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Other transcription factors and hypopituitarism.

作者信息

Cohen Laurie E, Radovick Sally

机构信息

Division of Endocrinology, Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

出版信息

Rev Endocr Metab Disord. 2002 Dec;3(4):301-11. doi: 10.1023/a:1020997423195.

DOI:10.1023/a:1020997423195
PMID:12424432
Abstract
摘要

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Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.LIM 同源盒基因 LHX4 种系突变患者的综合征性身材矮小
Am J Hum Genet. 2001 Nov;69(5):961-8. doi: 10.1086/323764. Epub 2001 Sep 20.
2
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.纵向成像显示，两名因PROP1突变导致联合垂体激素缺乏的兄弟，垂体发育不全之前垂体增大。
J Clin Endocrinol Metab. 2001 Sep;86(9):4353-7. doi: 10.1210/jcem.86.9.7828.
3
Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome.
对两个新鉴定出的PITX2突变体的功能分析揭示了Axenfeld-Rieger综合征的一种新分子机制。
Hum Mol Genet. 2001 Aug 1;10(16):1631-8. doi: 10.1093/hmg/10.16.1631.
4
Identification of a dominant negative homeodomain mutation in Rieger syndrome.里格尔综合征中显性负性同源结构域突变的鉴定。
J Biol Chem. 2001 Jun 22;276(25):23034-41. doi: 10.1074/jbc.M008592200. Epub 2001 Apr 11.
5
Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.由于Pit1/POU1F1基因POU结构域中的两个新突变的复合杂合性导致的联合垂体激素缺乏症。
J Clin Endocrinol Metab. 2001 Apr;86(4):1545-50. doi: 10.1210/jcem.86.4.7371.
6
A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.一种垂体细胞特异性T盒因子Tpit，与Pitx同源蛋白协同激活阿黑皮素原（POMC）转录。
Cell. 2001 Mar 23;104(6):849-59. doi: 10.1016/s0092-8674(01)00282-3.
7
LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes.与联合垂体激素缺乏相关的LHX3转录因子突变会损害垂体靶基因的激活。
Gene. 2001 Mar 7;265(1-2):61-9. doi: 10.1016/s0378-1119(01)00369-9.
8
Combined pituitary hormone deficiency due to the F135C human Pit-1 (pituitary-specific factor 1) gene mutation: functional and structural correlates.因F135C人类Pit-1（垂体特异性因子1）基因突变导致的联合垂体激素缺乏症：功能与结构的相关性
Mol Endocrinol. 2001 Mar;15(3):411-20. doi: 10.1210/mend.15.3.0601.
9
Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.一种新型PROP1缺失纯合子的联合垂体激素缺乏患者中的促肾上腺皮质激素缺乏
J Clin Endocrinol Metab. 2000 Dec;85(12):4556-61. doi: 10.1210/jcem.85.12.7013.
10
A mutational hot spot in the Prop-1 gene in Russian children with combined pituitary hormone deficiency.俄罗斯合并垂体激素缺乏症儿童中Prop-1基因的一个突变热点。
Pituitary. 1998 Apr;1(1):45-9. doi: 10.1023/a:1009918924945.