Associated Papers
Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.
Hasegawa A et al.
The Journal of Dermatology, 2021
Clathrin Adaptor Complex-interacting Protein Irc6 Functions through the Conserved C-Terminal Domain.
Zhou H et al.
Scientific Reports, 2019
Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.
Dinani N et al.
Clinical and Experimental Dermatology, 2017
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
Giehl KA et al.
Acta Dermato-venereologica, 2016
Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate.
Nomura T et al.
Acta Dermato-venereologica, 2015
Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma.
Furniss M et al.
The Journal of Investigative Dermatology, 2014
Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling.
Pöhler E et al.
The Journal of Investigative Dermatology, 2013
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.
Cui H et al.
The Journal of Investigative Dermatology, 2013
Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.
Kiritsi D et al.
The Journal of Investigative Dermatology, 2013
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E et al.
Nature Genetics, 2012
23064416 (PubMed )
Supplement: NIHMS50035-supplement-1.pdf
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