Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
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Autosomal recessive cutis laxa syndrome revisitedMissense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesCopper signaling in the mammalian nervous system: synaptic effectsThe copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expressionATP7A-related copper transport diseases-emerging concepts and future trendsInherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment.Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.Increased frequency of congenital heart defects in Menkes diseaseIn utero copper treatment for Menkes disease associated with a severe ATP7A mutationCervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuseWhole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.Copper deficiency alters the neurochemical profile of developing rat brain.A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes diseaseAn overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.Augmented cerebellar lactate in copper deficient rat pups originates from both blood and cerebellum.A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotypeTwenty-five novel mutations including duplications in the ATP7A gene.Amino acid polymorphisms in strictly conserved domains of a P-type ATPase HMA5 are involved in the mechanism of copper tolerance variation in Arabidopsis.
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Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 11 May 2007
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Differences in ATP7A gene expr ...... isease/occipital horn syndrome
@en
Differences in ATP7A gene expr ...... sease/occipital horn syndrome.
@nl
type
label
Differences in ATP7A gene expr ...... isease/occipital horn syndrome
@en
Differences in ATP7A gene expr ...... sease/occipital horn syndrome.
@nl
prefLabel
Differences in ATP7A gene expr ...... isease/occipital horn syndrome
@en
Differences in ATP7A gene expr ...... sease/occipital horn syndrome.
@nl
P2093
P2860
P356
P1476
Differences in ATP7A gene expr ...... isease/occipital horn syndrome
@en
P2093
Alexander Bassuk
Courtney S Holmes
David S Goldstein
Jingrong Tang
Sarah C Godwin
Stephen G Kaler
P2860
P304
P356
10.1136/JMG.2007.050013
P407
P577
2007-05-11T00:00:00Z