Søgeresultater - Dustin L. Gable
- Showing 1 - 7 results of 7
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<i>ZCCHC8</i>, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation af Dustin L. Gable, Valeriya Gaysinskaya, Christine C. Atik, C. Conover Talbot, Byunghak Kang, Susan E. Stanley, Elizabeth Pugh, Nuria Amat-Codina, Kara M. Schenk, Murat O. Arcasoy, Cory Brayton, Liliana Florea, Mary Armanios
Udgivet 2019Artigo -
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Short telomere syndromes cause a primary T cell immunodeficiency af Christa L. Wagner, Vidya Sagar Hanumanthu, C. Conover Talbot, Roshini S. Abraham, David Hamm, Dustin L. Gable, Christopher G. Kanakry, Carolyn Applegate, Janet D. Siliciano, J. Brooks Jackson, Stephen Desiderio, Jonathan K. Alder, Leo Luznik, Mary Armanios
Udgivet 2018Artigo -
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T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers af Kristen E. Schratz, Diane A. Flasch, Christine C. Atik, Zoe L. Cosner, Amanda L. Blackford, Wentao Yang, Dustin L. Gable, Paz J. Vellanki, Zhimin Xiang, Valeriya Gaysinskaya, Robert H. Vonderheide, Lisa Rooper, Jinghui Zhang, Mary Armanios
Udgivet 2023Artigo -
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Familial Clonal Hematopoiesis in a Long Telomere Syndrome af Emily A. DeBoy, Michael G. Tassia, Kristen E. Schratz, Stephanie M. Yan, Zoe L. Cosner, E. McNally, Dustin L. Gable, Zhimin Xiang, David B. Lombard, Emmanuel S. Antonarakis, Christopher D. Gocke, Rajiv C. McCoy, Mary Armanios
Udgivet 2023Artigo -
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Loss-of-function mutations in the RNA biogenesis factor <i>NAF1</i> predispose to pulmonary fibrosis–emphysema af Susan E. Stanley, Dustin L. Gable, Christa L. Wagner, Thomas M. Carlile, Vidya Sagar Hanumanthu, Joshua D. Podlevsky, Sara E. Khalil, Amy E. DeZern, María F. Rojas-Durán, Carolyn Applegate, Jonathan K. Alder, Erin M. Parry, Wendy V. Gilbert, Mary Armanios
Udgivet 2016Artigo -
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Mendelian etiologies identified with whole exome sequencing in cerebral palsy af Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David L. Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian D. Snyder, Scellig Stone, Ana Ubeda, Colyn J. Watkins, Charles B. Berde, Jeffrey Bolton, Catherine A. Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O’Donnell‐Luria, Alex R. Paciorkowski, Anna Maria Pinto, John Pugh, Lance H. Rodan, Eugene Roe, Lindsay C. Swanson, Bo Zhang, Michael C. Kruer, Mustafa Şahin, Annapurna Poduri, Siddharth Srivastava
Udgivet 2022Artigo
Søgeredskaber:
Relaterede emner
Biology
Gene
Genetics
Cancer research
Telomerase
Telomere
Medicine
Mutation
DNA
Immunology
Cancer
Cell biology
DNA damage
Immune system
Immunodeficiency
Internal medicine
Molecular biology
Non-coding RNA
Pathology
Phenotype
RNA
Adenocarcinoma
Apoptosis
Bioinformatics
Cellular Aging
Chromosome
Chromosome instability
Chromothripsis
Cohort
DNA repair