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A gene family of Na+/H+ exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na+/H+ exchanger isoform responsible for transepithelial, electroneutral Na+ absorption in intestinal and renal epithelial cells. We have previously isolated from a human kidney cortex library a partial human NHE3 cDNA,(More)
Saethre-Chotzen, Crouzon, and Jackson-Weiss syndromes are craniosynostotic autosomal dominant conditions with a wide variability in expression. Saethre-Chotzen has been mapped to chromosome 7p by L. A. Brueton et al. (1992, J. Med. Genet. 29: 681-685), the Greig cephalopolysyndactyly gene was identified at 7p13 by A. Vortkamp et al. (1991, Nature 352:(More)
From the Department of Physiology, Ahmanson Laboratory of Neurobiology and Jerry Lewis Neuromuscular Research Center, University of California, Los Angeles, California 90024; The Laboratory of Biophysics, National Institute of Neurological and Communicative Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20205; and The Marine(More)
To obtain the regional localization of a dinucleotide repeat D19S120 (formerly designated LIPE) with 7 alleles and an observed heterozygosity of 73% (Levitt et al., 1992) we typed 40 CEPH families. Given the high heterozygosity and ease of typing, this marker represents a useful addition to the index map of chromosome 19.
Although alphoid DNA sequences shared among acrocentric chromosomes have been identified, no human chromosome 21-specific sequence has been isolated from the centromeric region. To identify alphoid DNA restriction fragment length polymorphisms (RFLPs) specific for chromosome 21, we hybridized human genomic DNA with alphoid DNA probes [L1.26;(More)
Various medical procedure classifications have been used in combination with disease classifications in Canada for decades. In anticipation of the introduction of the next revision of the International Classification of Diseases (ICD-10), a project has begun to revise the Canadian Classification of Diagnostic, Therapeutic, and Surgical Procedures (CCP) that(More)
Studies investigating the genetic control of total serum IgE levels are of major importance in understanding basic pathophysiologic mechanisms in atopy and asthma, since IgE levels predict onset and correlate with the clinical expression of these disorders. Previous analysis of data from 92 families, ascertained through a parent with asthma, showed evidence(More)
Treacher Collins syndrome is an autosomal dominant disorder of abnormal craniofacial development. Linkage analysis was performed in Treacher Collins families with restriction fragment length or microsatellite polymorphisms associated with eight loci previously mapped to 5q31----qter. Positive lod scores were obtained for four loci, D5S119, D5S207, D5S209,(More)