Zobrazeno 1 - 10
of 297
pro vyhledávání: '"James, Maher"'
Autor:
Elizabeth P. Lewis, Fatimah Al Khazal, Brandon Wilbanks, Naomi M. Gades, Patricia Ortega‐Sáenz, José López‐Barneo, Igor Adameyko, L. James Maher III
Publikováno v:
FASEB BioAdvances, Vol 6, Iss 9, Pp 327-336 (2024)
Abstract In humans, loss of heterozygosity for defective alleles of any of the four subunits of mitochondrial tricarboxylic acid cycle enzyme succinate dehydrogenase (SDH, also Complex II of the electron transport chain) can lead to paraganglioma tum
Externí odkaz:
https://doaj.org/article/29cd999d7e6e4937bf53906a8080350f
Autor:
Jenelle Rolli, Keenan Pearson, Brandon Wilbanks, Sybil C.L. Hrstka, Andrew P. Minotti, Lorenz Studer, Arthur E. Warrington, Nathan P. Staff, L. James Maher, III
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102392- (2024)
There is an urgent need for agents that promote health and regeneration of cells and tissues, specifically to treat diseases of the aging nervous system. Age-associated nervous system degeneration and various diseases are driven by many different bio
Externí odkaz:
https://doaj.org/article/50636c7a7e084603b44902c8caf9abb9
Autor:
Donglin Ding, Alexandra M. Blee, Jianong Zhang, Yunqian Pan, Nicole A. Becker, L. James Maher, Rafael Jimenez, Liguo Wang, Haojie Huang
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Abstract Whether TMPRSS2-ERG fusion and TP53 gene alteration coordinately promote prostate cancer (PCa) remains unclear. Here we demonstrate that TMPRSS2-ERG fusion and TP53 mutation / deletion co-occur in PCa patient specimens and this co-occurrence
Externí odkaz:
https://doaj.org/article/397f26f685f14e35b502865eb0a5564e
Autor:
Madeline Snipes, Stephanie Stokes, Amy Vidalin, Lee D. Moore, Natalia Schlabritz-Lutsevich, James Maher
Publikováno v:
Case Reports in Genetics, Vol 2024 (2024)
Discordance between the genetic sex and phenotype seen on ultrasound can identify disorders of sexual development (DSD) that previously escaped detection until puberty. We describe a 46, XY disorder of sexual differentiation caused by a rare mutation
Externí odkaz:
https://doaj.org/article/98ef48f08ec64c79b69aa97ec126ae60
Publikováno v:
Endocrine Oncology, Vol 3, Iss 1, Pp 1-9 (2023)
Mutations that predispose to familial pheochromocytoma and paraganglioma include inherited variants in the four genes (SDHA, SDHB, SDHC and SDHD) encoding subunits of succinate dehydrogenase (SDH), an enzyme of the mitochondrial tricarboxylic acid cy
Externí odkaz:
https://doaj.org/article/6d3f81a6cca741ac959a69417441ad91
Autor:
AnneMarie Clarke, Andrew W. Byrne, James Maher, Eoin Ryan, Fidelma Farrell, Catherine McSweeney, Damien Barrett
Publikováno v:
Frontiers in Veterinary Science, Vol 9 (2022)
Bovith recene tuberculosis (bTB) continues to be a pathogen of concern in several countries globally. Analysis of areas that have higher incidences of bTB outbreaks has demonstrated how risk is not equally distributed, and local data collection, anal
Externí odkaz:
https://doaj.org/article/0c1b0140ff3b4eb2ae6cc0fc066d351e
Autor:
John A. Smestad, L. James Maher
Publikováno v:
BMC Cancer, Vol 19, Iss 1, Pp 1-19 (2019)
Abstract Background Succinate dehydrogenase (SDH) loss and mastermind-like 3 (MAML3) translocation are two clinically important genetic alterations that correlate with increased rates of metastasis in subtypes of human paraganglioma and pheochromocyt
Externí odkaz:
https://doaj.org/article/582280d42a194f5bad97b53b0f35b1a3
Autor:
Robin M. Heider, John A. Smestad, Hernan Nicolas Lemus, Brandon Wilbanks, Arthur E. Warrington, Justin P. Peters, Moses Rodriguez, L. James Maher, III
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 9, Iss , Pp 270-277 (2018)
Multiple sclerosis (MS) is a debilitating disease for which regenerative therapies are sought. We have previously described human antibodies and DNA aptamer-streptavidin conjugates that promote remyelination after systemic injection into mice infecte
Externí odkaz:
https://doaj.org/article/af9769126cd84bf4b41483b4800c8495
Publikováno v:
iScience, Vol 2, Iss , Pp 63-75 (2018)
Summary: Succinylation is a post-translational protein acylation modification that converts the cationic lysine side chain to an anion with large potential impacts on protein structure and function. Here we characterize the epigenome-wide distributio
Externí odkaz:
https://doaj.org/article/fc66aeb94f1740bead8cbe0a9f9ea618
Publikováno v:
Journal of Vocational Education & Training. :1-23
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2ed8709b21af227719bf2bcdd705e62
https://doi.org/10.1080/13636820.2022.2079093
https://doi.org/10.1080/13636820.2022.2079093