David Viskochil
Howard Hughes Medical Institute
Network
Latest external collaboration on country level. Dive into details by clicking on the dots.
Publication
Featured researches published by David Viskochil.
Genomics | 1990
Richard M. Cawthon; P. O'Connell; Arthur M. Buchberg; David Viskochil; Robert B. Weiss; M. Culver; Jeffrey Stevens; Nancy A. Jenkins; Neal G. Copeland; Ray White
Mapping of the EVI2 gene between the translocation breakpoints of two patients with neurofibromatosis type 1 (NF1), combined with the likely role of its murine homolog in neoplastic disease, implicates EVI2 as a possible candidate for the NF1 gene. We report here the expression of a 1.6-kb EVI2 transcript in normal human brain and peripheral blood mononuclear cells. Sequencing studies predict an EVI2 protein of 232 amino acids that contains an N-terminal signal peptide, an extracellular domain with five potential glycosylation sites, a single hydrophobic transmembrane domain with a leucine zipper, and a hydrophilic cytoplasmic domain. These features are all well-conserved with respect to the mouse Evi-2 protein and are consistent with the hypothesis that EVI2 is a membrane protein that may complex with itself and/or other proteins within the membrane, perhaps to function as part of a cell-surface receptor. In the course of these studies we have also identified three other transcripts (classes of cDNAs) from the NF1 region. Two of these transcripts map between the NF1 translocation breakpoints; the remaining transcript maps just outside this region.
Genomics | 1990
P. O'Connell; David Viskochil; Arthur M. Buchberg; Jane W. Fountain; Richard M. Cawthon; M. Culver; Jeffrey Stevens; Donna C. Rich; David H. Ledbetter; Margaret R. Wallace; John C. Carey; Nancy A. Jenkins; Neal G. Copeland; Francis S. Collins; Ray White
Von Recklinghausen neurofibromatosis (NF1) is one of the most common inherited human disorders. The genetic locus that harbors the mutation(s) responsible for NF1 is near the centromere of chromosome 17, within band q11.2. Translocation breakpoints that have been found in this region in two patients with NF1 provide physical landmarks and suggest an approach to identifying the NF1 gene. As part of our exploration of this region, we have mapped the human homolog of a murine gene (Evi-2) implicated in myeloid tumors to a location between the two translocation breakpoints on chromosome 17. Cosmid-walk clones define a 60-kb region between the two NF1 translocation breakpoints. The probable role of Evi-2 in murine neoplastic disease and the map location of the human homolog suggest a potential role for EVI2 in NF1, but no physical rearrangements of this gene locus are apparent in 87 NF1 patients.
Journal of Medical Genetics | 1990
Meena Upadhyaya; A Cheryson; W Broadhead; A Fryer; D J Shaw; Susan M. Huson; Margaret R. Wallace; Lone B. Andersen; Douglas A. Marchuk; David Viskochil
A deletion of 90 kb of DNA has been identified in a patient with neurofibromatosis type 1, using pulsed field gel electrophoresis. The deletion lies between probes 17L1A and AC5 in the critical region of chromosome 17 and represents the only molecular alteration found by PFGE in a series of 90 unrelated patients. The subject showing the deletion is an isolated case, shows typical clinical features, and represents one of the first examples of a molecular deletion to be found in this disorder.
Annals of the New York Academy of Sciences | 1991
P. O'Connell; Richard M. Cawthon; David Viskochil; R. White; John C. Carey; Arthur M. Buchberg
The genetic locus that harbors mutation(s) responsible for neurofibromatosis type 1 (NF1) is on chromosome 17, within band q11.2. We have mapped the human homologue of a murine gene (Evi-2) that is implicated in myeloid tumors, to a location between two NF1 translocation breakpoints on chromosome 17. Sequencing studies predict that EVI2 is a membrane protein that may complex with itself and/or other proteins within the membrane, perhaps to function as part of a cell-surface receptor. In the course of these studies we have also identified three other transcripts (classes of cDNAs) from the NF1 region. Two of them map between the NF1 translocation breakpoints; the remaining transcript maps just outside this region. The map location implicates these four genes as possible candidates for harboring NF1 mutations.
Genomics | 1991
Richard M. Cawthon; Lone B. Andersen; Arthur M. Buchberg; Gangfeng Xu; P. O'Connell; David Viskochil; Robert B. Weiss; Margaret R. Wallace; Douglas A. Marchuk; M. Culver; Jeffrey Stevens; Nancy A. Jenkins; Neal G. Copeland; Francis S. Collins; Ray White
American Journal of Human Genetics | 1993
Lynn B. Jorde; W. S. Watkins; David Viskochil; P. O'Connell; Kenneth Ward
American Journal of Human Genetics | 1996
Smita M. Purandare; Richard M. Cawthon; Lesa Nelson; Shun'ichi Sawada; W. S. Watkins; Kenneth Ward; L. B. Jorde; David Viskochil
Genes, Chromosomes and Cancer | 1990
Margaret R. Wallace; Lone B. Andersen; Jane W. Fountain; Hana Odeh; David Viskochil; Douglas A. Marchuk; P. O'Connell; R. White; Francis S. Collins
Archive | 2015
David A. Stevenson; David Viskochil; Rong Mao
Archive | 2015
David A. Stevenson; David Viskochil; Rong Mao