Pituitary Hypoplasia

Gangat Mariam; Radovick Sally

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Pituitary Hypoplasia

机译：垂体发育不全

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This article summarizes pituitary development and function as well as specific mutations of genes encoding the following transcription factors: HESX1, LHX3, LHX4, POUT F1, PROP1, and OTX2. Although several additional genetic defects related to hypopituitarism have been identified, this article focuses on these selected factors, as they have been well described in the literature in terms of clinical characterization of affected patients and molecular mechanisms of action, and therefore, are very relevant to clinical practice.

机译：本文总结了垂体开发和功能以及编码以下转录因子的基因的特定突变：HESX1，LHX3，LHX4，POUT F1，PROP1和OTX2。虽然已经确定了几种与低钠缺陷主义有关的额外遗传缺陷，但本文重点介绍这些选定的因素，因为它们在文献中在文献中在受影响患者的临床表征和分子作用机制方面进行了详细描述，因此与之非常相关临床实践。

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来源
《Endocrinology and Metabolism Clinics of North America》 |2017年第2期|共12页
作者
Gangat Mariam; Radovick Sally;
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作者单位

Rutgers State Univ Rutgers Robert Wood Johnson Med Sch Child Hlth Inst New Jersey Dept Pediat;

Rutgers State Univ Rutgers Robert Wood Johnson Med Sch Child Hlth Inst New Jersey Dept Pediat;

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原文格式 PDF
正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词
Pituitary development; Transcription factor; Combined pituitary hormone deficiency; Hypopituitarism;

机译：垂体发展;转录因子;组合垂体激素缺乏;低钠缺陷;

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专利

1. Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia [J] . MarcelloScala, AndreaAccogli, Anna Maria ElsaAllegri, Journal of pediatric endocrinology & metabolism: JPEM . 2019,第1期

机译：与异位后垂体，垂体茎和前脑前发育不全的重复相关的家族robo1缺失
2. Pituitary Stalk Interruption Syndrome and Isolated Pituitary Hypoplasia May Be Caused by Mutations in Holoprosencephaly-Related Genes [J] . Christina Tatsi, Amalia Sertedaki, Antonis Voutetakis, The journal of clinical endocrinology and metabolism . 2013,第4期

机译：垂体前叶相关基因的突变可能导致垂体梗阻综合征和孤立的垂体发育不全。
3. 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 [J] . Junko TSUBAKI, Kenji FUJIEDA, Koji OKUHARA, Endocrine journal . 2007,第4期

机译：LHX4基因的新型畸形突变（P366T）导致严重的垂体激素缺乏垂体发育不全，异位后叶和发达不良的罕有子
4. TRANSSPHENOIDAL SURGERY FOR PITUITARY ADENOMAS IN DOGS WITH PITUITARY DEPENDENT HYPERADRENOCORTISOLISM USING A HIGH DEFINITION VIDEO TELESCOPE: METHODS AND RESULTS [C] . Tina Jo Owen American College of Veterinary Surgeons Veterinary Symposium . 2014

机译：使用高清晰度视频望远镜的垂体依赖高肾上腺皮质溶胶的垂体腺细胞外科手术：方法和结果
5. Lesioning of the Nucleus of the Hippocampal Commissure Followed by Food Deprivation Stress in Birds Demonstrates Simultaneous Involvement in Both the Hypothalamo-pituitary-adrenal Axis and the Hypothalamo-pituitary-thyroid Axis [D] . Kidd, Michael, Jr. 2020

机译：鸟类贫瘠的海马壳体的损伤，随后鸟类食品剥夺胁迫证明了下丘脑 - 垂体 - 肾上腺轴和下丘脑 - 垂体 - 甲状腺轴同时参与
6. Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells [O] . Ryusaku Matsumoto, Hidetaka Suga, Takashi Aoi, 2020

机译：先天性垂体发育不全模型表明下丘脑OTX2调节垂体祖细胞
7. The potential involvement of the pituitary transcription factor HESX1 in the septo-optic-pituitary hypoplasia with normal septum pellucidum but life-threatening neonatal phenotype [O] . Natasha Guimarães Ludwig, Marcos Antônio Dias, Mateus Nóbrega Aoki, 2018

机译：垂体转录因子Hesx1在静脉内垂体衰老中的潜在累及常见的隔膜薄膜薄膜，但危及生命的新生儿表型

Pituitary Hypoplasia

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