Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Payal P, Khincha"'
Autor:
Karin J. Brockman, Mone’t B. Thompson, Lisa Mirabello, Sharon A. Savage, Ashkan Malayeri, Jessica N. Hatton, Payal P. Khincha
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
IntroductionLi-Fraumeni syndrome (LFS) is a hereditary cancer predisposition syndrome primarily caused by germline TP53 pathogenic/likely pathogenic (P/LP) variants. Soft tissue and bone sarcomas are among the most frequently occurring of the many LF
Externí odkaz:
https://doaj.org/article/cc478a35883c40358f9837d97b2328da
Autor:
Kelvin C. de Andrade, Natasha T. Strande, Jung Kim, Jeremy S. Haley, Jessica N. Hatton, Megan N. Frone, Payal P. Khincha, Gretchen M. Thone, Uyenlinh L. Mirshahi, Cynthia Schneider, Heena Desai, James T. Dove, Diane T. Smelser, Arnold J. Levine, Kara N. Maxwell, Douglas R. Stewart, David J. Carey, Sharon A. Savage
Publikováno v:
HGG Advances, Vol 5, Iss 1, Pp 100242- (2024)
Summary: Pathogenic or likely pathogenic (P/LP) germline TP53 variants are the primary cause of Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder characterized by early-onset cancers. The population prevalence of P/LP germline T
Externí odkaz:
https://doaj.org/article/addc5e489bb345e3861d80415655e2ce
Autor:
Mone't B. Thompson, Daniel Muldoon, Kelvin C. de Andrade, Neelam Giri, Blanche P. Alter, Sharon A. Savage, Robert D. Shamburek, Payal P. Khincha
Publikováno v:
EBioMedicine, Vol 75, Iss , Pp 103760- (2022)
Summary: Background: Dyskeratosis congenita (DC) is a telomere biology disorder associated with high rates of bone marrow failure (BMF) and other medical complications. Oral androgens are successfully used to treat BMF in DC but often have significan
Externí odkaz:
https://doaj.org/article/f464a2a5b5ff4779ba348bedeb5d5091
Autor:
Vallijah Subasri, Nicholas Light, Nisha Kanwar, Jack Brzezinski, Ping Luo, Jordan R. Hansford, Elizabeth Cairney, Carol Portwine, Christine Elser, Jonathan L. Finlay, Kim E. Nichols, Noa Alon, Ledia Brunga, Jo Anson, Wendy Kohlmann, Kelvin C. de Andrade, Payal P. Khincha, Sharon A. Savage, Joshua D. Schiffman, Rosanna Weksberg, Trevor J. Pugh, Anita Villani, Adam Shlien, Anna Goldenberg, David Malkin
Publikováno v:
Cancer Research Communications. 3:738-754
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer-predisposition disorder. Approximately 70% of individuals who fit the clinical definition of LFS harbor a pathogenic germline variant in the TP53 tumor suppressor gene. However, the remaining
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2cfcb92cc5dceee4f2b58863ddd04ca7
https://doi.org/10.1158/2767-9764.crc-22-0402
https://doi.org/10.1158/2767-9764.crc-22-0402
Autor:
Allison Werner‐Lin, Rowan Forbes Shepherd, Camella J. Rising, Ashley S. Thompson, Chloe Huelsnitz, Catherine Wilsnack, Patrick Boyd, Alix G. Sleight, Sadie Hutson, Payal P. Khincha
Publikováno v:
Psycho-Oncology. 32:375-382
Adolescents and young adult (AYA) cancer survivors face unique medical and psychosocial sequalae, including chronic health conditions, late effects of treatment and fear of recurrence. The meaning of cancer survivorship may be further complicated for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc21f733757c1641817273e4596d812c
https://doi.org/10.1002/pon.6080
https://doi.org/10.1002/pon.6080
Autor:
Payal P. Khincha, Alison A. Bertuch, Shahinaz M. Gadalla, Neelam Giri, Blanche P. Alter, Sharon A. Savage
Publikováno v:
Blood Advances, Vol 2, Iss 11, Pp 1243-1249 (2018)
Abstract: Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome and the prototypic telomere biology disorder (TBD). Leukocyte telomere length (TL) less than the first percentile for age, measured by flow cytometry with in situ hybr
Externí odkaz:
https://doaj.org/article/0d9928eb7b714274bd3567f5c37cc2f2
Autor:
Camella J, Rising, Catherine, Wilsnack, Patrick, Boyd, Alix G, Sleight, Sadie P, Hutson, Payal P, Khincha, Allison, Werner-Lin
Publikováno v:
Patient Education and Counseling. 105:3259-3266
This qualitative-descriptive study explored adolescent and young adult (AYA) perspectives, experiences, and challenges with openness and closedness in family communication about Li-Fraumeni syndrome (LFS).We conducted interviews with AYAs (aged 15-39
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95c2aaf71bac38be0eb6fbbf9ef5ddc3
https://doi.org/10.1016/j.pec.2022.07.012
https://doi.org/10.1016/j.pec.2022.07.012
Autor:
David Malkin, Anna Goldenberg, Adam Shlien, Anita Villani, Trevor J. Pugh, Rosanna Weksberg, Joshua D. Schiffman, Sharon A. Savage, Payal P. Khincha, Kelvin C. de Andrade, Wendy Kohlmann, Jo Anson, Ledia Brunga, Noa Alon, Kim E. Nichols, Jonathan L. Finlay, Christine Elser, Carol Portwine, Elizabeth Cairney, Jordan R. Hansford, Ping Luo, Jack Brzezinski, Nisha Kanwar, Nicholas Light, Vallijah Subasri
Secondary constitutional epimutations in LFS. A, Concordance between enrichment scores of 931 EWAS probes found significantly associated with cancer status in the discovery cohort and the validation cohort, for both the internal (left) and external (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe4c603885d30af3f01f2f8d8bc5849
https://doi.org/10.1158/2767-9764.22726381.v1
https://doi.org/10.1158/2767-9764.22726381.v1
Autor:
David Malkin, Anna Goldenberg, Adam Shlien, Anita Villani, Trevor J. Pugh, Rosanna Weksberg, Joshua D. Schiffman, Sharon A. Savage, Payal P. Khincha, Kelvin C. de Andrade, Wendy Kohlmann, Jo Anson, Ledia Brunga, Noa Alon, Kim E. Nichols, Jonathan L. Finlay, Christine Elser, Carol Portwine, Elizabeth Cairney, Jordan R. Hansford, Ping Luo, Jack Brzezinski, Nisha Kanwar, Nicholas Light, Vallijah Subasri
Variants in cancer predisposition genes (class 1–2) in the wildtype and variant TP53 cohorts, annotated with cancer type, sex, LFS criteria, inheritance status, segregation, variant location, variant function, and zygosity
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0748856e1597c20d4f1e4e065405a3ce
https://doi.org/10.1158/2767-9764.22726354.v1
https://doi.org/10.1158/2767-9764.22726354.v1
Autor:
David Malkin, Anna Goldenberg, Adam Shlien, Anita Villani, Trevor J. Pugh, Rosanna Weksberg, Joshua D. Schiffman, Sharon A. Savage, Payal P. Khincha, Kelvin C. de Andrade, Wendy Kohlmann, Jo Anson, Ledia Brunga, Noa Alon, Kim E. Nichols, Jonathan L. Finlay, Christine Elser, Carol Portwine, Elizabeth Cairney, Jordan R. Hansford, Ping Luo, Jack Brzezinski, Nisha Kanwar, Nicholas Light, Vallijah Subasri
cisCSCE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cbc03dad17b5d4712910b8f73ed6829
https://doi.org/10.1158/2767-9764.22726360.v1
https://doi.org/10.1158/2767-9764.22726360.v1