Zobrazeno 1 - 10
of 14
pro vyhledávání: '"M S, Meyn"'
Autor:
S. Luca, L. Chad, M. S. Meyn, Robin Z. Hayeems, A. Bhatt, Eleanor Pullenayegum, Wendy J. Ungar
Publikováno v:
Genetics in Medicine
Purpose Clinical utility describes a genetic test’s value to patients, families, health-care providers, systems, or society. This study aims to define clinical utility from the perspective of clinicians and develop a novel outcome measure that oper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2110a97900820af48fe183914be3db94
http://europepmc.org/articles/PMC6944639
http://europepmc.org/articles/PMC6944639
Autor:
S. Luca, Robin Z. Hayeems, A. Bhatt, L. Chad, Wendy J. Ungar, Eleanor Pullenayegum, M. S. Meyn
Publikováno v:
Genetics in Medicine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86ad4e43c195de0c476d35dd9590c470
https://doi.org/10.1038/s41436-019-0700-1
https://doi.org/10.1038/s41436-019-0700-1
Autor:
J A, Anderson, R Z, Hayeems, C, Shuman, M J, Szego, N, Monfared, S, Bowdin, R, Zlotnik Shaul, M S, Meyn
Publikováno v:
Clinical genetics. 87(4)
The publication of the ACMG recommendations has reignited the debate over predictive testing for adult-onset disorders in minors. Response has been polarized. With this in mind, we review and critically analyze this debate. First, we identify long-st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::69ac329c6ea86d0a03b8d0208030798e
https://pubmed.ncbi.nlm.nih.gov/25046648
https://pubmed.ncbi.nlm.nih.gov/25046648
Publikováno v:
Radiation and Environmental Biophysics. 40:309-315
The TEL1 gene from Saccharomyces cere- visiae has been shown to be the closest sequence homologue to ATM, the gene mutated in ataxia-telangiectasia (A-T) patients. Functional homology shared between the ATM and Tel1 proteins has recently been demonst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e1e0af894f2f04b1708d649915d40c
https://doi.org/10.1007/s00411-001-0125-4
https://doi.org/10.1007/s00411-001-0125-4
The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes
Autor:
M S Meyn, E R Christenson, E E Brainerd, Terry Ashley, Elaine M. Taylor, Annemieke W. Plug, Nicola J. Bentley, Gail Flaggs, D A Holtzman, Antony M. Carr, S B Moss, Merl F. Hoekstra, Kathleen S. Keegan
Publikováno v:
Genes & Development. 10:2423-2437
A number of cell-cycle checkpoint genes have been shown to play important roles in meiosis. We have characterized the human and mouse counterpart of the Schizosaccharomyces pombe Rad3 protein, named Atr (for ataxia-telangiectasia- and rad3-related),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c814f5b9511190a76b430db9d9e9181
https://doi.org/10.1101/gad.10.19.2423
https://doi.org/10.1101/gad.10.19.2423
Autor:
M S, Meyn
Publikováno v:
Clinical genetics. 55(5)
Ataxia-telangiectasia (A-T) is a pleiotropic inherited disease characterized by neurodegeneration, cancer, immunodeficiencies, radiation sensitivity, and genetic instability. Although A-T homozygotes are rare, the A-T gene may play a role in sporadic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::292755d2d1ecf3e0b72975d4cf4f0541
https://pubmed.ncbi.nlm.nih.gov/10422797
https://pubmed.ncbi.nlm.nih.gov/10422797
Publikováno v:
International Journal of Molecular Medicine.
ATM, the gene mutated in ataxia-telangiectasia (A-T), mediates multiple cellular responses to DNA damage. A-T homozygotes have a high risk of cancer and exhibit spontaneous chromosomal instability, and cultured A-T cells react abnormally to ionizing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::890f78529c72f55d0511abfc73178d81
https://doi.org/10.3892/ijmm.4.1.43
https://doi.org/10.3892/ijmm.4.1.43
Publikováno v:
American journal of medical genetics. 75(1)
Smith-Magenis syndrome (SMS) is caused by an interstitial deletion of chromosome band 17p11.2 averaging 4-5 Mb. This deletion is likely to contain a large number of genes, each of which could potentially contribute toward the clinical phenotype. We r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::98b051ec58d6d2746bc1f0154e47beb9
https://pubmed.ncbi.nlm.nih.gov/9450867
https://pubmed.ncbi.nlm.nih.gov/9450867
Autor:
M. S. Meyn
Publikováno v:
Current Topics in Microbiology and Immunology ISBN: 9783642644344
The ability to maintain genomic integrity in the face of DNA damage is critical for survival. Biological organisms are not merely passive targets of DNA-damaging agents but actively respond to DNA damage in a variety of ways, e.g., the SOS system in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a63182a13bbe84bd865ee4b9fd94bf4f
https://doi.org/10.1007/978-3-642-60505-5_6
https://doi.org/10.1007/978-3-642-60505-5_6
ATM, the gene mutated in the inherited human disease ataxia-telangiectasia, is a member of a family of kinases involved in DNA metabolism and cell-cycle checkpoint control. To help clarify the physiological roles of the ATM protein, we disrupted the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67c80514cecf49a607277f10a48c5b8
https://resolver.caltech.edu/CaltechAUTHORS:20200422-151001347
https://resolver.caltech.edu/CaltechAUTHORS:20200422-151001347