The gene for pycnodysostosis maps to human chromosome 1cen–q21
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چکیده
منابع مشابه
The gene for cherubism maps to chromosome 4p16.3.
Cherubism is a rare familial disease of childhood characterized by proliferative lesions within the mandible and maxilla that lead to prominence of the lower face and an appearance reminiscent of the cherubs portrayed in Renaissance art. Resolution of these bony abnormalities is often observed after puberty. Many cases are inherited in an autosomal dominant fashion, although several cases witho...
متن کاملThe gene for cherubism maps to chromosome 4p16.
Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. ...
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Asthma is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. Numerous loci and candidate genes have been reported to show linkage and association to asthma and atopy. Although some studies reporting these observations are compelling, no gene has been mapped that confers a sufficiently hi...
متن کاملObesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1.
Pycnodysostosis is a rare autosomal recessive bone disorder that results from loss-of-function mutations in the CTSK gene. This gene is located at chromosome band 1q21 and codes for a lysosomal cysteine protease that functions in bone resorption and remodeling [Gelb et al., 1996]. In the last 40 years, an atypical mode of inheritance (uniparental disomy—UPD) has been recognized as a mechanism r...
متن کاملHuman HST1 (HSTF1) gene maps to chromosome band 11q13 and coamplifies with the INT2 gene in human cancer.
The human HST1 gene, previously designated the hst gene, and now assigned the name HSTF1 for heparin-binding secretory transforming factor in human gene nomenclature, was originally identified as a transforming gene in DNAs from human stomach cancers by transfection assay with mouse NIH 3T3 cells. The amino acid sequence of the product deduced from DNA sequences of the HST1 cDNA and genomic clo...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 1995
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng0695-238