about
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndromeNovel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two familiesMutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesionRole for WNT16B in human epidermal keratinocyte proliferation and differentiationMutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.Lack of mutations within ST7 gene in tumour-derived cell lines and primary epithelial tumoursAllelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysisTylosis with oesophageal cancer: Diagnosis, management and molecular mechanismsMutations in R-spondin 4 (RSPO4) underlie inherited anonychiaLoss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular AdhesionsConnexin mutations associated with palmoplantar keratoderma and profound deafness in a single familyHuman elastase 1: evidence for expression in the skin and the identification of a frequent frameshift polymorphismN-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratodermaGermline deletions of EXO1 do not cause colorectal tumors and lesions which are null for EXO1 do not have microsatellite instabilitySPINK5: both rare and common skin diseaseA mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 proteinABCA12 is the major harlequin ichthyosis geneLocalization of a second NM23 gene, NME2, to chromosome 17q21-q22Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in childrenThiopurine methyltransferase pharmacogenetics: human gene cloning and characterization of a common polymorphismTissue restricted expression of two human Frzbs in preadipocytes and pancreasCryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-αLoss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndromeMutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.The palmoplantar keratodermas: much more than palms and soles.A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25.iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier functionLocalization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.Characterisation and validation of insertions and deletions in 173 patient exomesThe gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesionLoss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads.Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss
P50
Q24302343-47A0DA32-BCFB-4C38-932C-4ED9D3B5F9D1Q24321309-6E43DA28-FEE5-4B04-8272-34C5E2D5099AQ24338550-CDA8FA31-49C1-46A5-B5CA-CFEF92105E40Q24338609-7F2574B0-A33C-42C5-B709-095B59BCC971Q24531488-AACCAC55-61DA-4000-B053-42BD98EB1EB0Q24539101-7EB80742-CC04-4CC3-BF23-E1939644F1F5Q24641847-A919EA47-603C-4828-9F33-98E4578F01C0Q24657188-52B211E7-C787-4DEA-8529-00391049214AQ26784445-7D3CCAD9-68FE-4965-BB8C-A8196539FFCBQ28118698-E2BC7BE5-2D21-4A15-81F2-5CD1A8DCBD20Q28119069-3747F061-0C9A-4480-A67A-F7117D73FB5FQ28141408-9ECA9193-164A-483C-9FC1-70000077EAC8Q28141840-BF7071D8-C957-415C-BCDC-3437FC524756Q28144275-D9BE5DA1-4A59-4E83-8BBE-2D14CE013DA8Q28185113-B506E37A-1B3A-431A-9DB1-2D4E34764438Q28215802-408E3770-A50B-498E-96BC-C793E1A70E58Q28218278-BF4B5E0B-D130-43FA-AC9F-D04BF675A9C7Q28257186-8776B85A-17D1-4443-8739-11C795F1C681Q28264585-952354A4-3B41-457F-9908-DDE4DF056913Q28272365-ED3B957F-5E58-4AEB-AD74-059B1FDDEC06Q28273300-414C7AAB-9BB1-40FC-884A-E2B2C5DE8C88Q28274759-07F4BB52-D3A1-4D79-801D-1D537708BAF7Q28282217-ED1A5A53-FF94-40C7-A7DD-536477831BCAQ28296280-EDB5D10D-9E17-45BF-9A83-B7DAAF944513Q30351899-619CEB5A-4F9B-43FC-8192-CC3C8F934B6DQ33594145-349C9D90-1BBA-4206-8757-83867A38894EQ33680222-5533B388-C89C-4E0B-9157-31E2E41D6C28Q33868337-7B1EACE8-C3DE-4BE2-A590-18CEB59BF64BQ33947954-4D3815B6-C959-4DBA-9FA4-223099A59AC1Q34020718-B7EEFAB1-5440-4040-AD46-02F6D7CCDBE1Q34115940-3387B07F-14AD-42DB-954C-6F92D485A21FQ34166045-2A07EEFA-BD7B-437C-8E46-188214E4BE4EQ34516375-EABFD810-B7F4-443F-9561-5D37D2A27CF9Q34573951-7C9D9459-5BE6-4D3B-8C3B-3FAC04F9DBC5Q34586621-E7DCB8AA-CDB7-4F2E-AEFD-DA87ACD3A551Q34597107-DD1E16F6-0130-499E-ABA1-0F03254C0A61Q35157070-1602841C-68E3-4D94-9FBC-9D285F4CE1F1Q35192319-3E91E674-FAA8-41C7-8C03-99B4ACEC0447Q35221685-39B28C2B-9964-4B3F-91D7-7243F533AC16Q35436038-AB4CC397-471D-4184-A68E-E9A78AD25A78
P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
David P. Kelsell
@ast
David P. Kelsell
@en
David P. Kelsell
@es
David P. Kelsell
@nl
David P. Kelsell
@sl
type
label
David P. Kelsell
@ast
David P. Kelsell
@en
David P. Kelsell
@es
David P. Kelsell
@nl
David P. Kelsell
@sl
prefLabel
David P. Kelsell
@ast
David P. Kelsell
@en
David P. Kelsell
@es
David P. Kelsell
@nl
David P. Kelsell
@sl
P106
P1153
7004495789
P21
P31
P496
0000-0002-9910-7144