GDF5 Is a Second Locus for Multiple-Synostosis Syndrome
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چکیده
منابع مشابه
A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14.
Spondylocarpotarsal synostosis syndrome is a rare autosomal recessive disorder characterised by vertebral fusions, frequently manifesting as an unsegmented vertebral bar, as well as fusions of the carpal and tarsal bones. In a study of three consanguineous families and one non-consanguineous family, linkage analysis was used to establish the chromosomal location of the disease gene. Linkage ana...
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an investigation was carried out on a young unrelated couple, both 29 years old, with two boys and three girls, 3 months to 8 years old. one boy and the mother were healthy, the other four children and the father were affected. the family, originally from the district of nour, in northern iran, near the caspian sea, was first counseled at the genetic clinic in tehran in 1984. several trips were...
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OBJECTIVE Variation in the major histocompatibility complex (MHC) on chromosome 6p21 is known to influence susceptibility to multiple sclerosis with the strongest effect originating from the HLA-DRB1 gene in the class II region. The possibility that other genes in the MHC independently influence susceptibility to multiple sclerosis has been suggested but remains unconfirmed. METHODS Using a c...
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Metabolic syndrome has a high prevalence (about 22.4% in adult individuals) in developed countries. Inflammation due to obesity and fat accumulation is the most important factor in the progression of metabolic syndrome. In cells which have a receptor for insulin hormone, inflammatory mediators target the insulin signaling pathway and cause insulin resistance. Peroxisome proliferator-activated r...
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BACKGROUND Aicardi-Goutières syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serological investigations for common prenatal infections. AGS may result from a perturbation of interferon alpha metabolism. The disorder is genetically heterogeneous with approximately 50%...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2006
ISSN: 0002-9297
DOI: 10.1086/503204