Results 111 to 120 of about 726,285 (296)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

C34T mutation of the AMPD1 gene in an elite white runner

BMJ Case Reports
The case is reported of an elite, male, white endurance runner (28 years of age), who is one of the best non-African runners in the world despite carrying the C34T mutation in the gene (AMPD1) that encodes the skeletal muscle specific isoform of AMP deaminase, an enzyme important in muscle metabolism.
Lucía Mulas, Alejandro, Martín, Miguel Ángel, Esteve Lanao, Jonathan, San Juan, Alejandro F., Rubio, Juan Carlos, Oliván Mallén, Jesús, Arenas, Joaquín   +6 more
openaire   +8 more sources

KLK7 overexpression promotes an aggressive phenotype and facilitates peritoneal dissemination in colorectal cancer cells

FEBS Open Bio, EarlyView.
KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani, Tobias Dreyer, Meriem Naim, Rea Lo Dico, Natalia A. Ignatenko, Viktor Magdolen, Dalila Darmoul   +6 more
wiley   +1 more source

Methylenetetrahydrofolate reductase homozygous mutation in a young boy with cerebellar infarction

Pediatric Reports, 2009
Posterior circulation vascular occlusive disease in children is a rare and uncommonly reported event. Among the numerous risk factors, the methylenetetrahydrofolate reductase (MTHFR) mutation is considered to be a common genetic cause of thrombosis in ...
Alberto Spalice, Francesca Del Balzo, Francesco Massimo Perla, Enrico Properzi, Carla Carducci, Italo Antonozzi, Paola Iannetti   +6 more
doaj   +1 more source

A Shank Color Mutation in Cornell Random Bred S.C. White Leghorns

Poultry Science, 1974
Abstract A genetic variant displaying green shanks, first noted among pullets of the Cornell random bred stock has been shown to be controlled by a sex linked recessive gene “idc” at the “Id” locus affecting the deposition of melanin in the dermis of the shank skin. An allele other than “id” is suggested since most mutants with green shanks and white
openaire   +2 more sources

Mycobacterial cell division arrest and smooth‐to‐rough envelope transition using CRISPRi‐mediated genetic repression systems

FEBS Open Bio, EarlyView.
CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point, Wafaa Achache, Janïs Laudouze, Eliana Sepulveda Ramos, Mickaël Maziero, Céline Crauste, Stéphane Canaan, Pierre Santucci   +7 more
wiley   +1 more source

Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies

Frontiers in Neurology, 2019
The white matter disease spectrum is associated with many genetic diseases, including AARS2, CADASIL, ALD, and others. In this study, to determine the novel alanyl-tRNA synthetase 2 mutation implicated in white matter disease, several families with an ...
Xingao Wang, Xingao Wang, Qun Wang, Qun Wang, Qun Wang, Qun Wang, Hefei Tang, Hefei Tang, Bin Chen, Bin Chen, Xiang Dong, Songtao Niu, Songtao Niu, Shaowu Li, Yuzhi Shi, Yuzhi Shi, Wei Shan, Wei Shan, Wei Shan, Wei Shan, Zaiqiang Zhang, Zaiqiang Zhang   +21 more
doaj   +1 more source

Anticancer sensitivities and biological characteristics of HCT116 cells resistant to the selective poly(ADP‐ribose) glycohydrolase inhibitor

FEBS Open Bio, EarlyView.
We analyzed alterations of PAR metabolism‐related proteins in PARG inhibitor‐resistant HCT116RPDD cells. Although PARG levels remained unchanged, HCT116RPDD cells exhibited reduced PARP1 and ARH3 expression and elevated PAR levels. Interestingly, HCT116RPDD cells exhibited slightly elevated intracellular NAD+/NADH and ATP levels. Our findings suggest a
Kaede Tsuda, Yoko Ogino, Akira Sato
wiley   +1 more source

BMI‐1 modulation and trafficking during M phase in diffuse intrinsic pontine glioma

FEBS Open Bio, EarlyView.
The schematic illustrates BMI‐1 phosphorylation during M phase, which triggers its translocation from the nucleus to the cytoplasm. In cycling cells, BMI‐1 functions within the PRC1 complex to mediate H2A K119 monoubiquitination. Following PTC596‐induced M phase arrest, phosphorylated BMI‐1 dissociates from PRC1 and is exported to the cytoplasm via its
Banlanjo Umaru, Deepak Kumar Mishra, Shiva Senthil Kumar, Hao‐Han Pang, Brendan Devine, Komal Khan, Rachid Drissi   +6 more
wiley   +1 more source

C2α‐carbanion‐protonating glutamate discloses tradeoffs between substrate accommodation and reaction rate in actinobacterial 2‐hydroxyacyl‐CoA lyase

FEBS Open Bio, EarlyView.
Enzymes of the 2‐hydroxyacyl‐CoA lyase group catalyze the condensation of formyl‐CoA with aldehydes or ketones. Thus, by structural adaptation of active sites, practically any pharmaceutically and industrially important 2‐hydroxyacid could be biotechnologically synthesized. Combining crystal structure analysis, active site mutations and kinetic assays,
Michael Zahn, Barbara Seroka, Ryszard Lazny, Zenon Lotowski, Thore Rohwerder   +4 more
wiley   +1 more source