Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia-Reference-Cited by-同舟云学术

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

Published:2014-03-18 Issue:5 Volume:29 Page:1032-1034
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Callea M.¹,Willoughby C.E.²,Nieminen P.³,Di Stazio M.⁴,Bellacchio E.⁵,Giglio S.⁶⁷,Sani I.⁷,Vinciguerra A.¹,Maglione M.⁴,Tadini G.⁸⁹,Clarich G.¹

Affiliation:

1. Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”- Trieste; Italy

2. Department of Eye and Vision Science; Institute of Ageing and Chronic Disease; University of Liverpool; Liverpool UK

3. Department of Oral and Maxillofacial Diseases; Institute of Dentistry; Helsinki University Central Hospital; University of Helsinki; Helsinki Finland

4. Department of Medical, Surgical and Health Sciences; University of Trieste; Trieste Italy

5. Research Laboratory; Bambino Gesù Children's Hospital IRCCS; Rome Italy

6. Department of Clinical Pathophysiology; Medical Genetics Section; University of Florence; Florence Italy

7. Medical Genetics Unit; Meyer Children's University Hospital; Florence Italy

8. Fondazione IRCCS Cà Granda; Ospedale Maggiore Policlinico Milano; Milan Italy

9. Department of Pediatric Dermatology; University of Milan; Milan Italy

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.12457/fullpdf

Reference10 articles.

1. Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia;Plaisancié;Am J Med Genet A,2013

2. Ear nose throat manifestations in hypoidrotic ectodermal dysplasia;Callea;Int J Pediatr Otorhinolaryngol,2013

3. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia;Monreal;Nat Genet,1999

4. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein;Kere;Nat Genet,1996

5. Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis;Haghighi;Br J Dermatol,2013

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1. EDA ligand triggers plasma membrane trafficking of its receptor EDAR via PKA activation and SNAP23-containing complexes;Cell & Bioscience;2023-07-10

2. Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis;Frontiers in Genetics;2020-02-04

3. A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families;The Journal of Gene Medicine;2019-08-05

4. Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia;The Journal of Dermatology;2019-06-27

5. Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair;Human Molecular Genetics;2017-12-06