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HESX1 and Septo-Optic Dysplasia.

作者信息

Dattani Mehul Tulsidas, Robinson Iain Caf

机构信息

London Centre for Paediatric Endocrinology, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

出版信息

Rev Endocr Metab Disord. 2002 Dec;3(4):289-300. doi: 10.1023/a:1020945406356.

DOI:10.1023/a:1020945406356
PMID:12424431
Abstract
摘要

相似文献

1
HESX1 and Septo-Optic Dysplasia.HESX1与视隔发育不良
Rev Endocr Metab Disord. 2002 Dec;3(4):289-300. doi: 10.1023/a:1020945406356.
2
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
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3
Hesx1 gene in midline cerebral defects.
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4
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.HESX1增强的抑制作用作为垂体功能减退和视隔发育不良的一个病因
J Clin Endocrinol Metab. 2003 Oct;88(10):4832-9. doi: 10.1210/jc.2002-021868.
5
HESX1: a novel gene implicated in a familial form of septo-optic dysplasia.HESX1：一种与家族性视隔发育不良相关的新基因。
Acta Paediatr Suppl. 1999 Dec;88(433):49-54. doi: 10.1111/j.1651-2227.1999.tb14403.x.
6
Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?异位垂体后叶与脑室周围异位：具有相同潜在机制的脑畸形？
AJNR Am J Neuroradiol. 2002 Oct;23(9):1475-81.
7
Structural hypothalamic defects.
J Pediatr Endocrinol Metab. 2002 Dec;15 Suppl 5:1423-4.
8
Molecular genetics of septo-optic dysplasia.视隔发育不良的分子遗传学
Horm Res. 2000;53 Suppl 1:26-33. doi: 10.1159/000053201.
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From panhypopituitarism to combined pituitary deficiencies: do we need the anterior pituitary?从全垂体功能减退到联合垂体功能缺陷：我们需要腺垂体吗？
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Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.视-隔发育不良和其他中线缺陷：转录因子的作用：HESX1 及其他。
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):115-24. doi: 10.1016/j.beem.2010.06.008.

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2
The molecular basis of hypopituitarism.垂体功能减退症的分子基础。
Trends Endocrinol Metab. 2009 Dec;20(10):506-16. doi: 10.1016/j.tem.2009.06.005. Epub 2009 Oct 23.
3
Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.

本文引用的文献

1
[Studies on malformation of cranio-encephalic sutures. III. Agenesis of the septum lucidum with malformation of the optic tract].[颅缝畸形的研究。III. 透明隔缺如伴视束畸形]
Schweiz Arch Neurol Psychiatr. 1956;77(1-2):267-92.
2
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.
3
Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis.
HESX1基因杂合突变导致垂体功能减退和多种解剖结构畸形，无视隔发育不良特征。
J Endocrinol Invest. 2008 Aug;31(8):689-93. doi: 10.1007/BF03346416.
4
Magnetic resonance imaging of the hypothalamus-pituitary unit in childrensuspected of hypopituitarism: who, how and when toinvestigate.疑似垂体功能减退儿童下丘脑 - 垂体单位的磁共振成像：何人、如何以及何时进行检查。
J Endocrinol Invest. 2004 May;27(5):496-509. doi: 10.1007/BF03345298.
垂体器官发生需要配对样同源结构域阻遏物/TLE共阻遏物复合物和相关激活剂的时间调控。
Genes Dev. 2001 Dec 1;15(23):3193-207. doi: 10.1101/gad.932601.
4
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.
5
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.与孤立性先天性垂体发育不全和视隔发育不良相关的杂合子HESX1突变。
Hum Mol Genet. 2001 Jan 1;10(1):39-45. doi: 10.1093/hmg/10.1.39.
6
Signaling mechanisms in pituitary morphogenesis and cell fate determination.垂体形态发生和细胞命运决定中的信号传导机制。
Curr Opin Cell Biol. 1999 Dec;11(6):669-77. doi: 10.1016/s0955-0674(99)00034-4.
7
Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation.与DNA结合的HoxB1-Pbx1异二聚体的结构：六肽和第四个同源结构域螺旋在复合物形成中的作用。
Cell. 1999 Feb 19;96(4):587-97. doi: 10.1016/s0092-8674(00)80662-5.
8
Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum.垂体功能障碍、发病率和死亡率与先天性大脑中线畸形
Eur J Pediatr. 1999 Feb;158(2):97-102. doi: 10.1007/s004310051026.
9
Why is the retention of gonadotrophin secretion common in children with panhypopituitarism due to septo-optic dysplasia?
Eur J Endocrinol. 1999 Jan;140(1):48-50. doi: 10.1530/eje.0.1400048.
10
Axis development and early asymmetry in mammals.哺乳动物的体轴发育与早期不对称性
Cell. 1999 Jan 22;96(2):195-209. doi: 10.1016/s0092-8674(00)80560-7.