A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle

Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome

(2020) I. M. Häfliger et al.   ANIMAL GENETICS

Epidermolysis bullosa: a 2020 perspective

(2020) E. Pope   BRITISH JOURNAL OF DERMATOLOGY

De novo assembly of the cattle reference genome with single-molecule sequencing

(2020) Benjamin D Rosen et al.   GigaScience

A novel ABCA12 frameshift mutation segregates with ichthyosis fetalis in a Polled Hereford calf

(2020) Katie L. M. Eager et al.   ANIMAL GENETICS

An updated review of the sebaceous gland and its role in health and diseases Part 1: Embryology, evolution, structure, and function of sebaceous glands

(2020) Gelan Shamloul et al.   Dermatologic Therapy

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

(2019) Tim W Rattay et al.   BRAIN

An ABCA 12 missense variant in a Shorthorn calf with ichthyosis fetalis

(2019) S. A. Woolley et al.   ANIMAL GENETICS

Novel biallelic FA2H mutations in a Japanese boy with fatty acid hydroxylase-associated neurodegeneration

(2019) Masahiro Kawaguchi et al.   BRAIN & DEVELOPMENT

OUP accepted manuscript

(2018)   BIOINFORMATICS

1000 Bull Genomes Project to Map Simple and Complex Genetic Traits in Cattle: Applications and Outcomes

(2018) Ben J. Hayes et al.   Annual Review of Animal Biosciences

Ichthyosis fetalis in a cross-bred lamb

(2017) Antonio Carlos Lopes Câmara et al.   VETERINARY DERMATOLOGY

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

(2017) Anina Bauer et al.   PLoS Genetics

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

(2017) Margret L. Casal et al.   PLoS One

Genetic testing in veterinary dermatology

(2016) Tosso Leeb et al.   VETERINARY DERMATOLOGY

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis

(2015) Julia Metzger et al.   PLoS One

Synthesis of 1,3-Disubstituted Hexahydropyrimidine Derivatives from Dibenzoylmethane, Acetylacetone, Ethyl Acetoacetate: One-Pot FeCl3-Catalyzed Mannich Reaction

(2014) Abdullah Saleh et al.   SYNTHETIC COMMUNICATIONS

Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

(2013) Linn Fagerberg et al.   MOLECULAR & CELLULAR PROTEOMICS

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction

(2012) Jian Ye et al.   BMC BIOINFORMATICS

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

(2012) Anaïs Grall et al.   NATURE GENETICS

Normal Fur Development and Sebum Production Depends on Fatty Acid 2-Hydroxylase Expression in Sebaceous Glands

(2011) Helena Maier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

(2010) Michael C. Kruer et al.   ANNALS OF NEUROLOGY

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

(2010) Katherine J. Dick et al.   HUMAN MUTATION

Fatty Acid 2-Hydroxylase Mediates Diffusional Mobility of Raft-associated Lipids, GLUT4 Level, and Lipogenesis in 3T3-L1 Adipocytes

(2010) Lin Guo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T Schwannoma cells

(2009) Nathan L. Alderson et al.   JOURNAL OF LIPID RESEARCH

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

(2008) Simon Edvardson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Highly effective SNP-based association mapping and management of recessive defects in livestock

(2008) Carole Charlier et al.   NATURE GENETICS

Principles of bioactive lipid signalling: lessons from sphingolipids

(2008) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY