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From panhypopituitarism to combined pituitary deficiencies: do we need the anterior pituitary?

作者信息

Carrière Catherine, Gleiberman Anatoli, Lin Chijen R, Rosenfeld Michael G

机构信息

Howard Hughes Medical Institute, University of California, San Diego, 9500 Gilman Drive, LaJolla, CA, USA.

出版信息

Rev Endocr Metab Disord. 2004 Mar;5(1):5-13. doi: 10.1023/B:REMD.0000016120.84792.54.

DOI:10.1023/B:REMD.0000016120.84792.54
PMID:14966385
Abstract
摘要

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Evolutionary medicine: from dwarf model systems to healthy centenarians?进化医学：从侏儒模型系统到健康的百岁老人？
Science. 2003 Feb 28;299(5611):1342-6. doi: 10.1126/science.1077991.
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Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.一名日本患者中，HESX1基因的散发性杂合移码突变导致垂体和视神经发育不全及联合垂体激素缺乏。
J Clin Endocrinol Metab. 2003 Jan;88(1):45-50. doi: 10.1210/jc.2002-020818.
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Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during development.
鉴定一条在发育过程中介导细胞类型特异性增殖的Wnt/Dvl/β-连环蛋白→Pitx2信号通路。
Cell. 2002 Nov 27;111(5):673-85. doi: 10.1016/s0092-8674(02)01084-x.
4
Molecular basis of combined pituitary hormone deficiencies.联合垂体激素缺乏症的分子基础
Endocr Rev. 2002 Aug;23(4):431-42. doi: 10.1210/er.2001-0030.
5
A familial syndrome of isolated "aplasia" of the anterior pituitary. Diagnostic studies and treatment in the neonatal period.
J Pediatr. 1974 Jan;84(1):79-84. doi: 10.1016/s0022-3476(74)80557-3.
6
The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
Mol Genet Metab. 2002 Jun;76(2):85-91. doi: 10.1016/s1096-7192(02)00032-x.
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Molecular genetics of Axenfeld-Rieger malformations.阿克森费尔德-里格尔畸形的分子遗传学
Hum Mol Genet. 2002 May 15;11(10):1177-84. doi: 10.1093/hmg/11.10.1177.
8
Identification of members of the Wnt signaling pathway in the embryonic pituitary gland.胚胎垂体中Wnt信号通路成员的鉴定。
Mamm Genome. 2001 Nov;12(11):843-51. doi: 10.1007/s00335-001-2076-0.
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Pitx2 is required at multiple stages of pituitary organogenesis: pituitary primordium formation and cell specification.垂体器官发生的多个阶段都需要Pitx2：垂体原基形成和细胞特化。
Development. 2002 Jan;129(2):329-37. doi: 10.1242/dev.129.2.329.
10
Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.与人类垂体疾病相关的Hesx1/HESX1新突变的分子效应
Development. 2001 Dec;128(24):5189-99. doi: 10.1242/dev.128.24.5189.