Results 261 to 270 of about 514,785 (377)

Cytogenetic Profile of Chromosomal Aberrations in Leukemia Using the Fluorescence In Situ Hybridization (FISH) Method at a Tertiary Institution in Gauteng Province. [PDF]

Diagnostics (Basel)
Duma Z, Matsepane KC, Nkoana K, Pheeha SM, Mbele B, Simela-Tshabalala T, Tanyanyiwa DM.   +6 more
europepmc   +1 more source

The Frequency and Types of Chromosomal Aberrations in the Patients with Hypogonadism

, 2015
Osman Demırhan, Nilgün Tanrıverdi, Dilara Süleymanova, Nesrin Çetinel, Yusuf Yaşar, A Ballabio, G Sebastio, R Carrozzo, G Parenti, A Piccirillo, B Berengucr, L De, L Cruz, L De, Plazar, B Bhagavath, R Podolsky, M Ozata, E Bolu, D Bick, D Bick, Cjr Curry, J Mcgill, D Schorderet, R Bux, A Catovi, O Demirhan, A Pazarbasi, N Tanriverdi, A Aridogan, D Karahan, B Franco, S Guioli, A Pragliola, B Incerti, B Bardoni, R Tonlorenzi, C Garca, C Robles, Gonzlez Van, E Greenhall, M Vessey, J Hardelin, J Levilliers, S Blanchard, J Carel, M Leutenegger, O Demirhan, N Tanriverdi, D Sleymanova, N Cetinel, Y Yasar, Y Hsu, H Kim, J Ahn, I Kurth, R Ullmann, H Kim, R Legouis, J Hardelin, J Levilliers, J Claverie, S Compain, H Okada, H Fujioka, N Tatsumi, M Kanzaki, Y Okuda, R Quinton, V Duke, P Zoisa, A Platts, A Valentine, B Kendall, C Reina, S Basso, A Perino, Guraneri Mo, G Russo, V Brunelli, G Chiumello, A Schinzel, I Lorda-Sanchez, F Binkert, N Carter, C Bebb, L Saporta, A Yuksel, W Schmid, E Naef, G Murset, A Prader, R Semple, A Topaloglu, R Sherins, S Howards, S Snmez, Y Snmez, S ztas, V Sybert   +99 more
openalex   +1 more source

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

FEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study. [PDF]

J Transl Med
Yin K, Lü Y, Zhang H, Li M, Chang J, Yang X, Qi Q, Zhou X, Guo J, Wang Y, Wang C, Li W, Hao N, Jiang Y.   +13 more
europepmc   +1 more source

Characterization of circulating DNA as a biomarker for genetic aberrations in humans

, 2006
Maniesh van der Vaart
openalex   +1 more source

Induction of morphological aberrations by enzyme inhibition inDrosophila melanogaster

, 1969
M. Bos, W. Scharloo, R. Bijlsma, I. M. de Boer, Jaap den Hollander   +4 more
openalex   +2 more sources

Hands‐on protocol for preparing water‐soluble fractions from agri‐food samples for NMR‐based metabolomics analysis

FEBS Open Bio, EarlyView.
This research protocol outlines a workflow for nuclear magnetic resonance (NMR)‐based metabolomics in the agri‐food sector. Using two case studies—strawberry leaves (solid matrix) and wine (liquid matrix)—it details the procedures for sample preparation, data acquisition, and processing.
Andrea Fernández‐Veloso, Jaime Hiniesta‐Valero, Alejandra Guerra‐Castellano, Miguel A. De la Rosa, Irene Díaz‐Moreno   +4 more
wiley   +1 more source

CCNV: a user-friendly R package enabling large-scale cumulative copy number variation analyses of DNA methylation data. [PDF]

BMC Bioinformatics
Gocke A, Schumann Y, Navolić J, Godbole S, Schoof M, Dottermusch M, Neumann JE.   +6 more
europepmc   +1 more source

DDX3X induces mesenchymal transition of endothelial cells by disrupting BMPR2 signaling

FEBS Open Bio, EarlyView.
Elevated DDX3X expression led to downregulation of BMPR2, a key regulator of endothelial homeostasis and function. Our co‐immunoprecipitation assays further demonstrated a molecular interaction between DDX3X and BMPR2. Notably, DDX3X promoted lysosomal degradation of BMPR2, thereby impairing its downstream signaling and facilitating endothelial‐to ...
Yu Zhang, Jing Wang, De‐Hui Qian, Yang‐Fan Lv, Tian‐Le Cheng, Da‐Peng Wang, Jing Zhang, Ye Fan   +7 more
wiley   +1 more source

Maximising imaging volumes of expanded tissues for inverted fluorescence microscopy. [PDF]

Biomed Opt Express
Cardoso Mestre M, Lamb JR, Lancaster MA, Manton JD.   +3 more
europepmc   +1 more source