Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Timothy Nottoli"'
Autor:
Acadia A. Kocher, Emily V. Dutrow, Severin Uebbing, Kristina M. Yim, María F. Rosales Larios, Marybeth Baumgartner, Timothy Nottoli, James P. Noonan
Publikováno v:
Genome Biology, Vol 25, Iss 1, Pp 1-34 (2024)
Abstract Background Genetic changes that modify the function of transcriptional enhancers have been linked to the evolution of biological diversity across species. Multiple studies have focused on the role of nucleotide substitutions, transposition,
Externí odkaz:
https://doaj.org/article/ffb90c12658b457e903bef5f025646d6
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Le Thi Hao, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Quentin J. Moyer, Evan Dennis, Emre Kiziltug, Adam J. Kundishora, Tyrone DeSpenza, Ana B. W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)
Abstract To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human ce
Externí odkaz:
https://doaj.org/article/3ca7b90963454521ac767ab9c7496a24
Autor:
Gabriel Stölting, Hoang An Dinh, Marina Volkert, Nicole Hellmig, Julia Schewe, Luise Hennicke, Eric Seidel, Herbert Oberacher, Junhui Zhang, Richard P. Lifton, Iris Urban, Melissa Long, Marion Rivalan, Timothy Nottoli, Ute I. Scholl
Publikováno v:
JCI Insight, Vol 8, Iss 20 (2023)
Somatic gain-of-function mutations in the L-type calcium channel CaV1.3 (CACNA1D gene) cause adrenal aldosterone-producing adenomas and micronodules. De novo germline mutations are found in a syndrome of primary aldosteronism, seizures, and neurologi
Externí odkaz:
https://doaj.org/article/0f1408c346d041e89ff1b8c5e1468840
Autor:
Rithy Meas, Joanne Nititham, Kimberly E. Taylor, Stephen Maher, Kaylyn Clairmont, Kelly E. W. Carufe, Michael Kashgarian, Timothy Nottoli, Ana Cheong, Zachary D. Nagel, Patrick M. Gaffney, Lindsey A. Criswell, Joann B. Sweasy
Publikováno v:
ACR Open Rheumatology, Vol 4, Iss 9, Pp 760-770 (2022)
Objective To determine if single‐nucleotide polymorphisms (SNPs) in DNA repair genes are enriched in individuals with systemic lupus erythematosus (SLE) and if they are sufficient to confer a disease phenotype in a mouse model. Methods Human exome
Externí odkaz:
https://doaj.org/article/97dbb8d80fed4e8691a4b02bf4ca46c8
Autor:
Emily V. Dutrow, Deena Emera, Kristina Yim, Severin Uebbing, Acadia A. Kocher, Martina Krenzer, Timothy Nottoli, Daniel B. Burkhardt, Smita Krishnaswamy, Angeliki Louvi, James P. Noonan
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
Human Accelerated Regions (HARs) are prime candidates for driving the evolution of uniquely human traits. Using humanized mice, the authors show how one HAR alters gene expression during embryonic development, yielding insight into HAR function.
Externí odkaz:
https://doaj.org/article/1b2726ac798e42daba34db9c56f86f99
Autor:
Md Kaimul Ahsan, Diego Carlos dos Reis, Andrea Barbieri, Kaelyn D. Sumigray, Timothy Nottoli, Pedro J. Salas, Nadia A. Ameen
Publikováno v:
Journal of Clinical Medicine, Vol 11, Iss 14, p 4179 (2022)
Microvillus inclusion disease (MVID), a lethal congenital diarrheal disease, results from loss of function mutations in the apical actin motor myosin VB (MYO5B). How loss of MYO5B leads to both malabsorption and fluid secretion is not well understood
Externí odkaz:
https://doaj.org/article/8af7384f89f04cb28aa6374cbdf98ee3
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e58585 (2013)
The fidelity of chromosomal segregation during cell division is important to maintain chromosomal stability in order to prevent cancer and birth defects. Although several spindle-associated molecular motors have been shown to be essential for cell di
Externí odkaz:
https://doaj.org/article/c1e724821c8345d29ccddfd364cb595c
Autor:
Acadia A. Kocher, Emily V. Dutrow, Severin Uebbing, Kristina M. Yim, María F. Rosales Larios, Marybeth Baumgartner, Timothy Nottoli, James P. Noonan
Genetic changes that modify the function of transcriptional enhancers have been linked to the evolution of biological diversity across species. Multiple studies have focused on the role of nucleotide substitutions, transposition, and insertions and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2647a70099b2a0adeae02c9d7e32e8b
https://doi.org/10.1101/2023.05.09.540063
https://doi.org/10.1101/2023.05.09.540063
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Hao Thi Le, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Adam J. Kundishora, Tyrone DeSpenza, Ana B.W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
bioRxiv
To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and severe congenital brain arteriovenous malformation, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human cerebrovasculature s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee1c52b11848fed120127d869285bb3
https://doi.org/10.1101/2023.03.18.532837
https://doi.org/10.1101/2023.03.18.532837
Autor:
Md Kaimul Ahsan, Diego Carlos Reis, Andrea Barbieri, Kaelyn Sumigray, Timothy Nottoli, Pedro J. Salas, Nadia A. Ameen
Publikováno v:
The FASEB Journal. 36