ArticleAmerican journal of human genetics2003
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 53 citations in OpenAlex.
- Lung disease in crisponi/cold-induced sweating syndrome type 1: expanding the clinical phenotype spectrum.European journal of pediatrics · 2026Article
- PERCHING syndrome caused by variant gene KLHL7 in the first Iranian patient: a case report study.Annals of medicine and surgery (2012) · 2024Article
- CRLF1 Is a Key Regulator in the Ligamentum Flavum Hypertrophy.Frontiers in cell and developmental biology · 2020Article
- CRLF1 promotes malignant phenotypes of papillary thyroid carcinoma by activating the MAPK/ERK and PI3K/AKT pathways.Cell death & disease · 2018Article
- Effect of human very low-density lipoproteins on cardiotrophin-like cytokine factor 1 (CLCF1) activity.Scientific reports · 2018Article
- 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
- Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy.Annals of clinical and translational neurology · 2014Article
- Cytokine receptor-like factor 1 (CRLF1) protects against 6-hydroxydopamine toxicity independent of the gp130/JAK signaling pathway.PloS one · 2013Article
- Cold induced sweating syndrome with urinary system anomaly association.Case reports in pediatrics · 2013Article
- Role of cytokine receptor-like factor 1 in hepatic stellate cells and fibrosis.World journal of hepatology · 2012Article
- Cytokine-like factor 1 (CLF1): life after development?Cytokine · 2011Review
- Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.European journal of human genetics : EJHG · 2011Article
- Speeding up HMM algorithms for genetic linkage analysis via chain reductions of the state space.Bioinformatics (Oxford, England) · 2009Article
- Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.American journal of human genetics · 2007Article
- Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.American journal of human genetics · 2007Article
- Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers.American journal of human genetics · 2006Article
- Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.American journal of human genetics · 2004Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
Abstract
In 1978, Sohar et al. described a strikingly peculiar syndrome in two Israeli sisters. These young women responded to environmental temperatures of 18 degrees C-7 degrees C with profuse sweating on large segments on their back and chest. Both had additional abnormalities, including a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend their elbows, and kyphoscoliosis. We have observed this disorder in two Norwegian brothers. Genome-wide screening in the two families, followed by saturation marker studies and linkage analysis, identified a 1.4-Mb homozygous candidate region on chromosome 19p12. The maximum multipoint LOD score was 4.22. In both families, DNA sequencing of 25 genes within the candidate region identified potentially deleterious CRLF1 sequence variants that were not found in unaffected control individuals. Our findings confirm that the cold-induced sweating syndrome is an autosomal recessive disorder that is probably caused by impaired function of the CRLF1 gene, and they suggest important developmental functions for human CRLF1.
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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.