TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome-Reference-Cited by-同舟云学术

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TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome

Published:2015-11-23 Issue:2 Volume:37 Page:155-159
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Shylo Natalia A.¹,Christopher Kasey J.¹,Iglesias Alejandro²,Daluiski Aaron³,Weatherbee Scott D.¹

Affiliation:

1. Department of Genetics, Yale University; School of Medicine, P.O. Box 208005; SHM I-142D, 333 Cedar Street New Haven CT 06520

2. Division of Clinical Genetics, Department of Pediatrics; Columbia University Medical Center; New York New York

3. Department of Hand and Upper Extremity Surgery; Hospital for Special Surgery; New York New York

Funder

NIAMS/NIH

NIDDK/NIH

NIGMS/NIH

National Science Foundation Graduate Research Fellowship

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22925/fullpdf

Reference37 articles.

1. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX;Adly;Hum Mutat,2014

2. Meckel-Gruber syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe;Barisic;Eur J Hum Genet,2015

3. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development;Barker;Organogenesis,2014

4. Joubert syndrome and related disorders;Brancati;Orphanet J Rare Dis,2010

5. Identification and characterization of polycystin-2, the PKD2 gene product;Cai;J Biol Chem,1999

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1. Pluripotent stem cell-derived models of retinal disease: Elucidating pathogenesis, evaluating novel treatments, and estimating toxicity;Progress in Retinal and Eye Research;2024-05

2. Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules;Experimental Brain Research;2024-01-17

3. Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid;Life Science Alliance;2023-10-20

4. A gene‐based association test of interactions for maternal–fetal genotypes identifies genes associated with nonsyndromic congenital heart defects;Genetic Epidemiology;2023-06-21

5. Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia;The American Journal of Human Genetics;2022-10

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