文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期，新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

全前脑畸形的发病机制。

Pathogenesis of holoprosencephaly.

作者信息

Geng Xin, Oliver Guillermo

机构信息

Department of Genetics and Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.

出版信息

J Clin Invest. 2009 Jun;119(6):1403-13. doi: 10.1172/JCI38937. Epub 2009 Jun 1.

DOI:10.1172/JCI38937
PMID:19487816
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2689134/
Abstract

Holoprosencephaly (HPE), the most common human forebrain malformation, occurs in 1 in 250 fetuses and 1 in 16,000 live births. HPE is etiologically heterogeneous, and its pathology is variable. Several mouse models of HPE have been generated, and some of the molecular causes of different forms of HPE and the mechanisms underlying its variable pathology have been revealed by these models. Herein, we summarize the current knowledge on the genetic alterations that cause HPE and discuss some important questions about this disease that remain to be answered.

摘要

全前脑畸形（HPE）是人类最常见的前脑畸形，在250例胎儿中就有1例发生，在16000例活产儿中也有1例发生。HPE病因具有异质性，其病理表现多样。已经建立了几种HPE小鼠模型，这些模型揭示了不同形式HPE的一些分子病因及其病理表现多样的潜在机制。在此，我们总结了目前关于导致HPE的基因改变的知识，并讨论了有关这种疾病仍有待解答的一些重要问题。

相似文献

[1]
Pathogenesis of holoprosencephaly.

J Clin Invest. 2009-6

[2]
A forebrain undivided: Unleashing model organisms to solve the mysteries of holoprosencephaly.

Dev Dyn. 2019-5-1

[3]
Murine models of holoprosencephaly.

Curr Top Dev Biol. 2008

[4]
Embryogenesis of holoprosencephaly.

Am J Med Genet A. 2007-12-15

[5]
Early pathogenesis of holoprosencephaly.

Am J Med Genet C Semin Med Genet. 2010-2-15

[6]
The morphogen signaling network in forebrain development and holoprosencephaly.

J Neuropathol Exp Neurol. 2007-7

[7]
Embryonic holoprosencephaly: pathology and phenotypic variability.

Congenit Anom (Kyoto). 2006-12

[8]
Neuropathology of holoprosencephaly.

Am J Med Genet C Semin Med Genet. 2018-6

[9]
Rescue of holoprosencephaly in fetal alcohol-exposed Cdon mutant mice by reduced gene dosage of Ptch1.

PLoS One. 2013-11-11

[10]
Zebrafish model of holoprosencephaly demonstrates a key role for TGIF in regulating retinoic acid metabolism.

Hum Mol Genet. 2008-2-15

引用本文的文献

[1]
Semilobar Holoprosencephaly Caused by a Novel and De Novo Pathogenic Variant.

Balkan J Med Genet. 2023-5-2

[2]
Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.

Children (Basel). 2023-3-30

[3]
Combined exposure to alcohol and cannabis during development: Mechanisms and outcomes.

Alcohol. 2023-8

[4]
Brain Organization and Human Diseases.

Cells. 2022-5-14

[5]
Asymptomatic Hypernatremia in an Infant with Midline Defects.

EJIFCC. 2021-12-7

[6]
The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes.

Int J Mol Sci. 2021-9-12

[7]
Prenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus.

Rom J Morphol Embryol. 2020

[8]
Diabetes, Oxidative Stress, and DNA Damage Modulate Cranial Neural Crest Cell Development and the Phenotype Variability of Craniofacial Disorders.

Front Cell Dev Biol. 2021-5-20

[9]
Maternal preconception PFOS exposure of Drosophila melanogaster alters reproductive capacity, development, morphology and nutrient regulation.

Food Chem Toxicol. 2021-5

[10]
mutation and fetal alcohol converge on Nodal signaling in a mouse model of holoprosencephaly.

Elife. 2020-9-2

本文引用的文献

[1]
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Hum Mutat. 2009-4

[2]
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.

Nat Genet. 2008-11

[3]
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Hum Mol Genet. 2008-12-15

[4]
Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.

Dev Cell. 2008-8

[5]
Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation.

Hum Mol Genet. 2008-10-1

[6]
Fetal ethanol exposure activates protein kinase A and impairs Shh expression in prechordal mesendoderm cells in the pathogenesis of holoprosencephaly.

Birth Defects Res A Clin Mol Teratol. 2008-4

[7]
Six3 inactivation causes progressive caudalization and aberrant patterning of the mammalian diencephalon.

Development. 2008-2

[8]
Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain.

Dev Neurobiol. 2008-1

[9]
Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly.

Development. 2007-11

[10]
Holoprosencephaly: new models, new insights.

Expert Rev Mol Med. 2007-9-24

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索