Defective ciliogenesis in INPP5E- related Joubert syndrome-Reference-Cited by-同舟云学术

Defective ciliogenesis in INPP5E- related Joubert syndrome

Published:2017-10-20 Issue:12 Volume:173 Page:3231-3237
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hardee Isabel¹,Soldatos Ariane¹,Davids Mariska¹,Vilboux Thierry²³,Toro Camilo¹⁴,David Karen L.⁵,Ferreira Carlos R.⁴^ORCID,Nehrebecky Michele¹,Snow Joseph⁶,Thurm Audrey⁶,Heller Theo⁷,Macnamara Ellen F.¹⁴,Gunay-Aygun Meral²⁴⁸,Zein Wadih M.⁹,Gahl William A.¹²⁴,Malicdan May Christine V.¹²⁴^ORCID

Affiliation:

1. NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

2. Medical Genetics Branch, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

3. Department of Medical Genetics; Inova Translational Medicine Institute; Falls Church Virginia

4. Office of the Clinical Director, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

5. New York Methodist Hospital; Brooklyn New York

6. Office of the Clinical Director, National Institute of Mental health; National Institutes of Health; Bethesda Maryland

7. National Institute of Diabetes and Digestive and Kidney Diseases; NIH; Bethesda Maryland

8. Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

9. Ophthalmic Genetics and Visual Function Branch, National Eye Institute; National Institutes of Health; Bethesda Maryland

Funder

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies;Bielas;Nature Genetics,2009

2. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency;Bone;Genetics in medicine: Official journal of the American College of Medical Genetics,2016

3. Joubert Syndrome and related disorders;Brancati;Orphanet Journal of Rare Diseases,2010

4. Modulation of ciliary phosphoinositide content regulates trafficking and sonic hedgehog signaling output;Chavez;Developmental Cell,2015

5. Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies;Conduit;FEBS Letters,2012

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3. Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology;Annals of Human Genetics;2023-11-03

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