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A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease lociFrequent mutation of BAP1 in metastasizing uveal melanomasHistone deacetylase inhibitors induce growth arrest and differentiation in uveal melanomaPsoriasis genetics: breaking the barrierAssociation analyses identify six new psoriasis susceptibility loci in the Chinese populationCell cycle-dependent colocalization of BARD1 and BRCA1 proteins in discrete nuclear domainsGenome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathwaysOncogenic mutations in GNAQ occur early in uveal melanomaPsoriasis pathophysiology: current concepts of pathogenesisStructure and characterization of the human tissue inhibitor of metalloproteinases-2 geneA putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasisHigh-density genetic map of the BRCA1 region of chromosome 17q12-q21The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repressionLoss of heterozygosity of chromosome 3 detected with single nucleotide polymorphisms is superior to monosomy 3 for predicting metastasis in uveal melanomaPsoriasis patients are enriched for genetic variants that protect against HIV-1 diseaseA transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.Familial bone marrow monosomy 7. Evidence that the predisposing locus is not on the long arm of chromosome 7.Dinucleotide repeat polymorphism at the D6S223 locus.Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.Assignment of eight human genomic DNA sequences detecting high frequency restriction fragment length polymorphisms.High recombination between two physically close human basement membrane collagen genes at the distal end of chromosome 13q.A high-resolution annotated physical map of the human chromosome 13q12-13 region containing the breast cancer susceptibility locus BRCA2.CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.Primary ciliary dyskinesia in Amish communitiesA gene for congenital generalized lipodystrophy maps to human chromosome 9q34.A genetic risk score combining ten psoriasis risk loci improves disease prediction.Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypesFurther genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22.AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/CReversal of atopic dermatitis with narrow-band UVB phototherapy and biomarkers for therapeutic response.Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.Direct selection of expressed sequences within a 1-Mb region flanking BRCA1 on human chromosome 17q21.JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors.Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis.Direct genomic selection.Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-κB activation.Genetics of psoriasis: the potential impact on new therapies.Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Anne Bowcock
@fr
Anne M Bowcock
@nl
Anne M Bowcock
@sl
Anne M. Bowcock
@en
Anne M. Bowcock
@es
type
label
Anne Bowcock
@fr
Anne M Bowcock
@nl
Anne M Bowcock
@sl
Anne M. Bowcock
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Anne M. Bowcock
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altLabel
Anne Bowcock
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prefLabel
Anne Bowcock
@fr
Anne M Bowcock
@nl
Anne M Bowcock
@sl
Anne M. Bowcock
@en
Anne M. Bowcock
@es
P106
P1153
7006728540
P21
P31
P496
0000-0001-8691-9090