Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.

[1]  T. Strom,et al.  Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. , 2012, American journal of human genetics.

[2]  G. Barton,et al.  Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma , 2012, Nature Genetics.

[3]  C. Has,et al.  Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity. , 2011, Human molecular genetics.

[4]  M. Boerries,et al.  Comparative quantitation of proteome alterations induced by aging or immortalization in primary human fibroblasts and keratinocytes for clinical applications. , 2010, Molecular bioSystems.

[5]  M. Braun‐Falco Hereditary Palmoplantar Keratodermas , 2009, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

[6]  S. Simon,et al.  Endocytic trafficking of activated EGFR is AP-2 dependent and occurs through preformed clathrin spots , 2009, Journal of Cell Science.

[7]  M. Robinson Adaptable adaptors for coated vesicles. , 2004, Trends in cell biology.

[8]  S. Emmert,et al.  A new family with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. , 2003, Journal of the American Academy of Dermatology.

[9]  H. Haenssle,et al.  47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. , 2003, European journal of dermatology : EJD.

[10]  A. Kimyai-Asadi,et al.  The molecular basis of hereditary palmoplantar keratodermas. , 2002, Journal of the American Academy of Dermatology.

[11]  J. Bonifacino,et al.  Adaptor-related proteins. , 2001, Current opinion in cell biology.

[12]  M. Robinson,et al.  γ-Synergin: An Eh Domain–Containing Protein That Interacts with γ-Adaptin , 1999 .

[13]  D. Kelsell,et al.  The palmoplantar keratodermas: much more than palms and soles. , 1999, Molecular medicine today.

[14]  A. König,et al.  Transforming growth factor-beta stimulates collagen VII expression by cutaneous cells in vitro , 1992, The Journal of cell biology.