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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mainzer-saldino syndrome is a ciliopathy caused by IFT140 mutations
American Journal of Human Genetics, Volume 90, No. 5, Year 2012
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Description
Mainzer-Saldino syndrome (MSS) is a rare disorder characterized by phalangeal cone-shaped epiphyses, chronic renal failure, and early-onset, severe retinal dystrophy. Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome. IFT140 is one of the six currently known components of the intraflagellar transport complex A (IFT-A) that regulates retrograde protein transport in ciliated cells. Ciliary abundance and localization of anterograde IFTs were altered in fibroblasts of affected individuals, a result that supports the pivotal role of IFT140 in proper development and function of ciliated cells. © 2012 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Perrault, Isabelle
France, Paris
Inserm
Saunier, Sophie
France, Paris
Inserm
Hanein, Sylvain
France, Paris
Inserm
Filhol, Emilie
France, Paris
Inserm
Bizet, Albane A.
France, Paris
Inserm
Collins, F.
Australia, Sydney
The Children's Hospital at Westmead
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
College of Medicine
Gerber, Sylvie
France, Paris
Inserm
Delphin, Nathalie
France, Paris
Inserm
Bigot, Karine
France, Paris
Centre D'exploration et de Ressources Thérapeutiques en Ophtalmologie (certo)
Orssaud, Christophe
France, Paris
Université Paris Cité
Silva, Eduardo
Portugal, Coimbra
Centro Hospitalar e Universitário de Coimbra
Baudouin, Véronique
France, Paris
Chu, Paris
Oud, Machteld M.
Netherlands, Nijmegen
Radboud University Medical Center
Shannon, Nora L.
United Kingdom, Nottingham
Nottingham City Hospital
Le Merrer, Martine F.
France, Paris
Inserm
Roche, Olivier
France, Paris
Université Paris Cité
Piètrement, Christine
France, Reims
American Memorial Hospital
Goumid, Jamal
France, Paris
Hôpital Robert-debré Ap-hp
Baumann, Clarisse
France, Paris
Hôpital Robert-debré Ap-hp
Bôle-Feysot, Christine
France, Paris
Université Paris Cité
Nitschké, Patrick
France, Paris
Université Paris Cité
Zahrate, Mohammed
France, Paris
Université Paris Cité
Beales, Philip L.Philip L.
United Kingdom, London
Ucl Great Ormond Street Institute of Child Health
Arts, Heleen H.
Netherlands, Nijmegen
Radboud University Medical Center
Münnich, Arnold
France, Paris
Inserm
Kaplan, Josseline C.
France, Paris
Inserm
Antignac, Corinne
France, Paris
Inserm
Cormier-Dairé, Valeŕie
France, Paris
Inserm
Rozet, Jean Michel
France, Paris
Inserm
Statistics
Citations: 180
Authors: 30
Affiliations: 12
Identifiers
Doi:
10.1016/j.ajhg.2012.03.006
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Disability
Genetics And Genomics
Health System And Policy