DLL4功能丧失性杂合突变导致亚当斯-奥利弗综合征。 - Suppr

DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.

作者信息

Aminkeng F

机构信息

Department of Medical Genetics, Center for Molecular Medicine and Therapeutics, The Canadian Pharmacogenomic Network for Drug Safety, Vancouver, Canada.

出版信息

Clin Genet. 2015 Dec;88(6):532. doi: 10.1111/cge.12681. Epub 2015 Oct 16.

DOI:10.1111/cge.12681

PMID:26419402

Abstract

摘要

相似文献

DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.

Clin Genet. 2015 Dec;88(6):532. doi: 10.1111/cge.12681. Epub 2015 Oct 16.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20.

Adams-Oliver syndrome.

Int J Dermatol. 2014 Mar;53(3):352-4. doi: 10.1111/j.1365-4632.2012.05533.x. Epub 2013 Dec 10.

[Adams-Oliver syndrome].

Ann Dermatol Venereol. 2011 Oct;138(10):712-4. doi: 10.1016/j.annder.2011.05.027. Epub 2011 Jul 14.

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

J Hum Genet. 2017 Sep;62(9):851-855. doi: 10.1038/jhg.2017.48. Epub 2017 Apr 27.

A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.

Chin Med J (Engl). 2019 Jul 20;132(14):1755-1757. doi: 10.1097/CM9.0000000000000316.

Adams-Oliver syndrome and familial MYH9 mutation.

Pediatr Int. 2012 Jun;54(3):407-9. doi: 10.1111/j.1442-200X.2011.03466.x.

Adams Oliver syndrome with cerebellar cortical dysplasia.

Childs Nerv Syst. 2018 Jun;34(6):1109-1110. doi: 10.1007/s00381-018-3810-1. Epub 2018 Apr 22.

Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.

Pediatr Dermatol. 2017 Sep;34(5):e249-e253. doi: 10.1111/pde.13239.

Adams Oliver Syndrome.

Indian Pediatr. 2015 Jul;52(7):633-4.

引用本文的文献

Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism.

Head Face Med. 2021 May 26;17(1):17. doi: 10.1186/s13005-021-00268-0.

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Hum Mol Genet. 2020 Mar 13;29(4):566-579. doi: 10.1093/hmg/ddz270.

Congenital diseases caused by defective -glycosylation of Notch receptors.

Nagoya J Med Sci. 2018 Aug;80(3):299-307. doi: 10.18999/nagjms.80.3.299.

O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals.

Elife. 2017 Apr 11;6:e24419. doi: 10.7554/eLife.24419.

Mapping Sites of O-Glycosylation and Fringe Elongation on Drosophila Notch.

J Biol Chem. 2016 Jul 29;291(31):16348-60. doi: 10.1074/jbc.M116.732537. Epub 2016 Jun 6.

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

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.

Clin Genet. 2015 Dec;88(6):532. doi: 10.1111/cge.12681. Epub 2015 Oct 16.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20.

Adams-Oliver syndrome.

Int J Dermatol. 2014 Mar;53(3):352-4. doi: 10.1111/j.1365-4632.2012.05533.x. Epub 2013 Dec 10.

[Adams-Oliver syndrome].

Ann Dermatol Venereol. 2011 Oct;138(10):712-4. doi: 10.1016/j.annder.2011.05.027. Epub 2011 Jul 14.

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

J Hum Genet. 2017 Sep;62(9):851-855. doi: 10.1038/jhg.2017.48. Epub 2017 Apr 27.

A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome.

Chin Med J (Engl). 2019 Jul 20;132(14):1755-1757. doi: 10.1097/CM9.0000000000000316.

Adams-Oliver syndrome and familial MYH9 mutation.

Pediatr Int. 2012 Jun;54(3):407-9. doi: 10.1111/j.1442-200X.2011.03466.x.

Adams Oliver syndrome with cerebellar cortical dysplasia.

Childs Nerv Syst. 2018 Jun;34(6):1109-1110. doi: 10.1007/s00381-018-3810-1. Epub 2018 Apr 22.

Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations.

Pediatr Dermatol. 2017 Sep;34(5):e249-e253. doi: 10.1111/pde.13239.

Adams Oliver Syndrome.

Indian Pediatr. 2015 Jul;52(7):633-4.

引用本文的文献

Targeted sequencing of NOTCH signaling pathway genes and association analysis of variants correlated with mandibular prognathism.

Head Face Med. 2021 May 26;17(1):17. doi: 10.1186/s13005-021-00268-0.

Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.

Hum Mol Genet. 2020 Mar 13;29(4):566-579. doi: 10.1093/hmg/ddz270.

Congenital diseases caused by defective -glycosylation of Notch receptors.

Nagoya J Med Sci. 2018 Aug;80(3):299-307. doi: 10.18999/nagjms.80.3.299.

O-GlcNAc on NOTCH1 EGF repeats regulates ligand-induced Notch signaling and vascular development in mammals.

Elife. 2017 Apr 11;6:e24419. doi: 10.7554/eLife.24419.

Mapping Sites of O-Glycosylation and Fringe Elongation on Drosophila Notch.

J Biol Chem. 2016 Jul 29;291(31):16348-60. doi: 10.1074/jbc.M116.732537. Epub 2016 Jun 6.

DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献