Results 161 to 170 of about 649,887 (338)

The genetic basis of severe combined immunodeficiency and its variants

The Application of Clinical Genetics, 2012
Diana Tasher,1,2 Ilan Dalal1,21The Pediatric Infectious and Immunology Unit, E Wolfson Medical Center, Holon, Israel; 2The Sackler School of Medicine, Tel Aviv University, Tel Aviv, IsraelAbstract: Severe combined immunodeficiency (SCID) syndromes are ...
Tasher D, Dalal I
doaj  

Outlier Detection in Mendelian Randomisation [PDF]

arXiv
Mendelian Randomisation (MR) uses genetic variants as instrumental variables to infer causal effects of exposures on an outcome. One key assumption of MR is that the genetic variants used as instrumental variables are independent of the outcome conditional on the risk factor and unobserved confounders. Violations of this assumption, i.e.
arxiv  

Duplicate Genetic Loci and Variant Froms of Malate Dehydrogenase in Chum Salmon and Rainbow Trout

, 1972
Ken-ichi Numachi, Yoshiharu Matsumiya, Ryōzō Satō   +2 more
openalex   +2 more sources

Clinical significance of stratifying prostate cancer patients through specific circulating genes

Molecular Oncology, EarlyView.
We tested a specific panel of genes representative of luminal, neuroendocrine and stem‐like cells in the blood of prostate cancer patients, showing predictive value from diagnosis to late stages of disease. This approach allows monitoring of treatment responses and outcomes at specific time points in trajectories.
Seta Derderian, Edouard Jarry, Arynne Santos, Quentin Vesval, Lucie Hamel, Rafael Sanchez‐Salas, Alexis Rompré‐Brodeur, Wassim Kassouf, Raghu Rajan, Fadi Brimo, Marie Duclos, Armen Aprikian, Simone Chevalier   +12 more
wiley   +1 more source

MET variants with activating N‐lobe mutations identified in hereditary papillary renal cell carcinomas still require ligand stimulation

Molecular Oncology, EarlyView.
MET variants in the N‐lobe of the kinase domain, found in hereditary papillary renal cell carcinoma, require ligand stimulation to promote cell transformation, in contrast to other RTK variants. This suggests that HGF expression in the microenvironment is important for tumor growth in such patients. Their sensitivity to MET inhibitors opens the way for
Célia Guérin, Audrey Vinchent, Marie Fernandes, Isabelle Damour, Agathe Laratte, Rémi Tellier, Gabriella O. Estevam, Jean‐Pascal Meneboo, Céline Villenet, Clotilde Descarpentries, James S. Fraser, Martin Figeac, Alexis B. Cortot, Etienne Rouleau, David Tulasne   +14 more
wiley   +1 more source

Complete nucleotide sequence of a highly divergent human T-cell leukemia (lymphotropic) virus type I (HTLV-I) variant from melanesia: genetic and phylogenetic relationship to HTLV-I strains from other geographical regions [PDF]

, 1993
Antoine Gessain, Enzo Boeri, Richard Yanagihara, Rosella Gallo, Genoveffa Franchini   +4 more
openalex   +1 more source

Etoposide‐induced cancer cell death: roles of mitochondrial VDAC1 and calpain, and resistance mechanisms

Molecular Oncology, EarlyView.
The complex mode of action of the topoisomerase II inhibitor etoposide in triggering apoptosis involves several mechanisms: overexpression of the mitochondrial protein VDAC1, leading to its oligomerization and formation of a large channel that mediates the release of pro‐apoptotic protein; and overexpression of the apoptosis regulators p53, Bax, and ...
Aditya Karunanithi Nivedita, Varda Shoshan‐Barmatz   +1 more
wiley   +1 more source

Dilute passage promotes expression of genetic and phenotypic variants of human immunodeficiency virus type 1 in cell culture [PDF]

, 1993
Sonsoles Sánchez‐Palomino, José M. Rojas, Miguel Ángel Martı́nez, E M Fenyö, R Nájera, Esteban Domingo, Cecilio López-Galı́ndez   +6 more
openalex   +1 more source

Respiratory complex I‐mediated NAD+ regeneration regulates cancer cell proliferation through the transcriptional and translational control of p21Cip1 expression by SIRT3 and SIRT7

Molecular Oncology, EarlyView.
NAD+ regeneration by mitochondrial complex I NADH dehydrogenase is important for cancer cell proliferation. Specifically, NAD+ is necessary for the activities of NAD+‐dependent deacetylases SIRT3 and SIRT7, which suppress the expression of p21Cip1 cyclin‐dependent kinase inhibitor, an antiproliferative molecule, at the translational and transcriptional
Masato Higurashi, Kazunori Mori, Hidetsugu Nakagawa, Momoko Uchida, Fumihiro Ishikawa, Motoko Shibanuma   +5 more
wiley   +1 more source

Genetic variants of human erythrocyte glucose-6-phosphate dehydrogenase. Kinetic and thermodynamic parameters of variants A, B, and A- in relation to quaternary structure.

, 1976
A O Babalola, J. G. Beetlestone, Lucio Luzzatto   +2 more
openalex   +1 more source