نتایج جستجو برای: nr5a1

تعداد نتایج: 360  

Journal: :Journal of genetic medicine 2022

Other SectionsAbstractIntroductionCase DiscussionConflict of interestAuthors’ ContributionsFigureTableReference

Journal: :American journal of human genetics 2010
Alexander Pearlman Johnny Loke Cedric Le Caignec Stefan White Lisa Chin Andrew Friedman Nicholas Warr John Willan David Brauer Charles Farmer Eric Brooks Carole Oddoux Bridget Riley Shahin Shajahan Giovanna Camerino Tessa Homfray Andrew H Crosby Jenny Couper Albert David Andy Greenfield Andrew Sinclair Harry Ostrer

Investigations of humans with disorders of sex development (DSDs) resulted in the discovery of many of the now-known mammalian sex-determining genes, including SRY, RSPO1, SOX9, NR5A1, WT1, NR0B1, and WNT4. Here, the locus for an autosomal sex-determining gene was mapped via linkage analysis in two families with 46,XY DSD to the long arm of chromosome 5 with a combined, multipoint parametric LO...

Journal: :European journal of endocrinology 2016
Tomohiro Ishii Ryuji Fukuzawa Takeshi Sato Koji Muroya Masanori Adachi Kenji Ihara Junko Igaki Yukihiro Hasegawa Seiji Sato Toshikatsu Mitsui Tomonobu Hasegawa

OBJECTIVE Congenital lipoid adrenal hyperplasia (lipoid CAH) results in impairment of adrenal and gonadal steroidogenesis caused by STAR mutations. Our previous study revealed upregulation of genes associated with inflammatory or immune response and macrophage infiltration in the adrenal cortex of Star-knockout mice. This study aimed at investigating macrophage infiltration in the gonads from h...

Journal: :Blood 2005
Yuko Katoh-Fukui Akiko Owaki Yoshiro Toyama Masatomo Kusaka Yuko Shinohara Mamiko Maekawa Kiyotaka Toshimori Ken-Ichirou Morohashi

Mice with disrupted mammalian PcG (Polycomb group) genes commonly show skeletal transformation of anterior-posterior identities. Disruption of the murine M33 gene, a PcG member, displayed posterior transformation of the vertebral columns and sternal ribs. In addition, failure of T-cell expansion and hypoplasia and sex-reversal of the gonads, have been observed. In the present study, we identifi...

2017
Masashi DEMURA Fen WANG Takashi YONEDA Shigehiro KARASHIMA Shunsuke MORI Masashi OE Mitsuhiro KOMETANI Toshitaka SAWAMURA Yuan CHENG Yuji MAEDA Mikio NAMIKI Hidekazu INO Noboru FUJINO Katsuharu UCHIYAMA Toshinari TSUBOKAWA Masakazu YAMAGISHI Yasuhiro NAKAMURA Katsuhiko ONO Hironobu SASANO Yoshiki DEMURA Masashi Demura

*KURAに登録されているコンテンツの利用については,著作権法に規定されている私的使用や引用などの範囲内で行ってください。 *著作権法に規定されている私的使用や引用などの範囲を超える利用を行う場合には,著作権者の許諾を得てください。ただし,著作権者 から著作権等管理事業者(学術著作権協会,日本著作出版権管理システムなど)に権利委託されているコンテンツの利用手続については ,各著作権等管理事業者に確認してください。 Title Multiple noncoding exons 1 of nuclear receptors NR4A family (nerve growth factor-induced clone B, Nur-related factor 1 and neuron-derived orphan receptor 1) and NR5A1 (steroidogenic ...

Journal: :Development 2012
F William Buaas Jennifer R Gardiner Sally Clayton Pierre Val Amanda Swain

Adrenal and gonadal steroids are essential for life and reproduction. The orphan nuclear receptor SF1 (NR5A1) has been shown to regulate the expression of enzymes involved in steroid production in vitro. However, the in vivo role of this transcription factor in steroidogenesis has not been elucidated. In this study, we have generated steroidogenic-specific Cre-expressing mice to lineage mark an...

Journal: :Molecular genetics and metabolism 2004
Anita K Iyer Edward R B McCabe

DAX1 (dosage sensitive sex reversal (DSS), adrenal hypoplasia congenita (AHC) critical region on the X chromosome, gene 1) encoded by the gene NR0B1, is an unusual orphan nuclear receptor that when mutated causes AHC with associated hypogonadotropic hypogonadism (HH), and when duplicated causes DSS. DAX1 expression has been shown in all regions of the hypothalamic-pituitary-adrenal-gonadal (HPA...

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