Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes
about
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis PigmentosaDe novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Cytokine receptor-like factor 1 (CRLF1) protects against 6-hydroxydopamine toxicity independent of the gp130/JAK signaling pathway.Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disordersWarmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.Cytokine-like factor 1 gene expression is enriched in idiopathic pulmonary fibrosis and drives the accumulation of CD4+ T cells in murine lungs: evidence for an antifibrotic role in bleomycin injury.Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.Cytokine-like factor 1 (CLF1): life after development?Stüve-Wiedemann syndrome and related bent bone dysplasias.Trismus in the paediatric population.Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome.Cytokine-Like Factor 1, an Essential Facilitator of Cardiotrophin-Like Cytokine:Ciliary Neurotrophic Factor Receptor α Signaling and sorLA-Mediated Turnover.Role of cytokine receptor-like factor 1 in hepatic stellate cells and fibrosis.Mutations in CRLF1 cause familial achalasia.Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.CRLF1 promotes malignant phenotypes of papillary thyroid carcinoma by activating the MAPK/ERK and PI3K/AKT pathways.Crisponi/CISS1 syndrome: A case series.Effect of human very low-density lipoproteins on cardiotrophin-like cytokine factor 1 (CLCF1) activity.
P2860
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P2860
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes
description
2007 nî lūn-bûn
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2007 թուականի Մայիսին հրատարակուած գիտական յօդուած
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2007 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
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2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
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2007年論文
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2007年论文
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name
Mutations in cytokine receptor ...... old-induced sweating syndromes
@ast
Mutations in cytokine receptor ...... old-induced sweating syndromes
@en
Mutations in cytokine receptor ...... old-induced sweating syndromes
@nl
type
label
Mutations in cytokine receptor ...... old-induced sweating syndromes
@ast
Mutations in cytokine receptor ...... old-induced sweating syndromes
@en
Mutations in cytokine receptor ...... old-induced sweating syndromes
@nl
prefLabel
Mutations in cytokine receptor ...... old-induced sweating syndromes
@ast
Mutations in cytokine receptor ...... old-induced sweating syndromes
@en
Mutations in cytokine receptor ...... old-induced sweating syndromes
@nl
P2093
P2860
P356
P1476
Mutations in cytokine receptor ...... old-induced sweating syndromes
@en
P2093
L I Al-Gazali
M Di Rocco
N Dagoneau
P Blanchet
V Cormier-Daire
P2860
P304
P356
10.1086/513608
P407
P577
2007-05-01T00:00:00Z