Mutations inEXPH5result in autosomal recessive inherited skin fragility-Reference-Cited by-同舟云学术

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Mutations inEXPH5result in autosomal recessive inherited skin fragility

Published:2014-01 Issue:1 Volume:170 Page:196-199
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Liu L.¹,Mellerio J.E.²³,Martinez A.E.³,McMillan J.R.¹,Aristodemou S.¹,Parsons M.⁴,McGrath J.A.²

Affiliation:

1. The Robin Eady National Diagnostic Epidermolysis Bullosa Laboratory; GSTS Pathology; St Thomas' Hospital; London U.K

2. St John's Institute of Dermatology; King's College London (Guy's Campus); London U.K

3. Department of Paediatric Dermatology; Great Ormond Street Hospital for Children; NHS Foundation Trust; London U.K

4. Randall Division of Cell and Molecular Biophysics; King's College London (Guy's Campus); London U.K

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.12723/fullpdf

Reference15 articles.

1. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008

2. Progress in epidermolysis bullosa research: summary of DEBRA International Research Conference 2012;Bruckner-Tuderman;J Invest Dermatol,2013

3. Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility;McGrath;Am J Hum Genet,2012

4. Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations;Pigors;J Invest Dermatol,2013

5. Rab GTPases as coordinators of vesicle traffic;Stenmark;Nat Rev Mol Cell Biol,2009

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1. Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children;International Journal of Molecular Sciences;2022-11-18

2. Pathomechanisms of epidermolysis bullosa: Beyond structural proteins;Matrix Biology;2022-06

3. Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration;Journal of Investigative Dermatology;2021-03

4. Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review;Journal of the European Academy of Dermatology and Venereology;2020-07-22

5. Epidermolysis Bullosa and Kindler Syndrome;Harper's Textbook of Pediatric Dermatology;2019-11-20

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