Familial Microdeletion of 17q24.3 Upstream ofSOX9Is Associated With Isolated Pierre Robin Sequence Due to Position Effect-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Familial Microdeletion of 17q24.3 Upstream ofSOX9Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

Published:2013-03-26 Issue:5 Volume:161 Page:1167-1172
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Amarillo Ina E.¹,Dipple Katrina M.²,Quintero-Rivera Fabiola¹

Affiliation:

1. Department of Pathology and Laboratory Medicine; David Geffen School of Medicine, University of California Los Angeles; Los Angeles, California

2. Department of Human Genetics and Pediatrics; David Geffen School of Medicine, University of California Los Angeles; Los Angeles, California

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6;Akiyama;Genes Dev,2002

2. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence;Benko;Nat Genet,2009

3. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development;Benko;J Med Genet,2011

4. SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway;Bien-Willner;Hum Mol Genet,2007

5. Regulation of the human Sox9 promoter by the CCAAT-binding factor;Colter;Matrix Biol,2005

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes;Human Genetics;2024-06

2. Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives;Bone Reports;2024-03

3. SOX9 gene shows association with adolescent idiopathic scoliosis predisposition in Northwest Indians;European Journal of Medical Research;2024-01-20

4. Structural elements promote architectural stripe formation and facilitate ultra-long-range gene regulation at a human disease locus;Molecular Cell;2023-05

5. Shaping faces: genetic and epigenetic control of craniofacial morphogenesis;Nature Reviews Genetics;2023-04-24

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3