Search Results - "Martin, Betty K."

Synthetic viability by BRCA2 and PARP1/ARTD1 deficiencies by Ding, Xia, Chaudhuri, Arnab Ray, Callen, Elsa, Pang, Yan, Biswas, Kajal, Klarmann, Kimberly D., Martin, Betty K., Burkett, Sandra, Cleveland, Linda, Stauffer, Stacey, Sullivan, Teresa, Dewan, Aashish, Marks, Hanna, Tubbs, Anthony T., Wong, Nancy, Buehler, Eugen, Akagi, Keiko, Martin, Scott E., Keller, Jonathan R., Nussenzweig, André, Sharan, Shyam K.

“…Poly (ADP-ribose) polymerase (PARP) inhibitor (PARPi) olaparib has been approved for treatment of advanced ovarian cancer associated with BRCA1 and BRCA2…”
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Growth factor dependency in mammary organoids regulates ductal morphogenesis during organ regeneration by Sahu, Sounak, Albaugh, Mary E., Martin, Betty K., Patel, Nimit L., Riffle, Lisa, Mackem, Susan, Kalen, Joseph D., Sharan, Shyam K.

“…Signaling pathways play an important role in cell fate determination in stem cells and regulate a plethora of developmental programs, the dysregulation of…”
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BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage by Biswas, Kajal, Philip, Subha, Yadav, Aditya, Martin, Betty K., Burkett, Sandra, Singh, Vaibhav, Babbar, Anav, North, Susan Lynn, Chang, Suhwan, Sharan, Shyam K.

“…BRCA2 is essential for maintaining genomic integrity. BRCA2-deficient primary cells are either not viable or exhibit severe proliferation defects. Yet, BRCA2…”
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BRCA2-DSS1 interaction is dispensable for RAD51 recruitment at replication-induced and meiotic DNA double strand breaks by Mishra, Arun Prakash, Hartford, Suzanne A., Sahu, Sounak, Klarmann, Kimberly, Chittela, Rajani Kant, Biswas, Kajal, Jeon, Albert B., Martin, Betty K., Burkett, Sandra, Southon, Eileen, Reid, Susan, Albaugh, Mary E., Karim, Baktiar, Tessarollo, Lino, Keller, Jonathan R., Sharan, Shyam K.

“…The interaction between tumor suppressor BRCA2 and DSS1 is essential for RAD51 recruitment and repair of DNA double stand breaks (DSBs) by homologous…”
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Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant by Mishra, Arun Prakash, Hartford, Suzanne, Chittela, Rajani Kant, Sahu, Sounak, Kharat, Suhas S., Alvaro-Aranda, Lucia, Contreras-Perez, Aida, Sullivan, Teresa, Martin, Betty K., Albaugh, Mary, Southon, Eileen, Burkett, Sandra, Karim, Baktiar, Carreira, Aura, Tessarollo, Lino, Sharan, Shyam K.

“…Pathogenic variants in BRCA2 are known to significantly increase the lifetime risk of developing breast and ovarian cancers. Sequencing-based genetic testing…”
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Loss of Rad51c Leads to Embryonic Lethality and Modulation of Trp53-Dependent Tumorigenesis in Mice by KUZNETSOV, Sergey G, HAINES, Diana C, MARTIN, Betty K, SHARAN, Shyam K

“…RecA/Rad51 protein family members (Rad51, Rad51b, Rad51c, Rad51d, Xrcc2, and Xrcc3) are essential for DNA repair by homologous recombination, and their role in…”
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A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing by Biswas, Kajal, Couillard, Martin, Cavallone, Luca, Burkett, Sandra, Stauffer, Stacey, Martin, Betty K., Southon, Eileen, Reid, Susan, Plona, Teri M., Baugher, Ryan N., Mellott, Stephanie D., Pike, Kristen M., Albaugh, Mary E., Maedler-Kron, Chelsea, Hamel, Nancy, Tessarollo, Lino, Marcus, Victoria, Foulkes, William D., Sharan, Shyam K.

“…Hereditary non-polyposis colorectal cancer, now known as Lynch syndrome (LS) is one of the most common cancer predisposition syndromes and is caused by…”
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BRCA2 deficiency in mice leads to meiotic impairment and infertility by Sharan, Shyam K, Pyle, April, Coppola, Vincenzo, Babus, Janice, Swaminathan, Srividya, Benedict, Jamie, Swing, Deborah, Martin, Betty K, Tessarollo, Lino, Evans, Janice P, Flaws, Jodi A, Handel, Mary Ann

“…The role of Brca2 in gametogenesis has been obscure because of embryonic lethality of the knockout mice. We generated Brca2- null mice carrying a human BAC…”
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Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations by Chang, Suhwan, Biswas, Kajal, Martin, Betty K, Stauffer, Stacey, Sharan, Shyam K

“…To date, inheritance of a mutant BRCA1 or BRCA2 gene is the best-established indicator of an increased risk of developing breast cancer. Sequence analysis of…”
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Loss of oncogenic miR-155 in tumor cells promotes tumor growth by enhancing C/EBP-β-mediated MDSC infiltration by Kim, Sinae, Song, Jin Hoi, Kim, Seokho, Qu, Peng, Martin, Betty K, Sehareen, Waheed S, Haines, Diana C, Lin, Pengnian C, Sharan, Shyam K, Chang, Suhwan

“…The oncogenic role of microRNA-155 (miR-155) in leukemia is well established but its role in other cancers, especially breast cancer, is gradually emerging. In…”
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Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay by BISWAS, Kajal, DAS, Ranabir, PRUSS, Dmitry, BOWLES, Karla R, ROA, Benjamin B, HUNTER, Neil, TESSAROLLO, Lino, WENSTRUP, Richard J, BYRD, R. Andrew, SHARAN, Shyam K, EGGINGTON, Julie M, QIAO, Huanyu, NORTH, Susan L, STAUFFER, Stacey, BURKETT, Sandra S, MARTIN, Betty K, SOUTHON, Eileen, SIZEMORE, Scott C

“…Single-nucleotide substitutions and small in-frame insertions or deletions identified in human breast cancer susceptibility genes BRCA1 and BRCA2 are…”
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Survival of BRCA2-Deficient Cells Is Promoted by GIPC3 , a Novel Genetic Interactor of BRCA2 by Ding, Xia, Philip, Subha, Martin, Betty K, Pang, Yan, Burkett, Sandra, Swing, Deborah A, Pamala, Chinmayi, Ritt, Daniel A, Zhou, Ming, Morrison, Deborah K, Ji, Xinhua, Sharan, Shyam K

“…loss-of-heterozygosity (LOH) is frequently observed in -mutated tumors, but its biallelic loss causes embryonic lethality in mice and inhibits proliferation of…”
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BRCA2 minor transcript lacking exons 4-7 supports viability in mice and may account for survival of humans with a pathogenic biallelic mutation by Thirthagiri, Eswary, Klarmann, Kimberly D, Shukla, Anil K, Southon, Eileen, Biswas, Kajal, Martin, Betty K, North, Susan Lynn, Magidson, Valentin, Burkett, Sandra, Haines, Diana C, Noer, Kathleen, Matthai, Roberta, Tessarollo, Lino, Loncarek, Jadranka, Keller, Jonathan R, Sharan, Shyam K

“…The breast cancer gene, BRCA2, is essential for viability, yet patients with Fanconi anemia-D1 subtype are born alive with biallelic mutations in this gene…”
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RAD51C deficiency in mice results in early prophase I arrest in males and sister chromatid separation at metaphase II in females by Kuznetsov, Sergey, Pellegrini, Manuela, Shuda, Kristy, Fernandez-Capetillo, Oscar, Liu, Yilun, Martin, Betty K, Burkett, Sandra, Southon, Eileen, Pati, Debananda, Tessarollo, Lino, West, Stephen C, Donovan, Peter J, Nussenzweig, Andre, Sharan, Shyam K

“…RAD51C is a member of the RecA/RAD51 protein family, which is known to play an important role in DNA repair by homologous recombination. In mice, it is…”
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Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155 by Chang, Suhwan, Wang, Rui-Hong, Akagi, Keiko, Kim, Kyung-Ae, Martin, Betty K, Cavallone, Luca, Haines, Diana C, Basik, Mark, Mai, Phuong, Poggi, Elizabeth, Isaacs, Claudine, Looi, Lai M, Mun, Kein S, Greene, Mark H, Byers, Stephen W, Teo, Soo H, Deng, Chu-Xia, Sharan, Shyam K

“…BRCA1 loss of function is considered to promote tumorigenesis through impairment of the protein's role in DNA damage repair. By studying BRCA1 mutations that…”
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Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155 by Chang, Suhwan, Wang, Rui-hong, Akagi, Keiko, Kim, Kyung-ae, Martin, Betty K, Cavallone, Luca, Haines, Diana C, Basik, Mark, Mai, Phuong, Poggi, Elizabeth, Isaacs, Claudine, Looi, Lai M, Mun, Kein S, Greene, Mark H, Byers, Stephen W, Teo, Soo H, Deng, Chu-xia, Sharan, Shyam K

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Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model by Yang, Yongping, Swaminathan, Srividya, Martin, Betty K., Sharan, Shyam K.

“…Numerous missense mutations in human BRCA1 gene have been linked to predisposition to breast cancer. However, the functional significance of the majority of…”
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Erratum: Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155 by Chang, Suhwan, Wang, Rui-Hong, Akagi, Keiko, Kim, Kyung-Ae, Martin, Betty K, Cavallone, Luca, Haines, Diana C, Basik, Mark, Mai, Phuong, Poggi, Elizabeth, Isaacs, Claudine, Looi, Lai M, Mun, Kein S, Greene, Mark H, Byers, Stephen W, Teo, Soo H, Deng, Chu-Xia, Sharan, Shyam K

“…Nat. Med. 17, 1275–1282 (2011); published online 25 September 2011; corrected after print 7 November 2011 In the version of this article initially published,…”
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