Now showing items 1-10 of 184
A radiation hybrid map of the proximal short arm of the human X chromosome spanning incontinentia pigmenti 1 (IP1) translocation breakpoints
(Elsevier, 1992-11)
Radiation hybrid mapping was used in combination with physical mapping techniques to order and estimate distances between 14 loci in the proximal region of the short arm of the human X chromosome. A panel of radiation ...
Protein tyrosine phosphatases: characterization of extracellular and intracellular domains
(Elsevier, 1994-02)
Protein tyrosine phosphatases (PTPs) play an important role in the regulation of cell growth and differentiation. With over 30 PTPs identified, the specific functions of these enzymes are now being addressed. The identification ...
The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26
(Elsevier, 1991-10)
Human tissues have two distinct cholinesterase activities: acetylcholinesterase and butyrylcholinesterase. Acetylcholinesterase functions in the transmission of nerve impulses, whereas the physiological function of ...
Synthesis of normal and variant human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli
(Elsevier, 1993-01-30)
Naturally occurring mutations in hypoxanthine-guanine phosphoribosyltransferase (HPRT) have been identified by amino acid sequencing, cDNA cloning, and direct nucleotide sequencing of PCR-amplified transcripts. To determine ...
Nucleotide Sequence Analysis of 77.7 kb of the Human V[beta] T-Cell Receptor Gene Locus: Direct Primer-Walking Using Cosmid Template DNAs
(Elsevier, 1994-03-15)
The nucleotide sequence of 77.7 kb from the human T-cell receptor [beta]-chain locus was determined directly from three overlapping cosmid clones using the primer-walking approach. Computer-aided analyses of this sequence ...
NF1-related locus on chromosome 15
(Elsevier, 1992-08)
A neurofibromatosis type I (NF1)-related locus has been identified on chromosome 15. It contains a partial copy of the NF1 GAP-related domain, which is known to interact with the ras protooncogenes. However, the chromosome ...
Isolation and sequence analysis of CDC43, a gene involved in the controol of cell polarity in Saccharomyces cerevisiae
(Elsevier, 1990-05-31)
The Saccharomyces cerevisiae CDC43 gene product is involved in establishing cell polarity during the cell-division cycle. When grown at restrictive temperatures, temperature-sensitive cdc43 mutants are unable to form buds ...
Computation of multilocus prior probability of autozygosity for complex inbred pedigrees
(Wiley Subscription Services, Inc., A Wiley Company, 1997)
Homozygosity mapping is a very powerful method for mapping rare recessive diseases in humans. In many applications, it is often desirable to compute prior (or unconditional) multilocus probability of autozygosity for inbred ...
Human chromosome 17 NotI linking clones and their use in long-range restriction mapping of the Miller-Dieker chromosome region (MDCR) in 17p13.3
(Elsevier, 1990-06)
A NotI linking library constructed from flow-sorted human chromosome 17 material was screened to aid in construction of a long-range restriction map of the Miller-Dieker chromosome region (MDCR) in 17p13.3. A total of 66 ...
Syndrome X: Is it for real?
(Wiley Subscription Services, Inc., A Wiley Company, 1998)
The term syndrome X has been applied to the association of hypertension, non-insulin-dependent diabetes mellitus (NIDDM), android obesity, insulin resistance, and dyslipidemia. In this paper, based on population samples ...