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Literature citations Results

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.

Burwinkel B., Amat L., Gray R.G., Matsuo N., Muroya K., Narisawa K., Sokol R.J., Vilaseca M.A., Kilimann M.W.

Hum. Genet. 102:423-429(1998) · UniProtKB (2)

TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.

Narumi S., Muroya K., Abe Y., Yasui M., Asakura Y., Adachi M., Hasegawa T.

J. Clin. Endocrinol. Metab. 94:1317-1323(2009) · Mapped (10)

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

Narumi S., Muroya K., Asakura Y., Adachi M., Hasegawa T.

J. Clin. Endocrinol. Metab. 95:1981-1985(2010) · Mapped (22)

The adenomatous polyposis coli-associated exchange factors Asef and Asef2 are required for adenoma formation in Apc(Min/+)mice.

Kawasaki Y., Tsuji S., Muroya K., Furukawa S., Shibata Y., Okuno M., Ohwada S., Akiyama T.

EMBO Rep. 10:1355-1362(2009) · UniProtKB (8) · Mapped (37)

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

Shima H., Tanaka T., Kamimaki T., Dateki S., Muroya K., Horikawa R., Kanno J., Adachi M., Naiki Y., Tanaka H. et al.

J. Hum. Genet. 61:585-591(2016) · Mapped (3)

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.

Ogata T., Muroya K., Sasaki G., Nishimura G., Kitoh H., Hattori T.

J. Clin. Endocrinol. Metab. 87:1390-1394(2002) · UniProtKB (1) · Mapped (2)

Screening for mutations of the androgen receptor gene in patients with isolated cryptorchidism.

Suzuki Y., Sasagawa I., Ashida J., Nakada T., Muroya K., Ogata T.

Fertil. Steril. 76:834-836(2001) · Mapped (19)

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S., Amano N., Ishii T., Katsumata N., Muroya K., Adachi M., Toyoshima K., Tanaka Y., Fukuzawa R., Miyako K. et al.

Nat. Genet. 48:792-797(2016) · UniProtKB (1) · Mapped (2)

Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Fukami M., Naiki Y., Muroya K., Hamajima T., Soneda S., Horikawa R., Jinno T., Katsumi M., Nakamura A., Asakura Y. et al.

J. Hum. Genet. 60:553-556(2015) · Mapped (3)

PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

Kosaki K., Suzuki T., Muroya K., Hasegawa T., Sato S., Matsuo N., Kosaki R., Nagai T., Hasegawa Y., Ogata T.

J. Clin. Endocrinol. Metab. 87:3529-3533(2002) · UniProtKB (1) · Mapped (5)

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)

Prognostic significance of BMP and activin membrane-bound inhibitor in colorectal cancer.

Togo N., Ohwada S., Sakurai S., Toya H., Sakamoto I., Yamada T., Nakano T., Muroya K., Takeyoshi I., Nakajima T. et al.

World J. Gastroenterol. 14:4880-4888(2008) · Mapped (4)

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias.

Igarashi M., Wada Y., Kojima Y., Miyado M., Nakamura M., Muroya K., Mizuno K., Hayashi Y., Nonomura K., Kohri K. et al.

Sex Dev 9:130-135(2015) · Mapped (4)

Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

Narumi S., Nagasaki K., Ishii T., Muroya K., Asakura Y., Adachi M., Hasegawa T.

J. Clin. Endocrinol. Metab. 96:E1340-5(2011) · Mapped (10)

Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.

Hattori A., Katoh-Fukui Y., Nakamura A., Matsubara K., Kamimaki T., Tanaka H., Dateki S., Adachi M., Muroya K., Yoshida S. et al.

Endocr. J. 64:947-954(2017) · Mapped (19)

Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.

Suzuki J., Azuma N., Dateki S., Soneda S., Muroya K., Yamamoto Y., Saito R., Sano S., Nagai T., Wada H. et al.

J. Hum. Genet. 59:353-356(2014) · Mapped (8)

Micropenis and the AR Gene: mutation and CAG repeat-length analysis.

Ishii T., Sato S., Kosaki K., Sasaki G., Muroya K., Ogata T., Matsuo N.

J. Clin. Endocrinol. Metab. 86:5372-5378(2001) · Mapped (19)

Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.

Yamada S., Tomura H., Nishigori H., Sho K., Mabe H., Iwatani N., Takumi T., Kito Y., Moriya N., Muroya K. et al.

Diabetes 48:645-648(1999) · UniProtKB (1)

Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype.

Dateki S., Kosaka K., Hasegawa K., Tanaka H., Azuma N., Yokoya S., Muroya K., Adachi M., Tajima T., Motomura K. et al.

J. Clin. Endocrinol. Metab. 95:756-764(2010) · Mapped (10)

Heterozygous defects in PAX6 gene and congenital hypopituitarism.

Takagi M., Nagasaki K., Fujiwara I., Ishii T., Amano N., Asakura Y., Muroya K., Hasegawa Y., Adachi M., Hasegawa T.

Eur. J. Endocrinol. 172:37-45(2015) · Mapped (18)

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.

Takagi M., Ishii T., Inokuchi M., Amano N., Narumi S., Asakura Y., Muroya K., Hasegawa Y., Adachi M., Hasegawa T.

PLoS ONE 7:e46008-e46008(2012) · Mapped (7)

GATA3 abnormalities in six patients with HDR syndrome.

Fukami M., Muroya K., Miyake T., Iso M., Kato F., Yokoi H., Suzuki Y., Tsubouchi K., Nakagomi Y., Kikuchi N. et al.

Endocr. J. 58:117-121(2011) · Mapped (2)

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

Muroya K., Hasegawa T., Ito Y., Nagai T., Isotani H., Iwata Y., Yamamoto K., Fujimoto S., Seishu S., Fukushima Y. et al.

J. Med. Genet. 38:374-380(2001) · UniProtKB (1)

Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia.

Suzuki Y., Sasagawa I., Itoh K., Ashida J., Muroya K., Ogata T.

Fertil. Steril. 78:1341-1343(2002) · Mapped (82)

Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature.

Adachi M., Muroya K., Asakura Y., Sugiyama K., Homma K., Hasegawa T.

Horm Res Paediatr 82:138-142(2014) · Mapped (6)

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