Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Lisa D. McDaniel"'
Autor:
Megan E. Tucker, Luis F. Escobar, David Chitayat, Nicholas J. Neill, Beth S. Torchia, Roger A. Schultz, Karen Chong, Jill A. Rosenfeld, Lisa D McDaniel
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 46:478-486
Objectives To determine the frequency of clinically significant chromosomal abnormalities identified by chromosomal microarray in pregnancy losses at any gestational age and to compare microarray performance with that of traditional cytogenetic analy
Autor:
Emad Bahrami-Samani, Philip J. Uren, Ramsey Johnson, Lisa D. McDaniel, Catherine Terhaar, Jennifer C. Luque
Publikováno v:
Fertility and Sterility. 112:e258
Autor:
Lisa D. McDaniel, Yanping Chen, Roger A. Schultz, Changshun Shao, Irina V. Tereshchenko, Jay A. Tischfield
Publikováno v:
DNA Repair. 9:551-557
BLM , the gene mutated in Bloom syndrome (BS), encodes an ATP-dependent RecQ DNA helicase that is involved in the resolution of Holliday junctions, in the suppression of crossovers and in the management of damaged replication forks. Cells from BS pat
Publikováno v:
DNA Repair. 6:100-114
The disease Xeroderma Pigmentosum (XP) is genetically heterogeneous and defined by pathogenic variants (formerly termed mutations) in any of eight different genes. Pathogenic variants in the XPC gene are the most commonly observed in US patients. Mor
Autor:
Eric J. Stanbridge, Darrell J. Tomkins, Martin J. Somerville, Lisa D. McDaniel, Errol C. Friedberg, Roger A. Schultz
Publikováno v:
The American Journal of Human Genetics. 77:132-139
Roberts syndrome (RS) is a developmental disorder characterized by tetraphocomelia and a broad spectrum of additional clinical features. Most patients with RS exhibit characteristic cytogenetic phenotypes, which include an abnormal appearance of peri
Autor:
Susana Velasco-Miguel, Errol C. Friedberg, Dorit Nahari, Laurie B. Task, Russell L Daniel, Lisa D. McDaniel
Publikováno v:
DNA Repair. 3:379-386
Mutational hot spots in the human p53 gene are well established in tumors in the human population and are frequently negative prognosticators of the clinical outcome. We previously developed a mouse model of skin cancer with mutations in the xeroderm
Publikováno v:
Current Opinion in Genetics & Development. 14:5-10
The field of DNA damage responsiveness in general, and the consequences of endogenous and exogenous base damage in DNA, in particular, has made new and exciting contributions to our increasing understanding of the initiation and progression of neopla
Autor:
Mark J. Watson, Roger A. Schultz, Alexander D. Borowsky, Lisa D. McDaniel, Philip Leder, Nicholas Chester
Publikováno v:
DNA Repair. 2:1387-1404
Independent mouse models for Bloom syndrome (BS) exist, each thought to disrupt Blm gene function. However, animals bearing these alleles exhibit distinct phenotypes. Blm tm1Ches and Blm tm1Grdn homozygous mutant animals exhibit embryonic lethality w
Publikováno v:
Genomics. 80:509-514
Messenger RNA polyadenylation in male germ cells does not seem to require the AAUAAA polyadenylation signal required in all other cell types. To account for this difference, we found a variant form of the polyadenylation protein, the 64,000 Mr protei
Autor:
Marila Cordeiro-Stone, Lisa D. McDaniel, Miriam F. Bryant, William K. Kaufmann, Stephanie B. Hatch, Ikechukwu Oguejiofor, Alexandra R. Frank
Publikováno v:
Carcinogenesis. 23:959-966
Lack of DNA polymerase eta and the attendant defect in bypass replication of pyrimidine dimers induced in DNA by ultraviolet light (UV) underlie the enhanced mutagenesis and carcinogenesis observed in xeroderma pigmentosum variant (XP-V). We investig