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Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndromeExtracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactionsMutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndromeAlopecia universalis associated with a mutation in the human hairless genePhenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutationsOncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosisRecently Identified Forms of Epidermolysis BullosaLysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis BullosaStriate palmoplantar keratoderma resulting from desmoplakin haploinsufficiencyDyskeratosis congenita: new clinical and molecular insights into ribosome functionAn unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndromeGenotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1Rapp-Hodgkin syndrome and the tail of p63A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allelePredominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategyCycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosaLethal acantholytic epidermolysis bullosaE210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosaAltered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosaKindlin-1 controls Wnt and TGF-β availability to regulate cutaneous stem cell proliferationLarge Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFRCell therapy in dermatology.Hereditary diseases of desmosomes.3D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells.WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiationA novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.Searching for candidate genes in the new millennium.Keratinocyte adhesion and the missing link: from Dowling-Meara to Hay-Wells. St John's Hospital Dermatological Society Annual Oration 2000.Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.Prenatal diagnosis of epidermolysis bullosa.
P50
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P50
description
researcher
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wetenschapper
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name
J A McGrath
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J A McGrath
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type
label
J A McGrath
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J A McGrath
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prefLabel
J A McGrath
@en
J A McGrath
@nl
P106
P31
P496
0000-0002-3708-9964