Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Brett C Baggett"'
Autor:
Brett C Baggett, Kevin R Murphy, Elif Sengun, Eric Mi, Yueming Cao, Nilufer N Turan, Yichun Lu, Lorraine Schofield, Tae Yun Kim, Anatoli Y Kabakov, Peter Bronk, Zhilin Qu, Patrizia Camelliti, Patrycja Dubielecka, Dmitry Terentyev, Federica del Monte, Bum-Rak Choi, John Sedivy, Gideon Koren
Publikováno v:
eLife, Vol 12 (2023)
Progressive tissue remodeling after myocardial infarction (MI) promotes cardiac arrhythmias. This process is well studied in young animals, but little is known about pro-arrhythmic changes in aged animals. Senescent cells accumulate with age and acce
Externí odkaz:
https://doaj.org/article/d202d60827684d86801b098db8759f70
Autor:
Ian M. Campbell, Sung Sup Park, Soo Hyun Seo, Susanne Stemmler, John K. Fink, Nichole D. Hein, Marjorie Withers, Moon Woo Seong, Wendy E. Goodwin, Bo Yuan, Pawel Stankiewicz, Izabela Karbassi, Brett C. Baggett, Paolo Moretti, Christine R. Beck, Sat Dev Batish, James R. Lupski, María Jesús Sobrido, Philip M. Boone, Jennifer Scull, Christine J. Shaw, Andrés Ordóñez-Ugalde, Beatriz Quintáns
Publikováno v:
RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)
Servizo Galego de Saúde (SERGAS)
Intragenic copy-number variants (CNVs) contribute to the allelic spectrum of both Mendelian and complex disorders. Although pathogenic deletions and duplications in SPAST (mutations in which cause autosomal-dominant spastic paraplegia 4 [SPG4]) have
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6838397a4795f11e8e086339dd2d7b47
http://hdl.handle.net/20.500.11940/4512
http://hdl.handle.net/20.500.11940/4512
Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles
Autor:
Chad A. Shaw, Ian M. Campbell, James R. Lupski, Philip M. Boone, Sau Wai Cheung, Zachry T. Soens, Pawel Stankiewicz, Seema R. Lalani, Arthur L. Beaudet, Weimin Bi, Patricia Hixson, Ankita Patel, Brett C. Baggett, Mitchell Rao
Over 1200 recessive disease genes have been described in humans. The prevalence, allelic architecture, and per-genome load of pathogenic alleles in these genes remain to be fully elucidated, as does the contribution of DNA copy-number variants (CNVs)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a96f6e8513faf1697cf08691c142f692
https://europepmc.org/articles/PMC3759716/
https://europepmc.org/articles/PMC3759716/