Pages that link to "Q17488812"
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The following pages link to Irwin McLean (Q17488812):
Displaying 50 items.
- Gene-environment interaction in the onset of eczema in infancy: filaggrin loss-of-function mutations enhanced by neonatal cat exposure (Q21090137) (← links)
- Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome (Q24302372) (← links)
- cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes (Q24320203) (← links)
- A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2 (Q24322713) (← links)
- Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy (Q24336364) (← links)
- A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome (Q24538571) (← links)
- A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy (Q24673060) (← links)
- Genetic disorders of palm skin and nail (Q24675896) (← links)
- Keratin disorders: from gene to therapy (Q27011750) (← links)
- Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene (Q28200148) (← links)
- An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome (Q28201373) (← links)
- Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex (Q28242020) (← links)
- Filaggrin in the frontline: role in skin barrier function and disease (Q28242202) (← links)
- Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations (Q28249806) (← links)
- The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study (Q28271837) (← links)
- Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis (Q28287606) (← links)
- Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis (Q28303063) (← links)
- Filaggrin null mutations are associated with increased asthma severity in children and young adults (Q28303991) (← links)
- Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms (Q28385664) (← links)
- Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects (Q28511427) (← links)
- A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays (Q28534305) (← links)
- Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. (Q29871431) (← links)
- Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. (Q30351899) (← links)
- The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases. (Q30366056) (← links)
- Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR (Q30415389) (← links)
- Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort. (Q33459162) (← links)
- A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. (Q33858072) (← links)
- Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis (Q33877517) (← links)
- Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. (Q33887353) (← links)
- Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. (Q33903373) (← links)
- A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. (Q33932522) (← links)
- Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). (Q33958324) (← links)
- Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (Q34117640) (← links)
- Filaggrin mutations associated with skin and allergic diseases. (Q34223419) (← links)
- Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. (Q34298513) (← links)
- Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1 (Q34389082) (← links)
- Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. (Q34422733) (← links)
- Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. (Q34474736) (← links)
- Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. (Q34483841) (← links)
- Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. (Q34489270) (← links)
- Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations (Q34571051) (← links)
- Generation and characterisation of keratin 7 (K7) knockout mice (Q34760491) (← links)
- Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. (Q34837055) (← links)
- The molecular genetics of the genodermatoses: progress to date and future directions. (Q35048159) (← links)
- Follow up of patients with ocular scarring secondary to LOC syndrome treated by amniotic membrane transplantation (Q35593464) (← links)
- Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect (Q35609038) (← links)
- One remarkable molecule: filaggrin. (Q36043328) (← links)
- Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin (Q36043453) (← links)
- Old King coal - molecular mechanisms underlying an ancient treatment for atopic eczema (Q36580486) (← links)
- Novel molecular therapies for heritable skin disorders (Q36610899) (← links)