Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish-Reference-Cited by-同舟云学术

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

Published:2019-10-17 Issue:1 Volume:41 Page:240-254
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Estrada‐Cuzcano Alejandro¹^ORCID,Etard Christelle²,Delvallée Clarisse¹,Stoetzel Corinne¹,Schaefer Elise¹³,Scheidecker Sophie¹⁴,Geoffroy Véronique¹,Schneider Aline¹,Studer Fouzia⁵,Mattioli Francesca⁶⁷⁸⁹,Chennen Kirsley¹¹⁰,Sigaudy Sabine¹¹,Plassard Damien¹²,Poch Olivier¹⁰,Piton Amélie⁴⁶⁷⁸⁹^ORCID,Strahle Uwe²,Muller Jean¹⁴^ORCID,Dollfus Hélène¹³⁵

Affiliation:

1. Laboratoire de Génétique médicale, UMR_S INSERM U1112, IGMA, Faculté de Médecine, FMTSUniversité de StrasbourgStrasbourg France

2. Institute of Toxicology and Genetics (ITG)Karlsruhe Institute of Technology (KIT)Karlsruhe Eggenstein‐Leopoldshafen Germany

3. Service de Génétique Médicale, Institut de Génétique Médicale d'AlsaceHôpitaux Universitaires de StrasbourgStrasbourg France

4. Laboratoires de Diagnostic GénétiqueHôpitaux Universitaires de StrasbourgStrasbourg France

5. Centre de Référence pour les affections rares en génétique ophtalmologique, CARGO, Filière SENSGENEHôpitaux Universitaires de StrasbourgStrasbourg France

6. Institut de Génétique et de Biologie Moléculaire et CellulaireIllkirch‐Graffenstaden France

7. Institut de Génétique et de Biologie Moléculaire et CellulaireINSERM U1258Illkirch‐Graffenstaden France

8. Institut de Génétique et de Biologie Moléculaire et CellulaireCNRS UMR 7104Illkirch‐Graffenstaden France

9. Institut de Génétique et de Biologie Moléculaire et CellulaireUniversité de StrasbourgIllkirch France

10. Complex Systems and Translational Bioinformatics, ICube UMR 7357, Fédération de Médecine TranslationnelleUniversité de StrasbourgStrasbourg France

11. Département de Génétique MédicaleHôpital de la TimoneMarseille France

12. Plateforme GenomEastIGBMCIllkirch‐Graffenstaden France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23924

Reference78 articles.

1. Evolution of vertebrate appendicular structures: Insight from genetic and palaeontological data

2. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

3. Dynamic Changes in the Response of Cells to Positive Hedgehog Signaling during Mouse Limb Patterning

4. A global reference for human genetic variation

5. Genome-wide, whole mount in situ analysis of transcriptional regulators in zebrafish embryos

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1. Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7;Molecular Syndromology;2023

2. Genetic overview of postaxial polydactyly: Updated classification;Clinical Genetics;2022-10-02

3. Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A;Genomics;2021-07

4. Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing;Computational and Structural Biotechnology Journal;2021