Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling-Reference-Cited by-同舟云学术

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Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling

Published:2013-12 Issue:12 Volume:133 Page:2805-2808
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Pöhler Elizabeth,Zamiri Mozheh,Harkins Catriona P.,Salas-Alanis Julio C.,Perkins William,Smith Frances J.D.,Irwin McLean W.H.,Brown Sara J.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. Keratosis punctate palmaris et plantaris and adenocarcinoma of the colon;Bennion;J Am Acad Dermatol,1984

2. Regulation of EGFR endocytic trafficking by rab proteins;Ceresa;Histol Histopathol,2006

3. Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31;Gao;Br J Dermatol,2005

4. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer;Giehl;Am J Hum Genet,2012

5. Identification of a locus for type 1 punctate palmoplantar keratoderma on chromosome 15q22-q24;Martinez-Mir;J Med Genet,2003

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1. Inherited Disorders of Cornification;Rook's Textbook of Dermatology;2024-03-19

2. Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature;Orphanet Journal of Rare Diseases;2023-09-13

3. Punctate Palmoplantar Keratoderma: A Case Report;Cureus;2023-01-14

4. Oligomer-to-monomer transition underlies the chaperone function of AAGAB in AP1/AP2 assembly;Proceedings of the National Academy of Sciences;2023-01-04

5. The adaptor protein chaperone AAGAB stabilizes AP-4 complex subunits;Molecular Biology of the Cell;2022-10-01

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