RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
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Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanismsPalmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare diseaseRhomboids, signalling and cell biologyThe genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discoveryRhbdf2 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.Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemiaiRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier functionProteomic analysis of differentially expressed skin proteins in iRhom2(Uncv) miceiRhom2 mutation leads to aberrant hair follicle differentiation in mice.iRhoms 1 and 2 are essential upstream regulators of ADAM17-dependent EGFR signalingiRhoms; Its Functions and Essential Roles.iRhom2 controls the substrate selectivity of stimulated ADAM17-dependent ectodomain shedding.Rhomboid family member 2 regulates cytoskeletal stress-associated Keratin 16.Identification of signaling pathways modulated by RHBDD2 in breast cancer cells: a link to the unfolded protein response.Rhomboid proteins: a role in keratinocyte proliferation and cancer.Structural and mechanistic principles of intramembrane proteolysis--lessons from rhomboids.Proteases and proteomics: cutting to the core of human skin pathologies.Insights into desmosome biology from inherited human skin disease and cardiocutaneous syndromes.Discovery in genetic skin disease: the impact of high throughput genetic technologiesEpidemiology of Esophageal Squamous Cell Carcinoma.Candidate susceptibility variants for esophageal squamous cell carcinoma.Clinical significance of ZNF750 gene expression, a novel tumor suppressor gene, in esophageal squamous cell carcinoma.Genetic deletion of amphiregulin restores the normal skin phenotype in a mouse model of the human skin disease tylosisPalmoplantar keratodermas: clinical and genetic aspects.Alternative Processing of the Amyloid Precursor Protein Family by Rhomboid Protease RHBDL4.Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".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.ADAM17/EGFR axis promotes transglutaminase-dependent skin barrier formation through phosholipase C γ1 and protein kinase C pathways.International cancer seminars: a focus on esophageal squamous cell carcinoma.Emerging roles of rhomboid-like pseudoproteases in inflammatory and innate immune responses.Entamoeba histolytica rhomboid protease 1 has a role in migration and motility as validated by two independent genetic approaches.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.iRHOM2 takes control of rheumatoid arthritis.Rhomboid family gene expression profiling in breast normal tissue and tumor samples.Tissue-specific role of RHBDF2 in cutaneous wound healing and hyperproliferative skin disease.Phosphorylation of iRhom2 Controls Stimulated Proteolytic Shedding by the Metalloprotease ADAM17/TACE.Recessive mutation in FAM83G associated with palmoplantar keratoderma and exuberant scalp hair.
P2860
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P2860
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@ast
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@en
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@en-gb
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@nl
type
label
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@ast
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@en
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@en-gb
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@nl
prefLabel
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@ast
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@en
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@en-gb
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@nl
P2093
P2860
P50
P3181
P1476
RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome
@en
P2093
Andrew P South
Anthony Ellis
Fiona E McRonald
Hans-Christian Hennies
Howard P Stevens
Irene M Leigh
Janet M Risk
Laura J Gay
Nigel K Spurr
Rebecca Carroll
P2860
P3181
P356
10.1016/J.AJHG.2011.12.008
P407
P577
2012-02-10T00:00:00Z