Mutation inKANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations

(2013) A. Vahlquist et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Nuclear hormone receptor functions in keratinocyte and melanocyte homeostasis, epidermal carcinogenesis and melanomagenesis

(2013) Stephen Hyter et al.   FEBS LETTERS

Overexpression of steroid receptor coactivator-3 in bone cancers: An in vivo immunohistochemical study with tissue microarray

(2013) Fei Luo et al.   PATHOLOGY RESEARCH AND PRACTICE

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Desmosomal genodermatoses

(2011) G. Petrof et al.   BRITISH JOURNAL OF DERMATOLOGY

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity

(2011) Manuela Pigors et al.   HUMAN MOLECULAR GENETICS

Congenital hair loss disorders: Rare, but not too rare

(2011) Yutaka SHIMOMURA   JOURNAL OF DERMATOLOGY

Steroid receptor coactivators 1, 2, and 3: Critical regulators of nuclear receptor activity and steroid receptor modulator (SRM)-based cancer therapy

(2011) Amber B. Johnson et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Vitamin D and the skin: Physiology and pathophysiology

(2011) Daniel D. Bikle   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

Modulation of the Vitamin D3 Response by Cancer-Associated Mutant p53

(2010) Perry Stambolsky et al.   CANCER CELL

Steroid Receptor Coactivator (SRC) Family: Masters of Systems Biology

(2010) Brian York et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

(2010) Rita M. Cabral et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The 1,25-dihydroxyvitamin D3-independent actions of the vitamin D receptor in skin

(2010) Diane R. Dowd et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Differential regulation of epidermal function by VDR coactivators

(2010) D.D. Bikle et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Endocrine controls of keratin expression

(2009) Yuval Ramot et al.   BIOESSAYS

Kank proteins: structure, functions and diseases

(2009) N. Kakinuma et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities

(2009) My G. Mahoney et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

(2008) Vered Molho-Pessach et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

(2008) M.A. Simpson et al.   CARDIOLOGY

Vitamin D Receptor and Coactivators SRC2 and 3 Regulate Epidermis-Specific Sphingolipid Production and Permeability Barrier Formation

(2008) Yuko Oda et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY