A de novo variant in the ASPRV1 gene in a dog with ichthyosis

Inherited ichthyosis: Non-syndromic forms

(2016) Takuya Takeichi et al.   JOURNAL OF DERMATOLOGY

Autosomal recessive congenital ichthyosis due toPNPLA1mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy

(2016) Chie Tamamoto-Mochizuki et al.   VETERINARY DERMATOLOGY

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

(2015) Søren Besenbacher et al.   Nature Communications

Monogenic Human Skin Disorders

(2014) Johannes R. Lemke et al.   DERMATOLOGY

DoGSD: the dog and wolf genome SNP database

(2014) Bing Bai et al.   NUCLEIC ACIDS RESEARCH

Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency

(2014) E. A. Mauldin et al.   VETERINARY PATHOLOGY

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

(2012) Aileen Sandilands et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

(2012) Anaïs Grall et al.   NATURE GENETICS

Canine Ichthyosis and Related Disorders of Cornification

(2012) Elizabeth A. Mauldin   VETERINARY CLINICS OF NORTH AMERICA-SMALL ANIMAL PRACTICE

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing

(2011) Takeshi Matsui et al.   EMBO Molecular Medicine

Caspase-14 Is Required for Filaggrin Degradation to Natural Moisturizing Factors in the Skin

(2011) Esther Hoste et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Missing C-terminal filaggrin expression, NFkappaB activation and hyperproliferation identify the dog as a putative model to study epidermal dysfunction in atopic dermatitis

(2010) Ludovic Chervet et al.   EXPERIMENTAL DERMATOLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Impaired Skin Regeneration and Remodeling after Cutaneous Injury and Chemically Induced Hyperplasia in Taps-Transgenic Mice

(2010) Maike Hildenbrand et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009

(2010) Vinzenz Oji et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Transglutaminase 1-deficient recessive lamellar ichthyosis associated with a LINE-1 insertion in Jack Russell terrier dogs

(2009) K.M. Credille et al.   BRITISH JOURNAL OF DERMATOLOGY