Zobrazeno 1 - 10
of 109
pro vyhledávání: '"Benjamin W, Darbro"'
Autor:
Roberth Anthony Rojas Chávez, Mohammad Fili, Changze Han, Syed A Rahman, Isaiah G L Bicar, Sullivan Gregory, Annika Helverson, Guiping Hu, Benjamin W Darbro, Jishnu Das, Grant D Brown, Hillel Haim
Publikováno v:
PLoS Computational Biology, Vol 20, Iss 6, p e1012215 (2024)
New sublineages of SARS-CoV-2 variants-of-concern (VOCs) continuously emerge with mutations in the spike glycoprotein. In most cases, the sublineage-defining mutations vary between the VOCs. It is unclear whether these differences reflect lineage-spe
Externí odkaz:
https://doaj.org/article/830f0adf314c4501b60e2b80d32e8389
Autor:
Nathaniel P. Mohar, Efrem M. Cox, Emily Adelizzi, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro, Lori L. Wallrath
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 9, p 4930 (2024)
Mutations in the LMNA gene-encoding A-type lamins can cause Limb–Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the proximal skeletal muscles and has a variable age of onset and disease severity. This
Externí odkaz:
https://doaj.org/article/855fde3dd0fb49638c4c44d1bd458a97
Autor:
Alyssa S. Wetzel, Benjamin W. Darbro
Publikováno v:
BMC Genomic Data, Vol 23, Iss 1, Pp 1-3 (2022)
Abstract Objective The phenotypic spectrum of human microdeletion and microduplication syndromes (MMS) is heterogeneous but often involves intellectual disability, autism spectrum disorders, dysmorphic features and/or multiple congenital anomalies. W
Externí odkaz:
https://doaj.org/article/11d5a9290fc4459481bcf3b716e9e31c
Autor:
Courtney A. Kaemmer, Shaikamjad Umesalma, Chandra K. Maharjan, Devon L. Moose, Goutham Narla, Sarah L. Mott, Gideon K. D. Zamba, Patrick Breheny, Benjamin W. Darbro, Andrew M. Bellizzi, Michael D. Henry, Dawn E. Quelle
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Pancreatic neuroendocrine neoplasms (pNENs) are slow growing cancers of increasing incidence that lack effective treatments once they become metastatic. Unfortunately, nearly half of pNEN patients present with metastatic liver tumors at diag
Externí odkaz:
https://doaj.org/article/ae2055035fc14c58a5dbf133596a14d9
Autor:
Joanne M. Hildebrand, Maria Kauppi, Ian J. Majewski, Zikou Liu, Allison J. Cox, Sanae Miyake, Emma J. Petrie, Michael A. Silk, Zhixiu Li, Maria C. Tanzer, Gabriela Brumatti, Samuel N. Young, Cathrine Hall, Sarah E. Garnish, Jason Corbin, Michael D. Stutz, Ladina Di Rago, Pradnya Gangatirkar, Emma C. Josefsson, Kristin Rigbye, Holly Anderton, James A. Rickard, Anne Tripaydonis, Julie Sheridan, Thomas S. Scerri, Victoria E. Jackson, Peter E. Czabotar, Jian-Guo Zhang, Leila Varghese, Cody C. Allison, Marc Pellegrini, Gillian M. Tannahill, Esme C. Hatchell, Tracy A. Willson, Dina Stockwell, Carolyn A. de Graaf, Janelle Collinge, Adrienne Hilton, Natasha Silke, Sukhdeep K. Spall, Diep Chau, Vicki Athanasopoulos, Donald Metcalf, Ronald M. Laxer, Alexander G. Bassuk, Benjamin W. Darbro, Maria A. Fiatarone Singh, Nicole Vlahovich, David Hughes, Maria Kozlovskaia, David B. Ascher, Klaus Warnatz, Nils Venhoff, Jens Thiel, Christine Biben, Stefan Blum, John Reveille, Michael S. Hildebrand, Carola G. Vinuesa, Pamela McCombe, Matthew A. Brown, Benjamin T. Kile, Catriona McLean, Melanie Bahlo, Seth L. Masters, Hiroyasu Nakano, Polly J. Ferguson, James M. Murphy, Warren S. Alexander, John Silke
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Necroptosis is a regulated form of inflammatory cell death driven by activated MLKL. Here, the authors identify a mutation in the brace region that confers constitutive activation, leading to lethal inflammation in homozygous mutant mice and providin
Externí odkaz:
https://doaj.org/article/eb684694de314067aac5b53c9a7c86cd
Publikováno v:
Clinical Case Reports, Vol 7, Iss 12, Pp 2393-2397 (2019)
Abstract This report highlights the clinical features seen in duplication of 8q22.1q23.1 inherited from balanced father. It stresses the importance of obtaining a karyotype to identify the location of a large copy number variant for accurate recurren
Externí odkaz:
https://doaj.org/article/41f1222f8f2047c0be5d14dad6e99d46
Publikováno v:
Data in Brief, Vol 39, Iss , Pp 107578- (2021)
Paraneoplastic syndromes are rare conditions associated with characteristic autoantibodies produced by malignancy, although similar autoantibodies and clinical presentations may occur in the absence of any neoplasm. Testing for paraneoplastic syndrom
Externí odkaz:
https://doaj.org/article/5e6e9eba705848c1821f3d4e0a3e81f9
Publikováno v:
Human Genetics. 142:523-530
Turner syndrome (TS) is a chromosomal disorder caused by complete or partial loss of the second sex chromosome and exhibits phenotypic heterogeneity, even after accounting for mosaicism and karyotypic variation. Congenital heart defects (CHD) are fou
Autor:
Catherina T. Pinnaro, Travis Henry, Heather J. Major, Mrutyunjaya Parida, Lucy E. DesJardin, John R. Manak, Benjamin W. Darbro
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background The 22q11.2 deletion syndrome (22q11.2DS) is the most common contiguous microdeletion affecting humans and exhibits extreme phenotypic heterogeneity. Patients can manifest any combination of comorbidities including congenital hear
Externí odkaz:
https://doaj.org/article/6abb37a2a9404125b323502b3f811636
Autor:
Chandra K. Maharjan, Shaikamjad Umesalma, Courtney A. Kaemmer, Viviane P. Muniz, Casey Bauchle, Sarah L. Mott, K. D. Zamba, Patrick Breheny, Mariah R. Leidinger, Benjamin W. Darbro, Samuel B. Stephens, David K. Meyerholz, Dawn E. Quelle
Publikováno v:
Biomedicines, Vol 9, Iss 6, p 633 (2021)
Pancreatic neuroendocrine tumors (pNETs) are difficult-to-treat neoplasms whose incidence is rising. Greater understanding of pNET pathogenesis is needed to identify new biomarkers and targets for improved therapy. RABL6A, a novel oncogenic GTPase, i
Externí odkaz:
https://doaj.org/article/0be6e6f7c96143f89dfeb782deeff057