Inflammatory Skin and Bowel Disease Linked toADAM17Deletion

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

(2010) Atteeq Ur Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Cardiac Desmosome and Arrhythmogenic Cardiomyopathies

(2010) Mario Delmar et al.   CIRCULATION RESEARCH

The “A Disintegrin And Metalloproteases” ADAM10 and ADAM17: Novel drug targets with therapeutic potential?

(2010) Paul Saftig et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

(2010) Kimia Kahrizi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Critical role of the disintegrin metalloprotease ADAM17 for intestinal inflammation and regeneration in mice

(2010) Athena Chalaris et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Multiple common variants for celiac disease influencing immune gene expression

(2010) Patrick C A Dubois et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

(2009) Ludovica Volpi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ADAM17 as a Therapeutic Target in Multiple Diseases

(2009) Joaquin Arribas et al.   CURRENT PHARMACEUTICAL DESIGN

ADAMs 10 and 17 Represent Differentially Regulated Components of a General Shedding Machinery for Membrane Proteins Such as Transforming Growth Factor α, L-Selectin, and Tumor Necrosis Factor α

(2009) Sylvain M. Le Gall et al.   MOLECULAR BIOLOGY OF THE CELL

EGFR and ADAMs Cooperate to Regulate Shedding and Endocytic Trafficking of the Desmosomal Cadherin Desmoglein 2

(2008) Jodi L. Klessner et al.   MOLECULAR BIOLOGY OF THE CELL

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

(2008) Maximilian G. Posch et al.   MOLECULAR GENETICS AND METABOLISM

A Genome-Wide Association Study of Psoriasis and Psoriatic Arthritis Identifies New Disease Loci

(2008) Ying Liu et al.   PLoS Genetics