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Defects of the JAK3‐gene are known to cause an autosomal recessive form of severe combined immunodeficiency with almost absent T‐cells and functionally defective B‐cells (T‐B+SCID). The JAK3 protein, an intracellular tyrosine kinase, is crucial for signal‐transmission from the common...
Mutations in the transcription factor hepatocyte nuclear factor‐1ॅ (HNF‐1ॅ; gene symbol TCF1) cause maturity‐onset diabetes of the young type 3 (MODY3), a form of diabetes mellitus characterized by autosomal dominant inheritance, early onset, and pancreatic ॆ‐cell dysfunction....
X‐linked agammglobulinemia (XLA) is a ptototypical humoral immunodeficiency caused by mutations in the gene coding for Bruton tyrosine kinase (BTK). The genetic defect in XLA impairs early B cell development resulting in marked reduction of mature B cells in the blood. Studies from different...
Heterozygous familial hypercholesterolemia (FH) is a relatively common autosomal dominant disorder, which is characterized by elevated plasma concentrations of low density lipoprotein (LDL) cholesterol and early coronary heart disease. FH results from mutations in the gene encoding the LDL...
Triple helix formation is a prerequisite for the passage of type I procollagen from the endoplasmic reticulum and secretion from the cell to form extracellular fibrils that will support mineral deposition in bone. Analysis of cDNA from 11 unrelated individuals with osteogenesis imperfecta (OI)...
During the last 10 years, an increasing number of genes have been identified whose abnormalities account for primary immunodeficiencies, with defects in development and/or function of the immune system. Among them is the JAK3‐gene, encoding for a tyrosine kinase that is functionally coupled to...
The 10th International Mutation Database Initiative Meeting was held on April 19, 2001, in conjunction with the annual Human Genome Meeting in Edinburgh, Scotland. Key points of the meeting are described here. The BiSC WayStation was presented as an operational, viable beginning to the solution...
We previously reported the occurrence of novel dinucleotide mutations of the K‐RAS gene (KRAS2) in 2% of pancreatic tumors sampled, but it remained unknown whether these were functional mutations that convert the proto‐oncogene to an oncogene, or unselected mutations that might inactivate...
Mucopolysaccharidosis type VI (MPS‐VI) is an autosomal recessive lysosomal storage disorder caused by the deficiency of N‐acetylgalactosamine‐4‐sulfatase (4S; or ARSB). Mutations in the 4S gene are responsible for 4S deficiency, which leads to the intralysosomal storage of partially...
Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation...
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