A case report of retinal dystrophy in patients with PACS1 syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A case report of retinal dystrophy in patients with PACS1 syndrome

Published:2023-05-23 Issue:1 Volume:45 Page:103-107
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Brown Jaime E¹,Aldred Breanna¹,Boulter Tyler¹,Sullivan Rachel¹,Ver Hoeve James¹²,Pattnaik Bikash R¹²³,Schmitt Melanie¹

Affiliation:

1. Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA

2. McPherson Eye Research Institute, Madison, Wisconsin, USA

3. Department of Pediatrics, University of Wisconsin-Madison School of Medicine and Public Health, Madison, Wisconsin, USA

Funder

Research to Prevent Blindness

John W. Doolittle Professorship

Retina Research Foundation M.D. Matthews Research Professorship

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2023.2216272

Reference14 articles.

1. Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

2. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia

3. Nephrocystin-4 Regulates Pyk2-induced Tyrosine Phosphorylation of Nephrocystin-1 to Control Targeting to Monocilia

4. Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

5. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome

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