瓦登伯革-赫什朋病中内皮素受体B基因的突变 - Suppr

Suppr

超能文献

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.

作者信息

Attié T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S

机构信息

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Paris, France.

出版信息

Hum Mol Genet. 1995 Dec;4(12):2407-9. doi: 10.1093/hmg/4.12.2407.

DOI:10.1093/hmg/4.12.2407

PMID:8634719

Abstract

摘要

相似文献

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.瓦登伯革-赫什朋病中内皮素受体B基因的突变

Hum Mol Genet. 1995 Dec;4(12):2407-9. doi: 10.1093/hmg/4.12.2407.

A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome.一名患有沙-瓦登伯格综合征和唐氏综合征患者的内皮素B受体基因中的新型突变。

J Med Genet. 2001 Sep;38(9):646-7. doi: 10.1136/jmg.38.9.646.

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?瓦登伯革-希尔施普龙病中的杂合性内皮素3突变：EDN3/EDNRB基因突变对神经嵴病表型是否存在剂量效应？

J Med Genet. 2001 Mar;38(3):205-9. doi: 10.1136/jmg.38.3.205.

Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease.先天性巨结肠病中内皮素B受体和内皮素-3基因的突变

Pediatr Surg Int. 1997;12(1):19-23. doi: 10.1007/BF01194795.

A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.伴有内皮素-B受体基因新自发突变的4型瓦登伯革氏综合征小鼠模型

Mamm Genome. 2002 Jan;13(1):30-5. doi: 10.1007/s00335-001-3038-2.

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.两例新型IV型瓦登伯格综合征的遗传和表型异质性

Am J Med Genet A. 2009 Oct;149A(10):2296-302. doi: 10.1002/ajmg.a.33026.

Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.患有瓦登伯革氏综合征-先天性巨结肠病的一个家族中内皮素-B受体基因的新型无义突变。

Am J Med Genet. 1999 Nov 5;87(1):69-71.

Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.瓦登伯革-希尔施普龙病中内皮素-B受体基因的新型突变

Pediatr Surg Int. 2005 Dec;21(12):960-3. doi: 10.1007/s00383-005-1553-z. Epub 2005 Oct 20.

Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden.瑞典先天性巨结肠症患者内皮素受体B基因的突变

Clin Genet. 1999 Mar;55(3):215-7. doi: 10.1034/j.1399-0004.1999.550312.x.

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).内皮素-3基因的纯合突变与瓦登伯革氏综合征2型合并先天性巨结肠表型（沙-瓦登伯革综合征）相关。

Nat Genet. 1996 Apr;12(4):445-7. doi: 10.1038/ng0496-445.

引用本文的文献

Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.通过下一代测序技术在 PAX3、SOX10、EDNRB 和 MITF 基因中鉴定出 9 种新型变异与 Waardenburg 综合征相关。

Mol Genet Genomic Med. 2022 Dec;10(12):e2082. doi: 10.1002/mgg3.2082. Epub 2022 Nov 4.

The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications.先天性巨结肠症的新兴遗传格局及其潜在临床应用

Front Pediatr. 2021 Aug 5;9:638093. doi: 10.3389/fped.2021.638093. eCollection 2021.

Congenital Deafness and Recent Advances Towards Restoring Hearing Loss.先天性耳聋与听力损失修复的最新进展

Curr Protoc. 2021 Mar;1(3):e76. doi: 10.1002/cpz1.76.

Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.沃登伯格综合征的遗传学见解、疾病机制和生物治疗学。

Gene Ther. 2022 Sep;29(9):479-497. doi: 10.1038/s41434-021-00240-2. Epub 2021 Feb 25.

Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.致病性 EXOSC2 突变的遗传和基因组研究在新描述的 SHRF 疾病中表明自噬途径在疾病发病机制中的作用。

Hum Mol Genet. 2020 Mar 13;29(4):541-553. doi: 10.1093/hmg/ddz251.

Null mutation of the endothelin receptor type B gene causes embryonic death in the GK rat.内皮素受体 B 基因突变导致 GK 大鼠胚胎死亡。

PLoS One. 2019 Jun 6;14(6):e0217132. doi: 10.1371/journal.pone.0217132. eCollection 2019.

Genetic Hearing Loss and Gene Therapy.遗传性听力损失与基因治疗

Genomics Inform. 2018 Dec;16(4):e20. doi: 10.5808/GI.2018.16.4.e20. Epub 2018 Dec 28.

Rare Association of Waardenburg Syndrome with Minimal Change Disease.瓦登伯格综合征与微小病变病的罕见关联。

Indian J Nephrol. 2018 May-Jun;28(3):226-228. doi: 10.4103/ijn.IJN_55_17.

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.综合征性听力损失：常见临床表现与遗传学简要综述

J Pediatr Genet. 2018 Mar;7(1):1-8. doi: 10.1055/s-0037-1617454. Epub 2018 Jan 4.

EdnrB Governs Regenerative Response of Melanocyte Stem Cells by Crosstalk with Wnt Signaling.EdnrB通过与Wnt信号通路相互作用调控黑素细胞干细胞的再生反应。

Cell Rep. 2016 May 10;15(6):1291-302. doi: 10.1016/j.celrep.2016.04.006. Epub 2016 Apr 28.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验