ArticleEuropean journal of human genetics : EJHG2011
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 41 citations in OpenAlex.
- Lung disease in crisponi/cold-induced sweating syndrome type 1: expanding the clinical phenotype spectrum.European journal of pediatrics · 2026Article
- Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.Journal of clinical medicine · 2025Article
- An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.Diagnostics (Basel, Switzerland) · 2025Article
- CRLF1 bridges AKT and mTORC2 through SIN1 to inhibit pyroptosis and enhance chemo-resistance in ovarian cancer.Cell death & disease · 2024Article
- Observational
- Article
- Cytokine receptor-like factor 1 (CRLF1) promotes cardiac fibrosis via ERK1/2 signaling pathway.Journal of Zhejiang University. Science. B · 2023Article
- CRLF1 and CLCF1 in Development, Health and Disease.International journal of molecular sciences · 2022Review
- CRLF1 Is a Key Regulator in the Ligamentum Flavum Hypertrophy.Frontiers in cell and developmental biology · 2020Article
- Effect of human very low-density lipoproteins on cardiotrophin-like cytokine factor 1 (CLCF1) activity.Scientific reports · 2018Article
- Stratified polygenic risk prediction model with application to CAGI bipolar disorder sequencing data.Human mutation · 2017Article
- Cytokine-Like Factor 1, an Essential Facilitator of Cardiotrophin-Like Cytokine:Ciliary Neurotrophic Factor Receptor α Signaling and sorLA-Mediated Turnover.Molecular and cellular biology · 2016Article
- Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene.Journal of neurology & neuromedicine · 2016Article
- Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.Orphanet journal of rare diseases · 2014Review
- Cold induced sweating syndrome with urinary system anomaly association.Case reports in pediatrics · 2013Article
- Cytokine receptor-like factor 1 (CRLF1) protects against 6-hydroxydopamine toxicity independent of the gp130/JAK signaling pathway.PloS one · 2013Article
- Role of cytokine receptor-like factor 1 in hepatic stellate cells and fibrosis.World journal of hepatology · 2012Article
- 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.The American journal of pathology · 2012Article
- Cytokine-like factor 1 (CLF1): life after development?Cytokine · 2011Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 7 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first years of life. To evaluate a potential genotype/phenotype correlation and whether CS and CISS1 represent two allelic diseases or manifestations at different ages of the same disorder, we carried out a detailed clinical analysis of 19 patients carrying mutations in CRLF1. We studied the functional significance of the mutations found in CRLF1, providing evidence that phenotypic severity of the two disorders mainly depends on altered kinetics of secretion of the mutated CRLF1 protein. On the basis of these findings, we believe that the two syndromes, CS and CISS1, represent manifestations of the same disorder, with different degrees of severity. We suggest renaming the two genetic entities CS and CISS1 with the broader term of Sohar-Crisponi syndrome.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.