Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Maureen M. Sanz"'
Publikováno v:
Human Mutation. 28:743-753
Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. Since the molecular isolation of BLM, characterization of BS-causing mutations has been carried out systematically using samples stored
Publikováno v:
Cytogenetic and Genome Research. 91:217-223
BLM, the protein encoded by the gene mutated in Bloom’s syndrome (BS), is a phylogenetically highly conserved DNA helicase that varies in amount and distribution in the nucleus during the cell-division cycle. It is undetectable in many cells as the
Publikováno v:
The American Journal of Human Genetics. 65:1368-1374
SummaryThe gene BLM, mutated in Bloom syndrome (BS), encodes the nuclear protein BLM, which when absent, as it is from most BS cells, results in genomic instability. A manifestation of this instability is an excessive rate of sister-chromatid exchang
Autor:
James German, Kathleen H. Goss, Maureen M Sanz, Joel E. Straughen, Mary Risinger, Anthony J. Capobianco, Lisa E. Slovek, Joanna Groden, Jennifer J. Kordich, Gregory P. Boivin
Publikováno v:
Science. 297:2051-2053
Persons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types due to loss-of-function mutations in the BLM gene, which encodes a recQ-like helicase. Here we show that mice heterozygous for a targeted null mutat
Autor:
Michael S. Krawczun, Carol Schwartz-Richstein, Maureen M. Sanz, Hong Gu, Mary Lee Salandi, Charlotte J. Duncan, Kusum P. Lele, Edmund C. Jenkins, Marilyn Genovese
Publikováno v:
Pathobiology. 58:236-240
We have been attempting to develop a consistently reliable internal control to assure the effectiveness of the 5-fluorodeoxyuridine (FUdR) fragile-X [fra(X)] induction system. We carried out a systematic study of whole-blood specimens cultured from 5
Publikováno v:
Hormone research. 66(3)
Aims: To obtain an understanding of the etiology of proportional dwarfism and endocrinopathies of Bloom’s syndrome (BS). Methods: Admission for 5-day periods to an NIH-supported Clinical Research Center of a randomly selected population of persons
Autor:
A. J. Van Brabant, James German, William K. Holloman, Nathan A. Ellis, Maureen M Sanz, Tian-Zhang Ye
Publikováno v:
Biochemistry. 39(47)
Bloom syndrome is a rare autosomal disorder characterized by predisposition to cancer and genomic instability. BLM, the structural gene mutated in individuals with the disorder, encodes a DNA helicase belonging to the RecQ family of helicases. These
Autor:
Norma F. Neff, James P. Noonan, Tian Zhang Ye, Maureen M Sanz, Kelly Huang, Nathan A. Ellis, Maria Proytcheva
Publikováno v:
Molecular biology of the cell. 10(3)
Bloom syndrome (BS) is a rare autosomal recessive disorder characterized by growth deficiency, immunodeficiency, genomic instability, and the early development of cancers of many types. BLM, the protein encoded by BLM, the gene mutated in BS, is loca
Autor:
Beth A. Pletcher, Maureen M. Sanz, James H. Ray, W. Ted Brown, Suphat Kunaporn, Jerrold S. Schlessel, Ann-Leslie Zaslav, Martin G. Bialer, Carrie McKenna, M. Lita Alonso
Publikováno v:
Prenatal diagnosis. 14(10)
Two phenotypically abnormal liveborns in whom trisomy 16 mosaicism was diagnosed prenatally by amniocentesis are described. Analysis of a percutaneous umbilical blood sample in one case revealed a normal chromosomal complement. Ultrasound examination
Publikováno v:
American journal of medical genetics. 38(2-3)
Expression of fragile X [fra(X)] (q27.3) and en-doreduplicated metaphases have been reported in methotrexate-treated (MTX) fra(X) cultures (Kerem B, Biotein R, Schaap T [1988]: Chromosoma 97: 6–10). Further, new data (Kimchi-Sarfaty C, Goitein R, K