| MAMLD1 (CXorf6): a new gene involved in hypospadias. Ogata T., Laporte J., Fukami M.
Horm. Res. 71:245-252(2009) · Mapped (5) |
| Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. Fukami M., Nishimura G., Homma K., Nagai T., Hanaki K., Uematsu A., Ishii T., Numakura C., Sawada H., Nakacho M. et al.
J. Clin. Endocrinol. Metab. 94:1723-1731(2009) · Mapped (10) |
| SOX10 mutation in Waardenburg syndrome type II. Iso M., Fukami M., Horikawa R., Azuma N., Kawashiro N., Ogata T.
Am. J. Med. Genet. A 146A:2162-2163(2008) · Mapped (4) |
| Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Leri-Weill dyschondrosteosis. Fukami M., Dateki S., Kato F., Hasegawa Y., Mochizuki H., Horikawa R., Ogata T.
J. Hum. Genet. 53:454-459(2008) · Mapped (2) |
| Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence. Fukami M., Wada Y., Okada M., Kato F., Katsumata N., Baba T., Morohashi K., Laporte J., Kitagawa M., Ogata T.
J. Biol. Chem. 283:5525-5532(2008) · UniProtKB (2) · Mapped (4) |
| Silver-Russell syndrome in a girl born after in vitro fertilization: partial hypermethylation at the differentially methylated region of PEG1/MEST. Kagami M., Nagai T., Fukami M., Yamazawa K., Ogata T.
J. Assist. Reprod. Genet. 24:131-136(2007) · Mapped (3) |
| CXorf6 is a causative gene for hypospadias. Fukami M., Wada Y., Miyabayashi K., Nishino I., Hasegawa T., Camerino G., Kretz C., Buj-Bello A., Laporte J., Yamada G. et al.
Nat. Genet. 38:1369-1371(2006) · UniProtKB (1) · Mapped (7) |
| Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1. Wada Y., Okada M., Fukami M., Sasagawa I., Ogata T.
Fertil. Steril. 85:787-790(2006) · Mapped (7) |
| Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. Yoshida R., Fukami M., Sasagawa I., Hasegawa T., Kamatani N., Ogata T.
J. Clin. Endocrinol. Metab. 90:4716-4721(2005) · Mapped (53) |
| Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report. Sato N., Hasegawa T., Hori N., Fukami M., Yoshimura Y., Ogata T.
Hum. Reprod. 20:2173-2178(2005) · UniProtKB (1) |
| Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling. Soneda S., Fukami M., Fujimoto M., Hasegawa T., Koitabashi Y., Ogata T.
Endocr. J. 52:83-88(2005) · Mapped (4) |
| Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. Fukami M., Horikawa R., Nagai T., Tanaka T., Naiki Y., Sato N., Okuyama T., Nakai H., Soneda S., Tachibana K. et al.
J. Clin. Endocrinol. Metab. 90:414-426(2005) · UniProtKB (1) |
| Brassinosteroid deficiency due to truncated steroid 5alpha-reductase causes dwarfism in the lk mutant of pea. Nomura T., Jager C.E., Kitasaka Y., Takeuchi K., Fukami M., Yoneyama K., Matsushita Y., Nyunoya H., Takatsuto S., Fujioka S. et al.
Plant Physiol. 135:2220-2229(2004) · UniProtKB (1) |
| Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens. Fukami M., Nishi Y., Hasegawa Y., Miyoshi Y., Okabe T., Haga N., Nagai T., Tanaka T., Ogata T.
Endocr. J. 51:197-200(2004) · Mapped (2) |
| Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. Rappold G.A., Fukami M., Niesler B., Schiller S., Zumkeller W., Bettendorf M., Heinrich U., Vlachopapadoupoulou E., Reinehr T., Onigata K. et al.
J. Clin. Endocrinol. Metab. 87:1402-1406(2002) · Mapped (2) |
| A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Fukami M., Kirsch S., Schiller S., Richter A., Benes V., Franco B., Muroya K., Rao E., Merker S., Niesler B. et al.
Am. J. Hum. Genet. 67:563-573(2000) · UniProtKB (4) |
| Structural analysis of Arabidopsis thaliana chromosome 5. I. Sequence features of the 1.6 Mb regions covered by twenty physically assigned P1 clones. Sato S., Kotani H., Nakamura Y., Kaneko T., Asamizu E., Fukami M., Miyajima N., Tabata S.
DNA Res. 4:215-230(1997) · UniProtKB (249) |
| Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Rao E., Weiss B., Fukami M., Rump A., Niesler B., Mertz A., Muroya K., Binder G., Kirsch S., Winkelmann M. et al.
Nat. Genet. 16:54-63(1997) · UniProtKB (1) |
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