Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer - Wikidata - wikimedia - TriplyDB

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer

http://www.wikidata.org/entity/Q57567427

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Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms Rhbdf2 mutations increase its protein stability and drive EGFR hyperactivation through enhanced secretion of amphiregulin.Phosphorylation of iRhom2 at the plasma membrane controls mammalian TACE-dependent inflammatory and growth factor signalling.iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function iRhoms; Its Functions and Essential Roles.Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.Rhomboid proteins: a role in keratinocyte proliferation and cancer.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.Candidate susceptibility variants for esophageal squamous cell carcinoma.Genetic deletion of amphiregulin restores the normal skin phenotype in a mouse model of the human skin disease tylosis Deletions in the cytoplasmic domain of iRhom1 and iRhom2 promote shedding of the TNF receptor by the protease ADAM17.Regulation of A disintegrin and metalloproteinase (ADAM) family sheddases ADAM10 and ADAM17: The emerging role of tetraspanins and rhomboids.Emerging roles of rhomboid-like pseudoproteases in inflammatory and innate immune responses.Mammalian iRhoms have distinct physiological functions including an essential role in TACE regulation.Genetic interaction implicates iRhom2 in the regulation of EGF receptor signalling in mice.Tissue-specific role of RHBDF2 in cutaneous wound healing and hyperproliferative skin disease.iRhom2 (Uncv) mutation blocks bulge stem cells assuming the fate of hair follicle.FRMD8 promotes inflammatory and growth factor signalling by stabilising the iRhom/ADAM17 sheddase complex

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Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer

http://www.wikidata.org/entity/Q57567427

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article

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wetenschappelijk artikel

@nl

наукова стаття, опублікована в травні 2012

@uk

name

Analysis of a Finnish family c ...... tylosis with esophageal cancer

@en

Analysis of a Finnish family c ...... tylosis with esophageal cancer

@nl

type

label

Analysis of a Finnish family c ...... tylosis with esophageal cancer

@en

Analysis of a Finnish family c ...... tylosis with esophageal cancer

@nl

prefLabel

Analysis of a Finnish family c ...... tylosis with esophageal cancer

@en

Analysis of a Finnish family c ...... tylosis with esophageal cancer

@nl

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S10689-012-9532-8

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Familial Cancer

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Analysis of a Finnish family c ...... tylosis with esophageal cancer

@en

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Kristiina Aittomäki

http://www.w3.org/2001/XMLSchema#string

Pia Vahteristo

http://www.w3.org/2001/XMLSchema#string

Silva Saarinen

http://www.w3.org/2001/XMLSchema#string

Tuula Kiviluoto

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Virpi Launonen

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P2860

Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome

Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE

Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family--a review of six generations.

Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene.

Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster.

Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus

Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q

Tylosis oesophageal cancer mapped

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s10689-012-9532-8

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525-528

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scholarly article

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10.1007/S10689-012-9532-8

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3

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11

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Rainer Lehtonen

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2012-09-01T00:00:00Z

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22638770

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