Thomas Jefferson University

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McGrath, John
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Concept Male
Academic Article Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
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 Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.
Academic Article Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.
Academic Article Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
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 Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.
Academic Article Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.
Academic Article Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.
Academic Article Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
Academic Article Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
Academic Article Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.
Academic Article Neonatal diagnosis of Kindler syndrome.
Academic Article Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus.
Academic Article Bone metabolism in children with epidermolysis bullosa.
Academic Article Associations between early development and outcome in schizophrenia--A 35-year follow-up of the Northern Finland 1966 Birth Cohort.
Academic Article Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Academic Article Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
Academic Article Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Academic Article Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
Academic Article Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.
Academic Article Maternal age and paternal age are associated with distinct childhood behavioural outcomes in a general population birth cohort.
Academic Article Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
Academic Article Advancing parental age and autism: multifactorial pathways.
Academic Article The association between general psychological distress and delusional-like experiences: a large population-based study.
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 Autism risk across generations: a population-based study of advancing grandpaternal and paternal age.
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 Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.
Academic Article [2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families].
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 The association between neonatal vitamin D status and risk of schizophrenia.
Academic Article Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis.
Academic Article A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.
Academic Article Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis.
Academic Article Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa.
Academic Article Profilaggrin, dry skin, and atopic dermatitis risk: size matters.
Academic Article Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling.
Academic Article Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa.
Academic Article Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Academic Article Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.
Academic Article Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood.
Academic Article Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.
Academic Article lillies: An R package for the estimation of excess Life Years Lost among patients with a given disease or condition.
Academic Article Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
Academic Article Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas.
Academic Article Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
Academic Article Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
Academic Article Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.
Academic Article Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.
Academic Article Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.
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 Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
Academic Article Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.
Academic Article Caveolin-1 Controls Hyperresponsiveness to Mechanical Stimuli and Fibrogenesis-Associated RUNX2 Activation?in Keloid Fibroblasts.
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 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.
Academic Article Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa.
Academic Article Images in clinical medicine. Tinea.
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 Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome.
Academic Article Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
Academic Article Cohort Profile Update: The Mater-University of Queensland Study of Pregnancy (MUSP).
Academic Article The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.
Academic Article Psychotic Experiences in the General Population: A Cross-National Analysis Based on 31,261 Respondents From 18 Countries.
Academic Article An essential role for the Zn2+ transporter ZIP7 in B cell development.
Academic Article A comprehensive analysis of mortality-related health metrics associated with mental disorders: a nationwide, register-based cohort study.
Academic Article Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Academic Article Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
Academic Article Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Academic Article Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Academic Article Acute recovery of patellar tendon from heat-induced shrinkage and its inhibition by cross-linking.
Academic Article Revertant mosaicism in Kindler syndrome.
Academic Article Cause-specific life years lost among persons diagnosed with schizophrenia: Is it getting better or worse?
Academic Article Association of Childhood Exposure to Nitrogen Dioxide and Polygenic Risk Score for Schizophrenia With the Risk of Developing Schizophrenia.
Academic Article The antecedents of schizophrenia: a review of birth cohort studies.
Academic Article Novel TGM5 mutations in acral peeling skin syndrome.
Academic Article Intra-familial variability of ectodermal defects associated with WNT10A mutations.
Academic Article The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.
Academic Article Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.
Academic Article Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa.
Academic Article Androgen-regulated transcription of ESRP2 drives alternative splicing patterns in prostate cancer.
Academic Article Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa.
Academic Article A de novo COL17A1 splice-site mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa.
Academic Article Mortality in individuals with disruptive behavior disorders diagnosed by specialist services - A nationwide cohort study.
Academic Article WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.
Academic Article Kindler syndrome: a new mutation and new diagnostic possibilities.
Academic Article A comprehensive assessment of parental age and psychiatric disorders.
Academic Article Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial.
Academic Article Systematised naevus sebaceus resulting from post-zygotic mutation in HRAS.
Academic Article Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration.
Academic Article Common mental disorders and recent physical activity status: findings from a National Community Survey.
Academic Article Transcriptomic Analysis of Blaschko-Linear Psoriasis Reveals Shared and Distinct Features with Psoriasis Vulgaris.
Academic Article The associations between psychotic experiences and substance use and substance use disorders: findings from the World Health Organization World Mental Health surveys.
Academic Article The association between delusional-like experiences and suicidal thoughts and behaviour.
Academic Article The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.
Academic Article Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies.
Academic Article EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis.
Academic Article Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Academic Article Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).
Academic Article Growth in young adults who screen positive for non-affective psychosis: birth cohort study.
Academic Article Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
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 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 Th2 response drives itch in dystrophic epidermolysis bullosa pruriginosa: A case-control study.
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 Shared Genetic Risk Variants in Both Male and Female Frontal Fibrosing Alopecia.
Academic Article Profibrotic Subsets of SPP1+ Macrophages and POSTN+ Fibroblasts Contribute to Fibrotic Scarring in Acne Keloidalis.
Academic Article Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosa.
Academic Article Induced pluripotent stem cell (iPSC) line MLi005-A derived from a patient with dominant dystrophic epidermolysis bullosa (DDEB).
Academic Article Improving the understanding of the link between cognition and functional capacity in schizophrenia and bipolar disorder.
Academic Article Late diagnosis of ectodermal dysplasia syndrome.
Academic Article A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Academic Article Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder.
Academic Article Preoperative liver shrinking diet for bariatric surgery may impact wound healing: a randomized controlled trial.
Academic Article Familial primary localized cutaneous amyloidosis in Brazil.
Academic Article Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies.
Academic Article A comprehensive analysis of age of onset and cumulative incidence of mental disorders: A Danish register study.
Academic Article The association between physical health and delusional-like experiences: a general population study.
Academic Article Service use for mental health problems in people with delusional-like experiences: a nationwide population based survey.
Academic Article Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.
Academic Article Molecular basis of lipoid proteinosis in two Indian siblings.
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