| http://purl.uniprot.org/citations/27392078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27392078 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27392078 | http://www.w3.org/2000/01/rdf-schema#comment | "Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical features: hyperthermia and feeding difficulties in the neonatal period, scoliosis, and paradoxical sweating induced by cold since early childhood. CS/CISS1 can be caused by mutations in cytokine receptor-like factor 1 (CRLF1). However, the physiopathological role of CRLF1 is still poorly understood. A subset of CS/CISS1 cases remain yet genetically unexplained after CRLF1 sequencing. In five of them, exome sequencing and targeted Sanger sequencing identified four homozygous disease-causing mutations in kelch-like family member 7 (KLHL7), affecting the Kelch domains of the protein. KLHL7 encodes a BTB-Kelch-related protein involved in the ubiquitination of target proteins for proteasome-mediated degradation. Mono-allelic substitutions in other domains of KLHL7 have been reported in three families affected by a late-onset form of autosomal-dominant retinitis pigmentosa. Retinitis pigmentosa was also present in two surviving children reported here carrying bi-allelic KLHL7 mutations. KLHL7 mutations are thus associated with a more severe phenotype in recessive than in dominant cases. Although these data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype, they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.05.026"xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.05.026"xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Buers I."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Buers I."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Rutsch F."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Rutsch F."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Hoehne W."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Hoehne W."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Boduroglu K."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Boduroglu K."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Kilic E."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Kilic E."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Utine G.E."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Utine G.E."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Angius A."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Angius A."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Deiana M."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Deiana M."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Loi A."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Loi A."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Zampino G."xsd:string |
| http://purl.uniprot.org/citations/27392078 | http://purl.uniprot.org/core/author | "Zampino G."xsd:string |