.   
20. Oto Y, Murakami N, Imatani K, Inoue T, Itabashi H, Shiraishi M, Nitta A, Matsubara K, Kobayashi S, Ihara H, Nagai T, Matsubara T:　Perinatal and neonatal characteristics of Prader-Willi syndrome in Japan.　Pediatr Int　2023 in press.
21. Masunaga Y, Fujisawa Y, Massart F, Spinelli C, Kojima Y, Mizuno K, Hayashi Y, Sasagawa I, Yoshida R, Kato F, Fukami M, Kamatani N, Saitsu H, Ogata T:　Microdeletion at ESR1 intron 6 (DEL_6_75504) is a susceptibility factor for cryptorchidism and hypospadias. J Clin Endocrinol Metab　2023 in press. 
22. Saito-Abe M, Nishizato M, Yamamoto-Hanada K, Yang L, Fukami M, Ito Y, Ihara K, Iwabuchi A, Okamoto S, Naiki Y, Ohya Y, Horikawa R:　Comparison of physician- and self-assessed pubertal onset in Japanese children.　Front Pediatr　2023;11:950541.
23. Suzuki E, Miyado M, Kuroki Y, Fukami M:　Genetic variants of G-protein coupled receptors associated with pubertal disorders.　Reprod Med Biol　2023;22(1):e12515.
24. Hattori A, Fukami M:　Nuclear receptor gene variants underlying disorders/differences of sex development through abnormal testicular development.　Biomolecules　2023;13(4):691.
25. Tamaoka S, Fukuda A, Nakabayashi K, Matsubara K, Ogata-Kawata H, Muranishi Y, Hata K, Kato-Fukui Y, Sakamoto S, Kasahara M, Fukami M:　Rare sequence variants associated with the risk of non-syndromic biliary atresia.　Hepatol Res　2023 in press.   
26. Katoh-Fukui Y, Hattori A, Zhang R, Terao M, Takada S, Nakabayashi K, Hata K, Yamada Y, Matsuura N, Fukami M:　Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.　Hum Mol Genet　2023;32(14):2318-2325.
27. Torii K, Nishina S, Morikawa H, Mizobuchi K, Takayama M, Tachibana N, Kurata K, Hikoya A, Sato M, Nakano T, Fukami M, Azuma N, Hayashi T, Saitsu H, Hotta Y:　The structural abnormalities are deeply involved in the cause of RPGRIP1-related retinal dystrophy in Japanese patients.　Int J Mol Sci　2023;24(18):13678.
28. Fujisawa Y, Masunaga Y, Tanikawa W, Nakashima S, Ueda D, Sano S, Fukami M, Saitsu H, Yazawa T, Ogata T:　Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: implications for hormonal diagnosis.　J Steroid Biochem Mol Biol　2023 in press.
29. Takeuchi I, Tanase-Nakao K (co-first), Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A:　Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.　J Med Genet　2023 in press.
30. Eggermann T, Monk D, de Nanclares GP, Kagami M, Giabicani E, Riccio A, Tümer Z, Kalish JM, Tauber M, Duis J, Weksberg R, Maher ER, Begemann M, Elbracht M:　Imprinting disorders.　Nat Rev Dis Primers　2023;9(1):33.
31. Kuroki Y, Fukami M:　Y Chromosome genomic variations and biological significance in human diseases and health.　Cytogenet Genome Res　2023 in press.
32. Tamaoka S, Fukuda A, Nakabayashi K, Matsubara K, Ogata-Kawata H, Muranishi Y, Hata K, Kato-Fukui Y, Sakamoto S, Kasahara M, Fukami M:　Rare sequence variants associated with the risk of non-syndromic biliary atresia.　Hepatol Res　2023;53(11):1134-1141.
33. Urakawa T, Sano S, Kawashima S, Nakamura A, Shima H, Ohta M, Yamada Y, Nishida A, Narusawa H, Ohtsu Y, Matsubara K, Dateki S, Maruo Y, Fukami M, Ogata T, Kagami M:　(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B.　Eur J Endocrinol　2023;189(6):590-600.
34. Yoshida T, Matsubara K, Ogata-Kawata H, Miyado M, Ishiwata K, Nakabayashi K, Hata K, Kageyama I, Tamaoka S, Shimada Y, Fukami M, Sasaki S:　Variations in gender identity and sexual orientation of university students.　Sex Med　2023;11(5):qfad057.
35. Masunaga Y, Fujisawa Y, Massart F, Spinelli C, Kojima Y, Mizuno K, Hayashi Y, Sasagawa I, Yoshida R, Kato F, Fukami M, Kamatani N, Saitsu H, Ogata T:　Microdeletion at ESR1 intron 6 (DEL_6_75504) is a susceptibility factor for cryptorchidism and hypospadias. J Clin Endocrinol Metab　2023;108(10):2550-2560.
36. Fujisawa Y, Masunaga Y, Tanikawa W, Nakashima S, Ueda D, Sano S, Fukami M, Saitsu H, Yazawa T, Ogata T:　Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: implications for hormonal diagnosis.　J Steroid Biochem Mol Biol　2023;234:106403.
37. Hijikata A, Suyama M, Matoba R, Kikugawa S, Naruto T, Enomoto Y, Kurosawa K, Harada N, Kaname T, Yanagi K, Miyako K, Takazawa M, Sasai H, Hosokawa J, Itoga S, Yamaguchi T, Kosho T, Matsubara K, Kuroki Y, Fukami M, Adachi K, Nanba E, Tsuchida N, Uchiyama Y, Matsumoto N, Nishimura K, Ohara O：　Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation dna sequencing.　Nucleic Acids Res　2023 in press.
38. Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T:　Single-exon deletions of ZNRF3 exon 2 cause congenital adrenal hypoplasia.　J Clin Endocrinol Metab　2023 in press.
39. Torii K, Nishina S, Morikawa H, Mizobuchi K, Takayama M, Tachibana N, Kurata K, Hikoya A, Sato M, Nakano T, Fukami M, Azuma N, Hayashi T, Saitsu H, Hotta Y:　The structural abnormalities are deeply involved in the cause of RPGRIP1-related retinal dystrophy in Japanese patients.　Int J Mol Sci　2023;24(18):13678.

英文論文

1. Matsubara K, Hattori T, Narumi S. Achievement of developmental milestones recorded in real time: A mobile app-based study. J Pediatr. 2022; 245: 201-207
2. Fukami M, Shindo J, Ogata T, Kageyama I, Kamimaki T. SHOX far-downstream deletion in a patient with non-syndromic short stature. Am J Med Genet. 2022; 188(7): 2173-2177
3. Fujisawa Y, Ono H, Konno A, Yao I, Itoh H, Baba T, Morohashi K, Katoh-Fukui Y, Miyado M, Fukami M, Ogata T. Intrauterine hyponutrition reduces fetal testosterone production and postnatal sperm count in the mouse. J Endocr Soc. 2022; 6(4): bvac022
4. Aoto S, Hangai M, Ueno-Yokohata H, Ueda A, Igarashi M, Ito Y, Tsukamoto M, Jinno T, Sakamoto M, Okazaki Y, Hasegawa F, Ogata-Kawata H, Namura S, Kojima K, Kikuya M, Matsubara K, Taniguchi K, Okamura K. Collection of 2429 constrained headshots of 277 volunteers for deep learning. Sci Rep. 2022; 12(1): 3730
5. Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z. Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences. Clin Epigenetics. 2022; 14(1): 41
6. Campbell D, Reyes M, Kaygusuz SB, Abali S, Guran T, Bereket A, Kagami M, Turan S, Jüppner H. A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B. Bone. 2022; 157: 116344
7. Sato B, Kanai S, Sakaguchi D, Yajima K, Matsumoto Y, Morohoshi K, Kagaya S, Izumo N, Ichinose M, Kang W, Miyado M, Miyado K, Kawano N. Suppressive role of lactoferrin in overweight-related female fertility problems. Nutrients. 2022; 14(5): 938
8. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system. J Hum Genet. 2022; 67(10): 607-611
9. Narusawa H, Sasaki S, Hara-Isono K, Matsubara K, Fukami M, Nagasaki K, Kagami M. A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMR. Eur J Med Genet. 2022; 65(6): 104502
10. Tamaoka S, Fukuda A, Katoh-Fukui Y, Hattori A, Uchida H, Shimizu S, Yanagi Y, Kanaan SB, Sakamoto S, Kasahara M, Yoshioka T, Fukami M. Quantification of maternal microchimeric cells in the liver of children with biliary atresia. J Pediatr Gastroenterol Nutr. 2022; 74(4): e83-e86
11. Tanase-Nakao K, Muroya K, Adachi M, Abe K, Hasegawa T, Narumi S. A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation. Clin Pediatr Endocrinol. 2022; 31(4): 250-255
12. Narumi S, Opitz R, Nagasaki K, Muroya K, Asakura Y, Adachi M, Abe K, Sugisawa C, Kühnen P, Ishii T, Nöthen MM, Krude H, Hasegawa T. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling. Hum Mol Genet. 2022; 31(23): 3967-3974
13. Sato T, Ishii T, Fukami M, Ogata T, Hasegawa T. The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration. Congenit Anom (Kyoto). 2022; 62(3): 136-137
14. Okamoto M, Hamada J, Ochi F, Fukami M, Eguchi M. Short stature in a child with a novel Aggrecan gene variant: A case report. Pediatr Int. 2022; 64(1): e15116
15. Kyodo R, Takeuchi I, Narumi S, Shimizu H, Hata K, Yoshioka T, Tanase-Nakao K, Shimizu T, Arai K. Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report. Clin Immunol. 2022; 238: 109015
16. Kawasaki Y, Sato T, Nakano S, Usui T, Narumi S, Ishii T, Hasegawa T. High-dose fludrocortisone therapy was transiently required in a female neonate with 21-hydroxylase deficiency. Clin Pediatr Endocrinol. 2022; 31(2): 93-97
17. Kang W, Ishida E, Amita M, Tatsumi K, Yonezawa H, Yohtsu M, Katano D, Onozawa K, Kaneko E, Iwasaki W, Naito N, Yamada M, Kawano N, Miyado M, Sato B, Saito H, Saito T, Miyado K. Trehalose suppresses lysosomal anomalies in supporting cells of oocytes and maintains female fertility. Nutrients. 2022; 14(10): 2156
18. Kang W, Katano D, Kawano N, Miyado M, Miyado K. Extra-mitochondrial citrate synthase controls cAMP-dependent pathway during sperm acrosome reaction in mice. MicroPubl Biol. 2022; 10.17912
19. Ikegawa K, Hachiya R, Akiba K, Hasegawa Y. Oral disintegrating desmopressin tablet is effective for partial congenital nephrogenic diabetes insipidus with AVPR2 mutation: A case report. Clin Pediatr Endocrinol. 2022; 31(2): 87-92
20. Hara-Isono K, Nakamura A, Fuke T, Inoue T, Kawashima S, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Pathogenic copy number and sequence variants in children born SGA with short stature without imprinting disorders. J Clin Endocrinol Metab. 2022; 107(8): e3121-e3133
21. Kawashima S, Yuno A, Sano S, Nakamura A, Ishiwata K, Kawasaki T, Hosomichi K, Nakabayashi K, Akustu H, Saitsu H, Fukami M, Usui T, Ogata T, Kagami M. Familial pseudohypoparathyroidism type 1B caused by an SVA retrotransposon insertion on the GNAS locus. J Bone Miner Res. 2022; 37(10): 1850-1859
22. Hara-Isono K, Yamazawa K, Tanaka S, Nishi E, Fukami M, Kagami M. CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR. J Med Genet. 2022; 59(12): 1241-1246
23. Hattori A, Okuyama T, So T, Kosuga M, Ichimoto K, Murayama K, Kagami M, Fukami M, Fukuhara Y. Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome. Hum Genome Var. 2022; 9(1): 32
24. Masunaga Y, Ohkubo Y, Nishimura G, Ueno T, Fujisawa Y, Fukami M, Saitsu H, Ogata T. ACAN biallelic variants in a girl with severe idiopathic short stature. J Hum Genet. 2022; 67(8): 481-486
25. Naiki Y, Miyado M, Shindo M, Horikawa R, Hasegawa Y, Katsumata N, Takada S, Akutsu H, Onodera M, Fukami M. Adeno-associated virus-mediated gene therapy for patients' fibroblasts,induced pluripotent stem cells and a mouse model of congenital adrenal hyperplasia. Hum Gene Ther. 2022; 33(15-16): 801-809
26. Shindo M, Miyado K, Kang W, Fukami M, Miyado M. Efficient superovulation and egg collection from mice. Bio Protoc. 2022; 12(11): e4439
27. Higashiyama H, Ohsone Y, Takatani R, Futatani T, Kosaki R, Kagami M. Two infants with mild, atypical clinical features of Kagami-Ogata syndrome caused by epimutation. Eur J Med Genet. 2022; 65(10): 104580
28. Sugisawa C, Taniyama M, Sato T, Takahashi Y, Hasegawa T, Narumi S. Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review. Endocr J. 2022; 69(7): 831-838
29. Nakagawa R, Takasawa K, Gau M, Tsuji-Hosokawa A, Kawaji H, Murakawa Y, Takada S, Mikami M, Narumi S, Fukami M, Sreenivasan R, Maruyama T, Tucker E, Zhao L, Bowles J, Sinclair A, Koopman P, Hayashizaki Y, Morio T, Kashimada K. Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. Hum Mol Genet. 2022; 31(13): 2223-2235
30. Kuriki A, Hosoya S, Ozawa K, Wada S, Kosugi Y, Wada YS, Sekizawa A, Miyazaki O, Kagami M, Sago H. Quantitative assessment of coat-hanger ribs detected on three-dimensional ultrasound for prenatal diagnosis of Kagami-Ogata syndrome. J Obstet Gynaecol Res. 2022; 48(12): 3314-3318
31. Fujii S, Mochizuki K, Usui H, Kitagawa N, Umemoto S, Tanaka M, Tanaka Y, Otani M, Nozawa K, Kurosawa K, Kagami M, Shinkai M. Infantile hepatic hemangioma and hepatic mesenchymal hamartoma in an infant associated with placental mesenchymal dysplasia: a case report. Surg Case Rep. 2022; 8(1): 161
32. Miyagi T, Yamazaki R, Ueda K, Narumi S, Hayamizu Y, Uji-I H, Kuroda M, Kanekura K. The patterning and proportion of charged residues in the arginine-rich mixed-charge domain determine the membrane-less organelle targeted by the protein. Int J Mol Sci. 2022; 23(14): 7658
33. Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Whole-exome analysis of 177 pediatric patients with undiagnosed diseases. Sci Rep. 2022; 12(1): 14589
34. Ota T, Katsumata N, Naiki Y, Horikawa R. Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenital. J Pediatr Endocrinol Metab. 2022; 35(9): 1189-1193
35. Masunaga Y, Nishimura G, Takahashi K, Hishiyama T, Imamura M, Kashimada K, Kadoya M, Wada Y, Okamoto N, Oba D, Ohashi H, Ikeno M, Sakamoto Y, Fukami M, Saitsu H, Ogata T. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG). Sci Rep. 2022; 12(1): 17079
36. Akiba K, Hasegawa Y, Katoh-Fukui Y, Terao M, Takada S, Hasegawa T, Fukami M, Narumi S. POU1F1/Pou1f1 c.143-83A>G variant disrupts the branch site in pre-mRNA and leads dwarfism. Endocrinology. 2022 in press
37. Ariyasu D, Nagamatsu F, Aso K, Akiba K, Hasegawa Y. Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty. Endocr J. 2022 in press
38. Negishi Y, Kurosawa K, Takano K, Matsubara K, Nishiyama T, Saitoh S. A nationwide survey of Schaaf-Yang syndrome in Japan. J Hum Genet. 2022; 67(12): 735-738
39. Urakawa T, Ozawa J, Tanaka M, Narusawa H, Matsuoka K, Fukami M, Nagasaki K, Kagami M. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR. Eur J Med Genet. 2022 in press

受賞

鏡雅代　　　第22回川野賞基礎医学分野

張若谷　　　滋慶教育科学研究所（略称JESC）奨励賞

鳴海覚志　　日本小児科学会 学術研究賞

成澤宏宗　　第25回小児分子内分泌研究会 優秀演題賞

秋葉和壽　　日本人類遺伝学会第67回大会 大会最優秀ポスター賞

受賞

原香織　　　　第43回 日本小児遺伝学会学術集会 大会長賞（信濃国賞）

吉田朋子　　　令和2年度東北大学総長賞

秋葉和壽　　　第54回 日本小児内分泌学会学術集会 若手優秀演題賞

小田野めぐみ　第54回 日本小児内分泌学会学術集会 若手優秀演題賞

鈴木江莉奈　　2021年度RMB優秀論文賞

成澤宏宗　　　第44回 日本小児遺伝学会学術集会 つながる2021合同学学術集会賞

原香織　　　　杉山記念財団 第3回SMF論文表彰制度奨励賞

中尾佳奈子　　第64回 日本甲状腺学会学術集会 第13回コスミック研究創成賞 最優秀

2020

英文論文

1. Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, Maruo Y, Hasegawa Y, Suzumura H, Sato S, Kobayashi Y, Murakami N, Nakabayashi K, Yamazawa K, Fuke T, Narumi S, Oka A, Ogata T, Fukami M, Kagami M. Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. Clin Epigenet. 2020; 12(1): 86
2. Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M. Random X chromosome inactivation in patients with Klinefelter syndrome. Mol Cell Pediatr. 2020; 7(1): 1
3. Kinjo K, Nagasaki K, Muroya K, Suzuki E, Ishiwata K, Nakabayashi K, Hattori A, Nagao K, Nozawa R-S, Obuse C, Miyado K, Ogata T, Fukami M, Miyado M. Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. Sci Rep. 2020; 10(1): 10985
4. Igarashi M, Masunaga Y, Hasegawa Y, Kinjo K, Miyado M, Saitsu H, Kato-Fukui Y, Horikawa R, Okubo Y, Ogata T, Fukami M. Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development. Sci Rep. 2020; 10(1): 17375
5. Suzuki E, Kobori Y, Katsumi M, Ushijima K, Uchiyama T, Okada H, Miyado M, Fukami M. Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y. Reprod Med Biol. 2020; 19(2): 178-181
6. Hara-Isono K, Matsubara K, Mikami M, Arima T, Ogata T, Fukami M, Kagami M. Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years. Clin Epigenet. 2020; 12(1): 111
7. Hara-Isono K, Matsubara K, Fuke T, Yamazawa K, Satou K, Murakami N, Saitoh S, Nakabayashi K, Hata K, Ogata T, Fukami M, Kagami M. Genome‑wide methylation analysis in Silver-Russell syndrome, Temple syndrome, and Prader-Willi syndrome. Clin Epigenetics. 2020; 12(1): 159
8. Akiba K, Narumi S, Nishimura R, Katoh-Fukui Y, Takada S, Hasegawa Y, Fukami M. SOX9 is co-localized with paraspeckle protein NONO in cultured murine sertoli cells and features structural characteristics of intrinsically disordered proteins. Mol Repod Dev. 2020 [Epub ahead of print]
9. Yoshida T, Saito K, Kawamura T, Ishikawa T, Kato T, Matsubara K, Miyasaka N, Miyado M, Fukami M. Circulating steroids and mood disorders in patients with polycystic ovary syndrome. Steroids. 2020; 165: 108748
10. Fukami M, Fujisawa Y, Ono H, Jinno T, Ogata T. Human spermatogenesis tolerates massive size reduction of the pseudoautosomal region. Genome Biol Evol. 2020 [Epub ahead of print]
11. Matsubara K, Yanagida K, Nagai T, Kagami M, Fukami M. De novo small supernumerary marker chromosomes arising from partial trisomy rescue. Front Genet. 2020; 11: 132
12. Ushijima K, Okuno M, Ayabe T, Kikuchi N, Kawamura T, Urakami T, Yokota I, Amemiya S, Uchiyama T, Kikuchi T, Ogata T, Sugihara S, Fukami M, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes. Diabet Med. 2020; 37(12): 2131-2135
13. Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M; Japanese SHOX study group. Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature. J Pediatr Endocrinol Metab. 2020; 33(10): 1335-1339
14. Iwahashi-Odano M, Nagasaki K, Fukami M, Nishioka J, Yatsuga S, Asakura Y, Adachi M, Muroya K, Hasegawa T, Narumi S. Congenital hypothyroidism due to truncating PAX8 mutations: a case series and molecular function studies. J Clin Endocrinol Metab. 2020; 105(11): dgaa584
15. Iwahashi-Odano M, Fujisawa Y, Ogata T, Nakashima S, Muramatsu M, Narumi S. Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia. Clin Pediatr Endocrinol. 2020; 29(4): 173-178
16. Ushijima K, Ogawa Y, Terao M, Asakura Y, Muroya K, Hayashi M, Ishii T, Hasegawa T, Sekido R, Fukami M, Takada S, Narumi S. Identification of the first promoter-specific gain-of-function SOX9 missense variant (p.E50K) in a patient with 46,XX ovotesticular disorder of sex development. Am J Med Genet A. 2020 accepted
17. Akiba K, Ushijima K, Fukami M, Hasegawa Y. A heterozygous protein-truncating RFX6 variant in a family with childhood-onset, pregnancy-associated, and adult-onset diabetes. Diabet Med. 2020; 37(10): 1772-1776
18. Narumi S, Ohnuma T, Takehara K, Morisaki N, Urayama KY, Hattori T. Evaluating the seasonality of growth in infants using a mobile phone application. NPJ Digit Med. 2020; 3: 138
19. Fuke T, Nakamura A, Inoue T, Kawashima S, Hara-Isono K, Matsubara K, Sano S, Yamazawa K, Fukami M, Ogata T, Kagami M. Role of imprinting disorders in short children born SGA and Silver-Russell syndrome spectrum. J Clin Endocrinol Metab. 2020 [Epub ahead of print]
20. Yoshida M, Tanase-Nakao K (co-first author), Shima H, Shirai R, Yoshida K, Osumi T, Deguchi T, Mori M, Arakawa Y, Takagi M, Miyamura T, Sakaguchi K, Toyoda H, Ishida H, Sakata N, Imamura T, Kawahara Y, Morimoto A, Koike T, Yagasaki H, Ito S, Tomizawa D, Kiyokawa N, Narumi S, Kato M. Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7. Br J Haematol. 2020 [Epub ahead of print]
21. Masunaga Y, Inoue T, Yamoto K, Fujisawa Y, Sato Y, Kawashima-Sonoyama Y, Morisada N, Iijima K, Ohata Y, Namba N, Suzumura H, Kuribayashi R, Yamaguchi Y, Yoshihashi H, Fukami M, Saitsu H, Kagami M, Ogata T. IGF2 mutations: report of five cases, review of the literature, and comparison with H19/IGF2:IG-DMR epimutations. J Clin Endocrinol Metab. 2020; 105(1): 116-125
22. Yamazawa K, Inoue T, Sakemi Y, Nakashima T, Yamashita H, Khono K, Fujita H, Enomoto K, Nakabayashi K, Hata K, Nakashima M, Matsunaga T, Nakamura A, Matsubara K, Ogata T, Kagami M. Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome. J Med Genet. 2020 [Epub ahead of print]
23. Yamoto K, Saitsu H, Fujisawa Y, Kato F, Matsubara K, Fukami M, Kagami M, Ogata T. Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing. Clin Case Rep. 2020; 8(6): 1076-1080
24. Masunaga Y, Fujisawa Y, Muramatsu M, Ono H, Inoue T, Fukami M, Kagami M, Saitsu H, Ogata T. Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review. Endocr J. 2020 [Epub ahead of print]
25. Omark J, Masunaga Y, Hannibal M, Shaw B, Fukami M, Kato F, Saitsu H, Kagami M, Ogata T. Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3. J Hum Genet. 2020 [Epub ahead of print]
26. Uchiyama H, Masunaga Y, Ishikawa T, Fukuoka T, Fukami M, Saitsu H, Ogata T. TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts. Eur J Med Genet. 2020; 63(11): 104060
27. Masunaga Y, Mochizuki M, Kadoya M, Wada Y, Okamono N, Fukami M, Saitsu H, Ogata T. Primary ovarian insufficiency in a female with PMM2 mutations for congenital disorder of glycosylation. Endocr J. 2020 [Epub ahead of print]
28. Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, Saitsu H, Ogata T. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. J Hum Genet. 2020; 65(2): 181-186
29. Ishiwa S, Kamei K, Tanase-Nakao K, Shibata S, Matsunami K, Takeuchi I, Sato M, Ishikura K, Narumi S. A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: A case report. BMC Nephrol. 2020; 21(1): 340
30. Nagasaki K, Takase K, Numakura C, Homma K, Hasegawa T, Fukami M. Foetal virilisation caused by overproduction of non-aromatisable 11-oxygenated C19 steroids in maternal adrenal tumour. Hum Reprod. 2020; 35(11): 2609-2612
31. Tatsumi T, Sampei M, Saito K, Honda Y, Okazaki Y, Arata N, Narumi K, Morisaki N, Ishikawa T, Narumi S. Age-dependent and seasonal changes in menstrual cycle length and body temperature based on big data. Obstet Gynecol. 2020; 136(4): 666-674
32. Sugisawa C, Ono M, Kashimada K, Hasegawa T, Narumi S. Inactivation of a frameshift TSH receptor variant Val711Phefs*18 is due to acquisition of a hydrophobic degron. J Clin Endocrinol Metab. 2020 [Epub ahead of print]
33. Sutani A, Shima H, Hijikata A, Hosokawa S, Katoh-Fukui Y, Takasawa K, Suzuki E, Doi S, Shirai T, Morio T, Fukami M, Kashimada K. WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome. Eur J Med Genet. 2020; 63(1): 103626
34. Reyes M, Kagami M, Kawashima S, Pallotta J, Schnabel D, Fukami M, Jüppner H. A novel GNAS duplication associated with loss-of-methylation restricted to exon A/B causes pseudohypoparathyroidism type Ib (PHP1B). J Bone Miner Res. 2020 [Epub ahead of print]
35. Kawabe Y, Yamaguchi M, Miyagaki S, Ota T, Morimoto H, Hattori A, Fukami M, Mori J. 45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: A case report. Clin Pediatr Endocrinol. 2020; 29(4): 189-193
36. Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K, Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism. J Hum Genet. 2020 [Epub ahead of print]
37. Saito-Abe M, Yamamoto-Hanada K, Nakayama SF, Hashimoto Y, Natsume O, Fukami M, Hasegawa T, Ohya Y. Reference values for salivary cortisol in heathy young infants by LC-MS/MS. Pediatr Int. 2020; 62(7): 785-788
38. Uchida N, Ohnishi T, Kojima T, Takahashi T, Makita Y, Fukami M, Shibata H, Hasegawa T, Ishii T. Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report. Clin Pediatr Endocrinol. 2020; 29(4): 179-182
39. Matsumoto R, Suga H, Aoi T, Bando H, Fukuoka H, Iguchi G, Narumi S, Hasegawa T, Muguruma K, Ogawa W, Takahashi Y. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells. J Clin Invest. 2020; 130(2): 641-654
40. Amano N, Kitoh H, Narumi S, Nishimura G, Hasegawa T. A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux. Clin Pediatr Endocrinol. 2020; 29(3): 99-103
41. Yakou F, Suwanai H, Ishikawa T, Itou M, Shikuma J, Miwa T, Sakai H, Kanekura K, Narumi S, Suzuki R, Odawara M. A novel homozygous mutation of thyroid peroxidase gene abolishes a disulfide bond leading to congenital hypothyroidism. Int J Endocrinol. 2020; 2020: 9132372
42. Suda K, Fukuoka H, Iguchi G, Kanie K, Fujita Y, Odake Y, Matsumoto R, Bando H, Ito H, Takahashi M, Chihara K, Nagai H, Narumi S, Hasegawa T, Ogawa W, Takahashi Y. A case of Luscan-Lumish syndrome: possible involvement of enhanced GH signaling. J Clin Endocrinol Metab. 2020 [Epub ahead of print]
43. Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T. Clinical characteristics of 57 patients with lipoid congenital adrenal hyperplasia in Japan: criteria of nonclassic form revisited. J Clin Endocrinol Metab. 2020; 105(11): dgaa557
44. Kang W, Harada Y, Yamatoya K, Kawano N, Kanai S, Miyamoto Y, Nakamura A, Miyado M, Hayashi Y, Kuroki Y, Saito H, Iwao Y, Umezawa A, Miyado K. Extra-mitochondrial citrate synthase initiates calcium oscillation and suppresses age-dependent sperm dysfunction. Lab Invest. 2020; 100(4): 583-595
45. Kamiya J, Kang W, Yoshida K, Takagi R, Kanai S, Hanai M, Nakamura A, Yamada M, Miyamoto Y, Miyado M, Kuroki Y, Hayashi Y, Umezawa A, Kawano N, Miyado K. Suppression of Non-Random Fertilization by MHC Class I Antigens. Int J Mol Sci. 2020; 21(22): E8731
46. Kang W, Yamatoya K, Miyado K, Miyado M, Miyamoto Y. Neuronal expression of Ca2+ oscillation initiator is linked to rapid neonatal growth in mice. MicroPubl Biol. 2020 [Epub ahead of print]

受賞

宮戸真美, 深見真紀, 緒方勤　　第30回 バゾプレシン研究会 研究奨励賞

2019

英文論文

1. Miyado M, Muroya K, Katsumi M, Saito K, Kon M, Fukami M. Somatically acquired idic(Y) and mosaic loss of chromosome Y in a boy with hypospadias. Cytogenet Genome Res. 2018; 154(3): 122-125
2. Ushijima K, Fukami M, Ayabe T, Narumi S, Okuno M, Nakamura A, Takahashi T, Ihara K, Ohkubo K, Tachikawa E, Nakayama S, Arai J, Kikuchi N, Kikuchi T, Kawamura T, Urakami T, Hata K, Nakabayashi K, Matsubara Y, Amemiya S, Ogata T, Yokota I, Sugihara S, The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes. Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes. Pediatr Diabetes. 2018; 19(2): 243-250
3. Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M. STX2 is a causative gene for non-obstructive azoospermia. Hum Mutat. 2018; [in press]
4. Katoh-Fukui Y, Yatsuga S, Shima H, Hattori A, Nakamura A, Okamura K, Yanagi K, Iso M, Kaname T, Matsubara Y, Fukami M. An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome. Hum Genome Var. 2018; 5: 18006
5. Kawasima S, Nakamura A, Inoue T, Matsubara K, Horikawa R, Wakui K, Takano K, Fukushima Y, Tatematsu T, Mizuno S. Tsubaki J, Kure S, Matsubara Y, Ogata T, Fukami M, Kagami M. Maternal uniparental disomy for chromosome 20: physical and endocrinological characteristics of five patient. J Clin Endocrinol Metab. 2018; 103(6): 2083-2088
6. Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S,Fukami M. (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty. Human Genome Variation. 2018; [in press]
7. Ogushi K, Hattori A, Suzuki E, Shima H, Izawa M, Yagasaki H, Horikawa R, Uetake K, Umezawa A, Ishii T, Muroya K, Namba N, Tanaka T, Hirano Y, Yamamoto H, Soneda S, Matsubara K, Kagami M, Miyado M, Fukami M. DNA methylation status of SHOX-flanking CpG islands in healthy individuals and short stature patients with pseudoautosomal copy-number variations. Cytogenet Genome Res. 2018; [Epub ahead of print]
8. Ogata H, Ihara H, Gito M, Sayama M, Murakami N, Ayabe T, Oto Y, Nagai T, Shimoda K. Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults. Res Dev Disabil. 2018; 73: 126-134
9. Yoshida K, Kang W, Nakamura A, Kawano N, Hanai M, Miyado M, Miyamoto Y, Iwai M, Hamatani T, Saito H, Miyado K, Umezawa A. Ubiquitin-activating enzyme E1 inhibitor PYR-41 retards sperm enlargement after fusion to the egg. Reprod Toxicol. 2018; 76: 71-77
10. Yamoto K, Okamoto S, Fujisawa Y, Fukami M, Saitsu H, Ogata T. FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism. Am J Med Genet A. 2018; 176(1): 139-143
11. Sano S, Nakamura A, Matsubara K, Nagasaki K, Fukami M, Kagami M, OgataT. (Epi)genotype-phenotype analysis in 69 Japanese patients with pseudohypoparathyroidism Type I. J Endocr Soc. 2017; 2(1): 9-23
12. Shima H, Koehler K, Nomura Y, Sugimoto K, Satoh A, Ogata T, Fukami M, Jühlen R, Schuelke M, Mohnike K, Huebner A, Narumi S. Two patients with MIRAGE syndrome lacking haematologic features: Role of somatic second-site reversion SAMD9 mutations. J Med Genet. 2018; 55(2): 81-85
13. Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M. A severely short-statured girl with 47,XX,+14/46,XX,upd(14)mat, mosaicism. J Hum Genet. 2018; 63(3): 377-381
14. Yamazaki F, Shima H, Osumi T, Narumi S, Kuroda T, Shimada H. Nodular lymphocyte-predominant hodgkin lymphoma in a 15-year-old boy with Li-Fraumeni syndrome having a germline TP53 D49H mutation. J Pediatr Hematol Oncol. 2018; 40(3): e195-e197
15. Horikawa Y, Enya M, Komagata M, Hashimoto KI, Kagami M, Fukami M, Takeda J. Effectiveness of sodium-glucose cotransporter-2 Inhibitor as an add-on drug to GLP-1 receptor agonists for glycemic control of a patient with Prader-Willi syndrome: a case report. Diabetes Ther. 2018; 9(1): 421-426
16. Ayabe T, Yamamoto-Hanada K, Mezawa H, Konishi M, Ishitsuka K, Saito M, Fukami M, Michikawa T, Yamazaki S, Senju A, Kusuhara K, Kawamoto T, Sanefuji M, Kato K, Oda M, Mitsubuchi H, Katoh T, Monden Y, Nathan Mise, Kayama F, Saito H, Ohya Y. Regional difference of infant 25OHD levels in pilot study of Japan Environment and Children's Study. Pediatr Int. [Epub ahead of print]
17. Wilson DB, Bessler M, Ferkol TW, Shenoy S, Amano N, Ishii T, Shima H, Narumi S. Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer. 2018; 65(1)
18. Haug MG, Brendehaug A, Houge G, Kagami M, Ogata T. Mosaic upd(14)pat in a patient with mild features of Kagami-Ogata syndrome. Clin Case Rep. 2017; 6(1): 91-95
19. Nakamura A, Muroya K, Ogata-Kawata H, Nakabayashi K, Matsubara K, Ogata T, Kurosawa K, Fukami M, Kagami M. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. J Med Genet. 2018; 55(8): 567-570
20. Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. Am J Med Genet A. 2018; 176: 415-420
21. Sarthy J, Zha J, Babushok D, Shenoy A, Fan JM, Wertheim G, Himebauch A, Munchel A, Taraseviciute A, Yang S, Shima H, Narumi S, Meshinchi S, Olson TS. Poor outcome with hematopoietic stem cell transplantation for bone marrow failure and MDS with severe MIRAGE syndrome phenotype. Blood Adv. 2018; 2: 120-125
22. Mora JRH, Tayama C, Sánchez-Delgado M, Monteagudo-Sánchez A, Hata K, Ogata T, Medrano J, Eugenia Poo-Llanill M, Simón C, Moran S, Esteller M, Tenorio J, Lapunzina P, Kagami M, Monk D, Nakabayashi K. Characterization of parent-of-origin methylation using the Illumina Infinium MethylationEPIC array platform. Epigenomics. 2018; 10(7): 941-954
23. Montalbano A, Juergensen L, Fukami M, Thiel CT, Hauer NH, Roeth R, Weiss B, Naiki Y, Ogata T, Hassel D, Rappold GA. Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature. Eur J Hum Genet. 2018; 26(8): 1113-1120
24. Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y. Molecular diagnosis of 34 Japanese families with Leber Congenital Amaurosis using targeted Next-generation sequencing. Sci Rep. 2018; 8(1): 8279
25. Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M. GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly. Asian J Androl. 2018; 20(6): 629-631
26. Tanase-Nakao K, Miyata I, Terauchi A, Saito M, Wada S, Hasegawa T, Narumi S. Fetal goitrous hypothyroidism and polyhydramnios in a patient with compound heterozygous DUOXA2 mutations. Horm Res Paediatr. 2018; 90(2): 132-137
27. Yoshida T, Matsuzaki T, Miyado M, Saito K, Iwasa T, Matsubara Y, Ogata T, Irahara M, Fukami M. 11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome. Endocr J. 2018; 65(10): 979-990
28. Inoue T, Yagasaki H, Nishioka J, Nakamura A, Matsubara K, Narumi S, Nakabayashi K, Yamazawa K, Fuke T, Oka A, Ogata T, Fukami M, Kagami M. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2018; pii: jmedgenet-2018-105463
29. Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet. 2018; 63(12): 1277-1281
30. Sugisawa C, Abe K, Sunaga Y, Taniyama M, Hasegawa T, Narumi S. Identification of compound heterozygous TSHR mutations (R109Q and R450H) in a patient with nonclassic TSH resistance and functional characterization of the mutant receptors. Clin Pediatr Endocrinol. 2018; 27(3): 123-130
31. Tomonaga K, Tahara K, Watanabe T, Ohno M, Ogawa K, Kutsukake M, Fujino A, Hishiki T, Kinjyo K, Horikawa R, Katsumata N, Kanamori Y. A case of congenital autonomous thyroid adenoma with a somatic activating gene mutation in the thyroid-stimulating hormone receptor. J Pediatr Surg Case Rep. 2018; 38: 50-52.
32. Ohsako S, Aiba T, Miyado M, Fukami M, Ogata T, Hayashi Y, Mizuno K, Kojima Y. Expression of xenobiotic biomarkers CYP1 family in preputial tissue of patients with hypospadias and phimosis and its association with DNA methylation level of SRD5A2 minimal promoter. Arch Environ Contam Toxicol. 2018; 74(2): 240-247
33. Abe K, Narumi S, Suwanai AS, Adachi M, Muroya K, Asakura Y, Nagasaki K, Abe T, Hasegawa T. Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach. Eur J Endocrinol. 2018; 178(2): 137-144
34. Iwai M, Hamatani T, Nakamura A, Kawano N, Kanai S, Kang W, Yoshii N, Odawara Y, Yamada M, Miyamoto Y, Saito T, Saito H, Miyado M, Umezawa A, Miyado K, Tanaka M. Membrane protein CD9 is repositioned and released to enhance uterine function. Lab Invest. 2018; [Epub ahead of print]
35. Nakamura A, Kawano N, Motomura K, Kuroda A, Sekiguchi K, Miyado M, Kang W, Miyamoto Y, Hanai M, Iwai M, Yamada M, Hamatani T, Saito T, Saito H, Tanaka M, Umezawa A, Miyado K. Degradation of phosphate polymer polyP enhances lactic fermentation in mice. Genes Cells. 2018; 23(10): 904-914
36. Kang W, Ishida E, Yamatoya K, Nakamura A, Miyado M, Miyamoto Y, Iwai M, Tatsumi K, Saito T, Saito K, Kawano N, Hamatani T, Umezawa A, Miyado K, Saito H. Autophagy-disrupted LC3 abundance leads to death of supporting cells of human oocytes. Biochem Biophys Rep. 2018; 15: 107-114
37. Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G. The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported. Clin Dysmorphol. 2019; 28(1): 26-29
38. Kimura T, Kagami M, Matsubara K, Yatsuga S, Mukasa R, Yatsuga C, Matsumoto T, Koga Y. Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder. Clin Case Rep. 2018; [accepted]
39. Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T. A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination. J Hum Genet. 2018; 63: 1277-1281
40. Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP. Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. Blood. 2018; 132: 2309-2313
41. Narumi S, Matsubara K, Ishii T, Hasegawa T. Methylome analysis of thyroid ectopy shows no disease-specific DNA methylation signature. Clin Pediatr Endocrinol. 2018; 27: 235-238
42. Shima H, Hayashi M, Tachibana T, Oshiro M, Amano N, Ishii T, Haruna H, Igarashi M, Kon M, Fukuzawa R, Tanaka Y, Fukami M, Hasegawa T, Narumi S. MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency. PLoS ONE. 2018; 13: e0206184
43. Katoh-Fukui Y, Baba T, Sato T, Otake H, Nagakui-Noguchi Y, Shindo M, Suyama M, Ohkawa Y, Tsumura H, Morohashi KI, Fukami M. Mouse polycomb group gene Cbx2 promotes osteoblastic but suppresses adipogenic differentiation in postnatal long bones. Bone. 2018; 120: 219-231
44. Shimizu D, Iwashima S, Sato K, Hayano S, Fukami M, Saitsu H, Ogata T. GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development. Clin Case Rep. 2018; 6(11): 2229-2233
45. Naiki Y, Fukami M. Letters to the Editor: "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". J. Clin Endocrinol Metab. 2018 [Epub ahead of print]
46. Iwai M, Harada Y, Miyabayashi R, Kang W, Nakamura A, Kawano N, Miyamoto Y, Yamada M, Hamatani T, Miyado M, Yoshida K, Saito H, Tanaka M, Umezawa A, Miyado K. Chemotactic behavior of egg mitochondria in response to sperm fusion in mice. Heliyon. 2018; 4(11): e00944

2016

英文論文

1. Kon M, Saito K, Mitsui T, Miyado M, Igarashi M, Moriya K, Nonomura K, Shinohara N, Ogata T, *Fukami M. Copy-number variations of the azoospermia factor region or SRY are not associated with the risk of hypospadias. Sexual Development. 2016; 10(1): 12-15
2. Okuno M、Yorifuji T, Kagami M, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Suzuki J, Ogata T, Sugihara S, *Fukami M . Chromosome 6q24 methylation defects are uncommon in childhood-onset non-autoimmune diabetes mellitus patients born appropriate- or large-for-gestational age. Clinical Pediatric Endocrinology. 2016; 25(3): 99-102
3. Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Hasegawa T, Homma K, Inoue E, Miyashiro Y, Kubota T, Irahara M, Ogata T, *Fukami M. Steroidogenic pathways involved in androgen biosynthesis in eumenorrheic women and patients with polycystic ovary syndrome. Journal of Steroid Biochemistry and Molecular Biology. 2016; 158: 31-37
4. Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, *Fukami M. Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis. Journal of Human Genetics. 2016; 61(7): 585-591
5. Saito K, Matsuzaki T, Iwasa T, Miyado M, Saito H, Kubota T, Irahara M, Ogata T, *Fukami M. Blood allopregnanolone levels in women with polycystic ovary syndrome. Clinical Endocrinology. 2016; 85(1): 151-152
6. Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, *Fukami M. Complex genomic rearrangement within the GNAS region associated with familial pseudohypoparathyroidism type 1b. The Journal of Clinical Endocrinology and Metabolism. 2016; 101(7): 2623-2627
7. Ayabe T, *Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Ihara K, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S. Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age-specific effects of cis-regulatory haplotypes at 17q12-q21. Diabetic Medicine. 2016; 33(12): 1717-1722
8. *Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, *Ogata T. Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome. Genetics in Medicine. 2016; [Epub ahead of print]
9. Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, *Fukami M. NR0B1 frameshift mutation in a boy clinically diagnosed with idiopathic central precocious puberty. Sexual Development. 2016; 10(4): 205-209
10. Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, *Fukami M. Complex X-chromosomal rearrangements in two women with ovarian dysfunction: Implications for chromothripsis/chromoanasynthesis-dependent and -independent origins of complex genomic alterations. Cytogenetic and Genome Research. 2016; [Epub ahead of print]
11. Igarashi M, Takasawa K, Hakoda A, Kanno J, Takada S, Miyado M, Baba T, Morohashi KI, Tajima T, Hata K, Nakabayashi K, Matsubara Y, Sekido R, Ogata T, Kashimada K, *Fukami M. Identical NR5A1 missense mutations in two unrelated 46,XX individuals with testicular tissues. Human Mutation. 2016; [Epub ahead of print]
12. Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, *Fukami M. The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice. Biology of Sex Differences. 2016; 7: 56
13. Nagai K, Shima H, Kamimura M, Kanno J, Suzuki E, Ishiguro A, Narumi S, Kure S, Fujiwara I, *Fukami M. Xp22.31 microdeletion due to microhomology-mediated break-induced replication in a boy with contiguous gene deletion syndrome. Cytogenetic and Genome Research. 2016; [accepted]
14. *Miyado M, Miyado K, Nakamura A, Fukami M, Yamada G, Oda SI. Expression patterns of Fgf8 and Shh in the developing external genitalia of Suncus murinus. Reproduction. 2016; 153(2): 187-195
15. Okuno M, Kasahara Y, Onodera M, Takubo N, Okajima M, Suga S, Watanabe N, Suzuki J, Ayabe T, Urakami T, Kawamura T, Kikuchi N, Yokota I, Kikuchi T, Amemiya S, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Ogata T, *Fukami M, Sugihara S. Mutations in CD101, the human homolog of diabetes susceptibility gene in nonobese diabetic mouse, in patients with type 1 diabetes. Journal of Diabetes Investigation. 2016; [Epub ahead of print]
16. *Naiki Y, Miyado M, Horikawa R, Katsumata N, Onodera M, Pang S, Ogata T, Fukami M. Extra-adrenal induction of Cyp21a1 ameliorates systemic steroid metabolism in a mouse model of congenital adrenal hyperplasia. Endocrine Journal. 2016; 63(10): 897-904
17. *Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O'Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton, Krystyna H. Chrzanowska11, Justin H. Davies, Renuka P. Dias, Béatrice Dubern, Miriam Elbracht, Eloise Giabicani, Adda Grimberg, Karen Grønskov, Anita C. S. Hokken-Koelega, Alexander A. Jorge, Kagami M, Agnes Linglart, Mohamad Maghnie, Klaus Mohnike, David Monk, Gudrun E. Moore, Philip G. Murray, Ogata T, Isabelle Oliver Petit, Silvia Russo, Edith Said, Meropi Toumba, Zeynep Tümer, Gerhard Binder, Thomas Eggermann, Madeleine D. Harbison, I. Karen Temple, Deborah J. G. Mackay, Irène Netchine. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nature Reviews Endocrinology. 2016; 13(2): 105-124
18. Takagi M, Shinohara H, Nagashima Y, Hasegawa Y, Narumi S, *Hasegawa T. A novel dominant negative mutation in the intracellular domain of GHR is associated with growth hormone insensitivity. Clinical Endocrinology (Oxf). 2016; 85(4): 669-671
19. Fujisawa Y, Fukami M, Hasegawa T, Uematsu A, Muroya K, *Ogata T. Long-term clinical course in three patients with MAMLD1 mutations. Endocrine Journal. 2016; 63(9): 835-839
20. Montalbano A, Juergensen L, Roeth R, Weiss B, Fukami M, Fricke-Otto S, Binder G, Ogata T, Decker E, Nuernberg G, Hassel D, *Rappold GA. Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency. EMBO Molecular Medicine. 2016; 8(12): 1455-1469
21. Goto M, *Yamamoto Y, Ishii M, Nakamura A, Sano S, Kagami M, Fukami M, Saito R, Araki S, Kubo K, Kawagoe R, Kawada Y, Kusuhara K. Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia. Pediatrics International. 2016; 58(11): 1229-1231
22. Mitani M, Furuichi M, Narumi S, Hasegawa T, Chiga M, Uchida S, *Sato S. A patient with pseudohypoaldosteronism type II complicated by congenital hypopituitarism carrying a KLHL3 mutation. Clin Pediatr Endocrinol. 2016; 25: 127-134
23. Ohishi A, Nishimura G, Kato F, Ono H, Maruwaka K, Ago M, Suzumura H, Hirose E, Uchida Y, Fukami M, *Ogata T. Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses. American Journal of Medical Genetics A. 2017; 173(1): 157-162
24. *Ihara K, Fukano C, Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood Adolescent Diabetes (JSGIT). FUT2 nonsecretor status links Type 1 diabetes susceptibility in Japanese children. Diabetic Medicine. 2016; [Epub ahead of print]
25. Matsubara K, Murakami N, Fukami M, Kagami M, Nagai T, *Ogata T. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat. Clinical Genetics. 2016; 89(5): 614-619
26. Fujisawa Y, Sakaguchi K, Ono H, Yamaguchi R, Kato F, Kagami M, Fukami M, *Ogata T. Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma. Journal of Steroid Biochemistry and Molecular Biology. 2016; 159: 86-93
27. *Omokawa M, Ayabe T, Nagai T, Imanishi A, Omokawa A, Nishino S, Sagawa Y, Shimizu T, Takashi Kanbayashi T. Decline of CSF Orexin (Hypocretin) levels in Prader-Willi Syndrome. American Journal of Medical Genetics A. 2016; 170A(5): 1181-1186
28. *Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto Y, Koga Y, Sakuta R. Pyruvate improved the insulin secretion status in a mitochondrial diabetes mellitus patient. The Journal of Clinical Endocrinology and Metabolism. 2016; 101(5): 1924-1926
29. *Maruo Y, Nagasaki K, Matsui K, Mimura Y, Mori A, Fukami M, Takeuchi Y. Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. European Journal of Endocrinology. 2016; 174(4): 453-463
30. Sano S, Matsubara K, Nagasaki K, Kikuchi T, Nakabayashi K, Hata K, Fukami M, Kagami M, *Ogata T. Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects. Journal of Human Genetics. 2016; 61(8): 765-769
31. Ho-Ming Luk, Fai-Man Ivan Lo, Sano S, Matsubara K, Nakamura A, *Ogata T, *Kagami M. Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis. American Journal of Medical Genetics A. 2016; 170(7): 1938-1941
32. *Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, *Hasegawa T. SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7. Nature Genetics. 2016; 48(7): 792-797
33. Yokoi T, Nishina S, Fukami M, Ogata T, Hosono K, Hotta Y, *Azuma N. Genotype-phenotype correlation of PAX6 gene mutations in aniridia. Human Genome Variation. 2016; 3: 15052
34. Koyama Y, Homma K, Fukami M, Miwa M, Ikeda K, Ogata T, Murata M, *Hasegawa T. Classic and non-classic 21-hydroxylase deficiency can be discriminated from P450 oxidoreductase deficiency in Japanese infants by urinary steroid metabolites. Clinical Pediatric Endocrinology. 2016; 25(2): 37-44
35. Goto M, *Kagami M, Nishimura G, Yamagata T. A patient with Temple Syndrome satisfying the clinical diagnostic criteria of Silver-Russell syndrome. American Journal of Medical Genetics A. 2016; 170(9): 2483-2485

受賞

鈴木江莉奈　　　第50回日本小児内分泌学会学術集会 最高得点抄録演題賞受賞

五十嵐麻希　　　第39回日本小児遺伝学会学術集会 優秀演題賞受賞

島彦仁　　　　　第39回日本小児遺伝学会学術集会 優秀演題賞受賞