FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Kouji Okuhara

Research Profile

Physiology

Geographic Areas

Japan

Chemicals & Drugs

Disorders

Procedures

Living Beings

Concepts & Ideas

Pedigree

Co-author Network

Publications

TOP 3
Kouji Okuhara; Shuji Abe; Takuma Kondo; Keinosuke Fujita; Noya Koda; Hiroshi Mochizuki; Kenji Fujieda; Toshihiro Tajima
Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
Toshihiro Tajima; Tsukasa Hattori; Takeo Nakajima; Kouji Okuhara; Junko Tsubaki; Kenji Fujieda
A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.
Toshihiro Tajima; Kouhei Satoh; Kouji Okuhara; Junko Tsubaki; Kenji Fujieda
Hypomagnesemia in a patient with Barth syndrome.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Kouji Okuhara (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2008: Kouji Okuhara; Shuji Abe; Takuma Kondo; Keinosuke Fujita; Noya Koda; Hiroshi Mochizuki; Kenji Fujieda; Toshihiro Tajima
Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity.
Endocrine journal 2008;55(1):97-103.
2007: Toshihiro Tajima; Tsukasa Hattori; Takeo Nakajima; Kouji Okuhara; Junko Tsubaki; Kenji Fujieda
A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.
Endocrine journal 2007;54(4):637-41.
2005: Toshihiro Tajima; Kouhei Satoh; Kouji Okuhara; Junko Tsubaki; Kenji Fujieda
Hypomagnesemia in a patient with Barth syndrome.
Journal of pediatric endocrinology & metabolism : JPEM 2005;18(5):523.
2004: Christa E Flück; Toshihro Tajima; Amit V Pandey; Wiebke Arlt; Kouji Okuhara; Charles F Verge; Ethylin Jabs; Berenice B Mendonça; Kenji Fujieda; Walter L Miller
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Nature genetics 2004;36(3):228-30.
2003: Toshihiro Tajima; Kouji Okuhara; Kouhei Satoh; Jun Nakae; Kenji Fujieda
Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus.
Endocrine journal 2003;50(4):473-6.
2003: Kenji Fujieda; Kouji Okuhara; Shuji Abe; Toshihiro Tajima; Tokuo Mukai; Jun Nakae
Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita.
The Journal of steroid biochemistry and molecular biology 2003;85(2-5):483-9.
2003: Toshihiro Tajima; Tsukasa Hattorri; Takeo Nakajima; Kouji Okuhara; Kohei Sato; Shuji Abe; Jun Nakae; Kenji Fujieda
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
The Journal of clinical endocrinology and metabolism 2003;88(1):45-50.
2002: Toshihiro Tajima; Yuichi Kobayashi; Shuji Abe; Michiko Takahashi; Mutsuko Konno; Jun Nakae; Kouji Okuhara; Kouhei Satoh; Takeshi Ishikawa; Toshio Imai; Kenji Fujieda
Two novel mutations of thiazide-sensitive Na-Cl cotrans porter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome.
Endocrine journal 2002;49(1):91-6.
2001: Y Ishikawa; Toshihiro Tajima; Jun Nakae; T Nagashima; Kouhei Satoh; Kouji Okuhara; Kenji Fujieda
Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.
Journal of human genetics 2001;46(7):426-30.
2000: Kohei Sato; Toshihiro Tajima; Jun Nakae; M Adachi; Y Asakura; Katsuhiko Tachibana; S Suwa; N Katsumata; T Tanaka; Y Hayashi; Shuji Abe; Mari Murashita; Kouji Okuhara; Nozomi Shinohara; Kenji Fujieda
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
Pediatric research 2000;48(4):536-40.
2000: Kouji Okuhara; Toshihiro Tajima; Shuji Abe; Kouhei Satoh; Jun Nakae; Nozomi Shinohara; Kenji Fujieda
Gonadotropin-releasing hormone analog therapy failed to improve predicted final height in two children with central precocious puberty and microcephalus.
Endocrine journal 2000;47 Suppl():S129-32.
2000: Kouji Okuhara; Toshihiro Tajima; Jun Nakae; Kenji Fujieda
A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
Journal of human genetics 2000;45(2):112-4.
1999: Kouji Okuhara; S Tajima; Jun Nakae; Satoshi Sasaki; H Tochimaru; Shuji Abe; Kenji Fujieda
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.
Endocrine journal 1999;46(5):639-42.