PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
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Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humansRecent advances in understanding ichthyosis pathogenesisIchthyosis with confetti: clinics, molecular genetics and managementIdentification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosisDistinguishing ichthyoses by protein profilingA mutation in the FAM83G gene in dogs with hereditary footpad hyperkeratosis (HFH)Neutral lipid stores and lipase PNPLA5 contribute to autophagosome biogenesis.From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs.Sporadic naturally occurring melanoma in dogs as a preclinical model for human melanomaA monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humansInsights into morphology and disease from the dog genome project.A nonsense mutation in PLD4 is associated with a zinc deficiency-like syndrome in Fleckvieh cattle.Care of the newborn with ichthyosis.The effect of two endogenous retinoids on the mRNA expression profile in human primary keratinocytes, focusing on genes causing autosomal recessive congenital ichthyosisFranklin H. Epstein Lecture. Both ends of the leash--the human links to good dogs with bad genes.Aberrant gene expression in dogs with portosystemic shunts.Genome-wide analysis in German shepherd dogs reveals association of a locus on CFA 27 with atopic dermatitis.A mutation in the SUV39H2 gene in Labrador Retrievers with hereditary nasal parakeratosis (HNPK) provides insights into the epigenetics of keratinocyte differentiationAn Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan TerriersUnderstanding the molecular mechanisms of human microtia via a pig model of HOXA1 syndromeAutosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis.The role of group IIF-secreted phospholipase A2 in epidermal homeostasis and hyperplasiaA Point Mutation in a lincRNA Upstream of GDNF Is Associated to a Canine Insensitivity to Pain: A Spontaneous Model for Human Sensory NeuropathiesA Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.A de novo variant in the ASPRV1 gene in a dog with ichthyosis.Distinct roles for alpha-beta hydrolase domain 5 (ABHD5/CGI-58) and adipose triglyceride lipase (ATGL/PNPLA2) in lipid metabolism and signaling.Inherited ichthyoses/generalized Mendelian disorders of cornification.Disruption of the Sjögren-Larsson Syndrome Gene Aldh3a2 in Mice Increases Keratinocyte Growth and Retards Skin Barrier RecoveryClinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in Old English Sheepdogs.Expression and Function of Group IIE Phospholipase A2 in Mouse Skin.Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.Systemic retinoids in the management of ichthyoses and related skin types.PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides.PNPLA1 has a crucial role in skin barrier function by directing acylceramide biosynthesis.Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Inferring causality and functional significance of human coding DNA variants.Canine ichthyosis and related disorders of cornification.
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P2860
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@ast
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@en
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@en-gb
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@nl
type
label
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@ast
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@en
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@en-gb
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@nl
prefLabel
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@ast
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@en
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@en-gb
PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@nl
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PNPLA1 mutations cause autosom ...... lden retriever dogs and humans
@en
P2093
Anaïs Grall
Anne Thomas
Catherine André
Christophe Hitte
Céline Derbois
Didier Pin
Emmanuel Bensignor
Emmanuelle Bourrat
Eric Guaguère
Franz P W Radner
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P2888
P3181
P356
10.1038/NG.1056
P407
P577
2012-02-01T00:00:00Z
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P6179
1016232870