about
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeThe cell adhesion molecule nectin-1 is critical for normal enamel formation in miceEndoplasmic reticulum stress in amelogenesis imperfecta and phenotypic rescue using 4-phenylbutyrate.Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfectaDefects in multiple complexes of the respiratory chain are present in ageing human colonic crypts.Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.The diagnosis of mitochondrial muscle disease.Is the 32-kDa fragment the functional enamelin unit in all species?Novel mutations in GJA1 cause oculodentodigital syndromeHereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.Entry mechanisms of herpes simplex virus 1 into murine epidermis: involvement of nectin-1 and herpesvirus entry mediator as cellular receptors.Phenotype-genotype correlations in mouse models of amelogenesis imperfecta caused by Amelx and Enam mutations.Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy.Aged human skin accumulates mast cells with altered functionality which localise to macrophage and VIP nerve fibresDifferences in the accumulation of mitochondrial defects with age in mice and humans
P50
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P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Martin John Barron
@ast
Martin John Barron
@en
Martin John Barron
@es
Martin John Barron
@nl
Martin John Barron
@sl
type
label
Martin John Barron
@ast
Martin John Barron
@en
Martin John Barron
@es
Martin John Barron
@nl
Martin John Barron
@sl
prefLabel
Martin John Barron
@ast
Martin John Barron
@en
Martin John Barron
@es
Martin John Barron
@nl
Martin John Barron
@sl
P1053
E-9649-2015
P106
P1153
7101884257
P21
P31
P3829
P496
0000-0002-2047-3513