Hypohidrotic ectodermal dysplasia: clinical and molecular review

NEMO Links Nuclear Factor-κB to Human Diseases

(2017) Gunter Maubach et al.   TRENDS IN MOLECULAR MEDICINE

Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

(2016) Sigrun Wohlfart et al.   JOURNAL OF HUMAN GENETICS

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature

(2015) S.X. Huang et al.   GENETICS AND MOLECULAR RESEARCH

Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia

(2015) Glustein Pozo-Molina et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

EDA-ID and IP, Two Faces of the Same Coin: How the SameIKBKG/NEMOMutation Affecting the NF-κB Pathway Can Cause Immunodeficiency and/or Inflammation

(2015) Francesca Fusco et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Molecular basis of hypohidrotic ectodermal dysplasia: an update

(2015) Wieslaw H. Trzeciak et al.   JOURNAL OF APPLIED GENETICS

Ectodysplasin/NF-κB Promotes Mammary Cell Fate via Wnt/β-catenin Pathway

(2015) Maria Voutilainen et al.   PLoS Genetics

Ectodysplasin A (EDA) – EDA receptor signalling and its pharmacological modulation

(2014) Christine Kowalczyk-Quintas et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Insight intoIKBKG/NEMOLocus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease

(2013) Matilde Immacolata Conte et al.   HUMAN MUTATION

The ectodysplasin pathway: from diseases to adaptations

(2013) Alexa Sadier et al.   TRENDS IN GENETICS

Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development

(2012) Sylvie Lefebvre et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Recombinant EDA or Sonic Hedgehog rescue the branching defect in Ectodysplasin A pathway mutant salivary glands in vitro

(2010) K.L. Wells et al.   DEVELOPMENTAL DYNAMICS

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

(2010) Céline Cluzeau et al.   HUMAN MUTATION

Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia

(2009) Elizabeth A. Mauldin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular aspects of hypohidrotic ectodermal dysplasia

(2009) Marja L. Mikkola   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ectodermal dysplasias: Clinical and molecular review

(2009) Átila F. Visinoni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2008 International Conference on Ectodermal Dysplasias Classification: Conference report

(2009) Carlos F. Salinas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TNF superfamily in skin appendage development

(2008) Marja L. Mikkola   CYTOKINE & GROWTH FACTOR REVIEWS

Enhanced ectodysplasin-A receptor (EDAR) signaling alters multiple fiber characteristics to produce the East Asian hair form

(2008) Chunyan Mou et al.   HUMAN MUTATION

Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations

(2008) Francesca Fusco et al.   HUMAN MUTATION