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McGrath, John
One or more keywords matched the following items that are connected to McGrath, John
Item TypeName
Concept Autoimmune Diseases
Concept Bowen's Disease
Concept Celiac Disease
Concept Chronic Disease
Concept Conjunctival Diseases
Concept Connective Tissue Diseases
Concept Corneal Diseases
Concept Disease
Concept Disease Models, Animal
Concept Disease Susceptibility
Concept Diseases in Twins
Concept Eye Diseases
Concept Eyelid Diseases
Concept Fetal Diseases
Concept Gastrointestinal Diseases
Concept Genital Diseases, Male
Concept Graft vs Host Disease
Concept Hair Diseases
Concept Infant, Premature, Diseases
Concept Darier Disease
Concept Kidney Diseases
Concept Laryngeal Diseases
Concept Lung Diseases
Concept Metabolic Diseases
Concept Mouth Diseases
Concept Muscular Diseases
Concept Nail Diseases
Concept Periodontal Diseases
Concept Skin Diseases
Concept Skin Diseases, Vesiculobullous
Concept Skin Diseases, Genetic
Concept Skin Diseases, Metabolic
Concept Tooth Diseases
Concept Urologic Diseases
Concept Vascular Diseases
Concept Skin Diseases, Papulosquamous
Concept Disease Progression
Concept Disease Management
Concept Genetic Predisposition to Disease
Concept Genetic Diseases, Inborn
Concept Rare Diseases
Concept Genetic Diseases, X-Linked
Academic Article Animal models of epidermolysis bullosa: update 2010.
Academic Article Revertant mosaicism in skin: natural gene therapy.
Academic Article Novel molecular therapies for heritable skin disorders.
Academic Article Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012.
Academic Article Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.
Academic Article Diseases of epidermal keratins and their linker proteins.
Academic Article KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Academic Article The filaggrin story: novel insights into skin-barrier function and disease.
Academic Article Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.
Academic Article Transplanted bone marrow-derived circulating PDGFRa+ cells restore type VII collagen in recessive dystrophic epidermolysis bullosa mouse skin graft.
Academic Article Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015.
Academic Article Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.
Academic Article The molecular skin pathology of familial primary localized cutaneous amyloidosis.
Academic Article Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Academic Article Strategies to identify disease genes.
Academic Article Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1.
Academic Article Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability.
Academic Article Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
Academic Article Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
Academic Article Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Academic Article Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
Academic Article An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.
Academic Article Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.
Academic Article Human hair abnormalities resulting from inherited desmosome gene mutations.
Academic Article Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Academic Article Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa.
Academic Article Novel and recurrent FERMT1 gene mutations in Kindler syndrome.
Academic Article Case of Kindler syndrome resulting from mutation in the FERMT1 gene.
Academic Article Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
Academic Article Is adermatoglyphia an additional feature of Kindler Syndrome?
Academic Article Time Series Integrative Analysis of RNA Sequencing?and MicroRNA Expression Data Reveals?Key Biologic Wound Healing Pathways?in?Keloid-Prone Individuals.
Academic Article Psychotic experiences and general medical conditions: a cross-national analysis based on 28 002 respondents from 16 countries in the WHO World Mental Health Surveys.
Academic Article Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne.
Academic Article Cord Blood-Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa.
Academic Article Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa.
Academic Article Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a?Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
Academic Article Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.
Academic Article Cytoplasmic plaque formation in hemidesmosome development is dependent on SoxF transcription factor function.
Academic Article Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis.
Academic Article Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.
Academic Article Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Academic Article Blistering skin diseases: a bridge between dermatopathology and molecular biology.
Academic Article Ichthyosis Prematurity Syndrome: From Fetus to Adulthood.
Academic Article Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa.
Academic Article Sporadic Kindler syndrome with a novel mutation.
Academic Article Prenatal diagnosis of epidermolysis bullosa.
Academic Article Unravelling the genetic basis of contact allergy.
Academic Article Metabolic perturbations in fibrosis disease.
Academic Article Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Academic Article Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.
Academic Article Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.
Academic Article Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica.
Academic Article lillies: An R package for the estimation of excess Life Years Lost among patients with a given disease or condition.
Academic Article Filaggrin and the great epidermal barrier grief.
Academic Article Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
Academic Article The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review.
Academic Article Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.
Academic Article Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.
Academic Article Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.
Academic Article Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
Academic Article Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.
Academic Article Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.
Academic Article Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.
Academic Article Kindlin-1 controls Wnt and TGF-? availability to regulate cutaneous stem cell proliferation.
Academic Article Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.
Academic Article Montagna Symposium 2017-Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment.
Academic Article Inherited disorders of desmosomes.
Academic Article Five new homozygous mutations in the KIND1 gene in Kindler syndrome.
Academic Article Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis.
Academic Article New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis.
Academic Article Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa?Simplex.
Academic Article Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.
Academic Article Questioning the Clinical Utility of Exome Sequencing in Developing Countries.
Academic Article Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.
Academic Article Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome.
Academic Article Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.
Academic Article Single-cell transcriptomics in human skin research: available technologies, technical considerations and disease applications.
Academic Article Frontal fibrosing alopecia should be renamed to lichen planopilaris of Kossard.
Academic Article Nail lichen planus.
Academic Article An essential role for the Zn2+ transporter ZIP7 in B cell development.
Academic Article Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Academic Article Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder.
Academic Article Genetic diseases of junctions.
Academic Article Corrigendum to "Metabolic perturbations in fibrosis disease" [Int. J. Biochem. Cell Biol. 139 (2021) 106073].
Academic Article Mapping genomic loci implicates genes and synaptic biology in schizophrenia.
Academic Article Revertant mosaicism in Kindler syndrome.
Academic Article Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.
Academic Article What is Kindler syndrome?
Academic Article Kindlin-1 Regulates Keratinocyte Electrotaxis.
Academic Article Novel TGM5 mutations in acral peeling skin syndrome.
Academic Article Intra-familial variability of ectodermal defects associated with WNT10A mutations.
Academic Article Sch?pf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
Academic Article Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome.
Academic Article A Th2 cytokine interleukin-31 signature in a case of sporadic lichen amyloidosis.
Academic Article Kindler syndrome: a new mutation and new diagnostic possibilities.
Academic Article Kindlin-1 Regulates Epidermal Growth Factor?Receptor Signaling.
Academic Article A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.
Academic Article The Past and Future of Rare Skin Disease Research and Therapy.
Academic Article Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model.
Academic Article The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Academic Article The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin?Diseases.
Academic Article Diagnosis by numbers: defining skin disease pathogenesis through collated gene signatures.
Academic Article Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Academic Article Cell therapy in dermatology.
Academic Article Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: a systematic analysis for the Global Burden of Disease Study 2010.
Academic Article Systematic review of the clinical characteristics and natural history of solar urticaria.
Academic Article Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010.
Academic Article A comparative risk assessment of burden of disease and injury attributable to 67 risk factors and risk factor clusters in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010.
Academic Article Disability-adjusted life years (DALYs) for 291 diseases and injuries in 21 regions, 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010.
Academic Article Detection of SNP-SNP interactions in trios of parents with schizophrenic children.
Academic Article Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype.
Academic Article Topical gene editing therapeutics using lipid nanoparticles: 'gene creams' for genetic skin diseases?
Academic Article Sch?pf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.
Academic Article A review of genotrichoses and hair pathology associated with inherited skin diseases.
Academic Article Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis.
Academic Article Genome-wide meta-analysis implicates variation affecting mast cell biology in urticaria.
Academic Article Investigational Treatments for Epidermolysis Bullosa.
Academic Article Next-generation diagnostics for genodermatoses.
Academic Article Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
Academic Article Familial primary localized cutaneous amyloidosis in Brazil.
Academic Article Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.
Academic Article Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia.
Academic Article Transethnic associations among immune-mediated diseases and single-nucleotide polymorphisms of the aryl hydrocarbon response gene ARNT and the PTPN22 immune regulatory gene.
Academic Article Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies.
Academic Article The association between physical health and delusional-like experiences: a general population study.
Academic Article Gluten-sensitive enteropathy in recessive dystrophic epidermolysis bullosa.
Academic Article Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Academic Article A prenatal skin atlas reveals immune regulation of human skin morphogenesis.
Academic Article Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.
Academic Article A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.
Academic Article Rare inherited skin diseases and the Genomics England 100 000 Genome Project.
Academic Article A retrospective analysis of tissue-fixed immunoreactants from skin biopsies maintained in Michel's medium.
Academic Article PADI3, hair disorders and genomic investigation.
Academic Article Immunogold electron microscopy using skin in Michel's medium intended for immunofluorescence analysis.
Academic Article Searching for candidate genes in the new millennium.
Academic Article A disease-associated glycine substitution in BP180 (type XVII collagen) leads to a local destabilization of the major collagen triple helix.
Academic Article Further evidence for genotype-phenotype disparity in Griscelli syndrome.
Academic Article Prenatal diagnosis of Herlitz junctional epidermolysis bullosa in nonidentical twins.
Academic Article Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma).
Academic Article Altered expression of L-arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa.
Academic Article Recent advances in the molecular basis of inherited skin diseases.
Academic Article An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene.
Academic Article Gene mutations, great expectations.
Academic Article Molecular basis of blistering skin diseases.
Academic Article PLACK syndrome: the penny dropped.
Academic Article Preimplantation genetic diagnosis of severe inherited skin diseases.
Academic Article Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.
Academic Article MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans.
Academic Article A novel genodermatosis caused by mutations in plakophilin 1, a structural component of desmosomes.
Academic Article Frequency of the CCR5 gene 32-basepair deletion in Hispanic Mexicans.
Academic Article Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction.
Academic Article Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome.
Academic Article Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.
Academic Article Revertant mosaicism in the skin.
Academic Article Molecular abnormalities of the desmosomal protein desmoplakin in human disease.
Academic Article Psoriasis bullosa acquisita.
Academic Article First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.
Academic Article A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.
Academic Article Unusual molecular findings in Kindler syndrome.
Academic Article Synergistic multiple early therapy (SMET) for inflammatory diseases with pathogenic autoinflammatory feedback circuits.
Academic Article Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1.
Academic Article Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
Academic Article Molecular basis and inheritance patterns of amyloidosis cutis dyschromica.
Academic Article Globalization of DNA-based prenatal diagnosis for recessive dystrophic epidermolysis bullosa.
Academic Article Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma.
Academic Article Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations.
Academic Article Prenatal diagnosis for inherited skin diseases.
Academic Article Extracellular matrix protein 1 autoantibodies in male genital lichen sclerosus.
Academic Article Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation.
Academic Article Desmosomal genodermatoses.
Academic Article Target proteins in inherited and acquired blistering skin disorders.
Academic Article Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa.
Academic Article Incontinentia pigmenti in a father and daughter.
Academic Article Defining target antigens in linear IgA disease using skin from subjects with inherited epidermolysis bullosa as a substrate for indirect immunofluorescence microscopy.
Academic Article Hereditary diseases of desmosomes.
Academic Article New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis.
Academic Article Prenatal diagnosis for severe inherited skin disorders: 25 years' experience.
Academic Article Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder.
Academic Article Oral and gastrointestinal manifestations of epidermolysis bullosa.
Academic Article Expression and glycosylation of MUC1 in epidermolysis bullosa-associated and sporadic cutaneous squamous cell carcinomas.
Academic Article Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'.
Academic Article Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa.
Academic Article Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa.
Academic Article Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report.
Academic Article Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts.
Academic Article A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.
Academic Article A germline mutation in the platelet-derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis.
Academic Article Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome.
Academic Article Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome.
Academic Article Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.
Academic Article Kindler syndrome: a focal adhesion genodermatosis.
Academic Article Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.
Academic Article Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene.
Academic Article Syndromic inherited poikiloderma due to a de novo mutation in FAM111B.
Academic Article An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene.
Academic Article Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.
Academic Article The role of kindlins in cell biology and relevance to human disease.
Academic Article Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: implications for prenatal diagnosis in one family.
Academic Article Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
Academic Article Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.
Academic Article Epistasis of ERAP1 With 4 Major Histocompatibility Complex Class I Alleles in Frontal Fibrosing Alopecia: A Genome-Wide Association Study Meta-Analysis.
Academic Article Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
Academic Article Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.
Academic Article Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.
Academic Article Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.
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