Výsledky vyhledávání - "Sunday M. Stray"

Loss of function germline mutations in RAD51D in women with ovarian carcinoma

Autor: Anneka, Wickramanayake, Anneka, Wickramanyake, Greta, Bernier, Christopher, Pennil, Silvia, Casadei, Kathy J, Agnew, Sunday M, Stray, Jessica, Mandell, Rochelle L, Garcia, Tom, Walsh, Mary-Claire, King, Elizabeth M, Swisher

Publikováno v: Gynecologic Oncology. 127:552-555

Objective RAD51D , a gene in the Fanconi Anemia–BRCA homologous recombination pathway, has recently been shown to harbor germline mutations responsible for ovarian carcinoma in multiply affected families. We aimed to extend these results to ovarian

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b08407fbe3806a9465eab978207e98e1
https://doi.org/10.1016/j.ygyno.2012.09.009

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Garrod's fourth inborn error of metabolism solved by the identification of mutations causing pentosuria

Autor: Michael J. MacCoss, Sharon Zeligson, Sarah B. Pierce, Ephrat Levy-Lahad, Sunday M. Stray, Michael S. Bereman, Arno G. Motulsky, Siv Fokstuen, Jessica B. Mandell, Mary Claire King, Ming K. Lee, Cailyn Spurrell

Publikováno v: Proceedings of the National Academy of Sciences. 108:18313-18317

Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism. Mutations responsible for the other three conditions (albinism, alkaptonuria, and cystinuria) have been identified, but the mutations res

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824829bb13021252ba0ebd579dfde4cb
https://doi.org/10.1073/pnas.1115888108

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Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

Autor: Mary Claire King, Shane McCarthy, Bryan H. King, Susan M. Taylor, Kristen Lewis O'Connor, Mary Kusenda, Sunday M. Stray, Tom Walsh, Jonathan Sebat, Diane E. Dickel, Wendy Roeb, Alexander Nord, Dheeraj Malhotra, Jon McClellan

Publikováno v: European Journal of Human Genetics. 19:727-731

Individuals with autism are more likely to carry rare inherited and de novo copy number variants (CNVs). However, further research is needed to establish which CNVs are causal and the mechanisms by which these CNVs influence autism. We examined genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f451484d2485f6e49b6654778470b88b
https://doi.org/10.1038/ejhg.2011.24

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Human platelet glycoprotein V: its role in enhancing expression of the glycoprotein Ib receptor

Autor: Sunday M. Stray, David C. Calverley, Mayumi Yagi, Gerald J. Roth

Publikováno v: Blood. 86:1361-1367

Platelet adhesion to an injured blood vessel wall is a critical initiating step in hemostasis mediated by a four member receptor complex (glycoprotein Ib/V/IX) interacting with plasma von Willebrand factor (vWF). The function of the GPV subunit withi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9668b5bcffaa4ca53fd08ab41dcec0f3
https://doi.org/10.1182/blood.v86.4.1361.bloodjournal8641361

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Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

Autor: Ming K. Lee, C. Pennil, Sunday M. Stray, Anneka Wickramanayake, Wendy Roeb, Rochelle L. Garcia, Anne M. Thornton, Elizabeth M. Swisher, Kathryn P. Pennington, Mary Claire King, Tom Walsh, Silvia Casadei, Barbara M. Norquist, Kathy Agnew, Alexander Nord

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 108(44)

Inherited loss-of-function mutations in BRCA1 and BRCA2 and other tumor suppressor genes predispose to ovarian carcinomas, but the overall burden of disease due to inherited mutations is not known. Using targeted capture and massively parallel genomi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00fe4bc903218882b202fdf7ae80e0af
https://pubmed.ncbi.nlm.nih.gov/22006311

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Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer

Autor: John A. Stamatoyannopoulos, Barbara M. Norquist, Sunday M. Stray, Tom Walsh, Silvia Casadei, Jessica B. Mandell, Ming K. Lee, Mary Claire King

Publikováno v: Cancer research. 71(6)

Inherited mutations in the BRCA2-interacting protein PALB2 are known to be associated with increased risks of developing breast cancer. To evaluate the contribution of PALB2 to familial breast cancer in the United States, we sequenced the coding sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0950c1d260215fa2afab797205a4a546
https://pubmed.ncbi.nlm.nih.gov/21285249

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Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Autor: Ming K. Lee, Mary Claire King, C. Pennil, Alexander Nord, Tom Walsh, Silvia Casadei, Sunday M. Stray, Jessica B. Mandell, Anne M. Thornton, Elizabeth M. Swisher

Inherited loss-of-function mutations in the tumor suppressor genes BRCA1 , BRCA2 , and multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer-associated inherited mutations in these genes are collectively quite common,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::461cf5e727d6f849862120bf18fd0669
https://europepmc.org/articles/PMC2906584/

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Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

Autor: Sunday M. Stray, Tom Walsh, Jake Higgins, Alexander Nord, Mary Claire King, Karen B. Avraham, Diane E. Dickel, Carl Baker, Kristen E. Lewis, Amal Abu Rayyan, David Gurwitz, Moien Kanaan, Ming K. Lee, Hashem Shahin, James Thompson

Publikováno v: European journal of human genetics : EJHG. 18(4)

In communities with high rates of consanguinity and consequently high prevalence of recessive phenotypes, homozygosity mapping with SNP arrays is an effective approach for gene discovery. In 20 Palestinian kindreds with prelingual nonsyndromic hearin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27757a0e3614c2aa5edd5b7be0ce0268
https://pubmed.ncbi.nlm.nih.gov/19888295

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