Results 71 to 80 of about 22,741,673 (262)

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes [PDF]

, 1988
Chromosome aberrations in two glioma cell lines were analyzed using biotinylated DNA library probes that specifically decorate chromosomes 1, 4, 7, 18 and 22 from pter to qter.
Cremer, Thomas, Manuelidis, L., Lichter, Peter, Borden, J., Ward, D. C.   +4 more
core   +1 more source

Analysis of Y-chromosome lines of Russian old-residents in the village Russkoye Ustye

Якутский медицинский журнал
Among the indigenous peoples of the Arctic coast of Yakutia (Yukaghirs, Chukchi, Evens, Evenks, Yakuts) there have long been enclaves of Russian old-settlers.
T. V. Borisova, A. V. Solovyov, A. M. Cherdonova, G. P. Romanov, F. M. Teryutin, V. G. Pshennikova, N. N. Gotovtsev, N. A. Barashkov, A. N. Alekseev, S. A. Fedorova   +9 more
doaj   +1 more source

Molecular Dissection Using Array Comparative Genomic Hybridization and Clinical Evaluation of An Infertile Male Carrier of An Unbalanced Y;21 Translocation: A Case Report and Review of The Literature [PDF]

International Journal of Fertility and Sterility, 2016
Chromosomal defects are relatively frequent in infertile men however, translocations between the Y chromosome and autosomes are rare and less than 40 cases of Y-autosome translocation have been reported.
Alfredo Orrico, Giuseppina Marseglia, Chiara Pescucci, Ambra Cortesi, Paola Piomboni, Andrea Giansanti, Francesca Gerundino, Roberto Ponchietti   +7 more
doaj   +1 more source

RNA‐related functions of BRCA2 in transcription, replication, and genome stability

FEBS Letters, EarlyView.
Beyond its role in homologous recombination, BRCA2 regulates R‐loop homeostasis, DNA–RNA hybrid resolution, RNA polymerase II dynamics, and transcriptional activation. Disruption of any of these functions can contribute to genome instability, inflammatory signaling, and tumorigenesis. BRCA2 is a central tumor suppressor protein best known for its roles
Lucia Alvaro‐Aranda, Sreerama Chaitanya Sridhara, Aura Carreira   +2 more
wiley   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Deficiency in the multicopy Sycp3-like X-linked genes Slx and Slxl1 causes major defects in spermatid differentiation. [PDF]

, 2010
The human and mouse sex chromosomes are enriched in multicopy genes required for postmeiotic differentiation of round spermatids into sperm. The gene Sly is present in multiple copies on the mouse Y chromosome and encodes a protein that is required for ...
Ojarikre, Obah A., Burgoyne, Paul S, Yamauchi, Yasuhiro, Rattigan, Aine, Julie Cocquet, Jonathan M. Riel, Thomas P. S. Karacs, Áine Rattigan, Yasuhiro Yamauchi, Riel, Jonathan M., Cocquet, Julie, Affara, Nabeel A., Monika A. Ward, Paul S. Burgoyne, Karacs, Thomas P.S., Ellis, Peter J.I., Obah A. Ojarikre, Peter J. I. Ellis, Nabeel A. Affara, Ward, Monika A.   +19 more
core   +1 more source

DNA ligase LigE increases bacterial transformation with damaged extracellular DNA

FEBS Letters, EarlyView.
The DNA ligase LigE from the naturally competent Gram‐negative bacterium Neisseria gonorrhoaea increases transformation with cut extracellular DNA. This process is ATP‐dependent and relies on the catalytic activity of LigE; it also requires that LigE contains an intact periplasmic localisation sequence, indicating that ligE functions in the periplasm ...
Jolyn Pan, Avi Singh, Shrawani Weralupe Gamladdalage, Joanna Hicks, Adele Williamson   +4 more
wiley   +1 more source

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia [PDF]

, 2013
© 2013 Mac Keith Press.Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex
Newbury, Dianne F, Bolton, Patrick F, Paracchini, S., Simpson, N., Simkin, Z., Talcott, J., Scerri, TS, O'Hare, A., Newbury, D., Addis, Laura, Knight, Julian, Fairfax, Benjamin P, Clark, A., Bishop, D. V M, Talcott, JB, Addis, L., Stein, J., Knight, J., Knight, Julian C, Slonims, V., Fairfax, Benjamin P., Slonims, Vicky, O'Hare, Anne, O'Hare, A, Addis, L, ?, ?, Pickles, A., Brandler, WM, Everitt, A., Hennessy, ER, Stein, John, Watson, J, Clark, Ann, Fairfax, BP, Cohen, W., Cowie, H., Conti-Ramsden, G., Paracchini, Silvia, Watson, J., Simpson, Nuala H, Stein, John F., Hennessy, Elizabeth R., Nudel, R., Seckl, J., Bolton, PF, Scerri, Thomas S, Baird, Gillian, Hennessy, E., Simpson, Nuala H., Talcott, Joel B., Talcott, Joel B, Baird, G., SLI Consortium, Brandler, W., Fisher, Simon E, Consortium, Sli, Brandler, William M., Baird, G, Fairfax, B., Knight, Julian C., Fisher, S., Nasir, J., Fisher, SE, Simpson, NH, Conti-Ramsden, G, Conti-Ramsden, Gina, Monaco, A. P., Hennessy, Elizabeth R, Paracchini, S, Scerri, T., Slonims, V, Clark, A, Watson, Jocelynne, Newbury, Dianne F., Brandler, William M, Simonoff, E., Newbury, DF, Fisher, Simon E., Scerri, Thomas S., Bolton, Patrick F., Paracchini, Silvia; id_orcid   +80 more
core   +1 more source

The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease

Frontiers in Genetics, 2019
The role of chromosome Y in chronic kidney disease (CKD) remains unknown, as chromosome Y is typically excluded from genetic analysis in CKD. The complex, sex-specific presentation of CKD could be influenced by chromosome Y genetic variation, but there ...
Kerry Anderson, Marisa Cañadas-Garre, Robyn Chambers, Alexander Peter Maxwell, Alexander Peter Maxwell, Amy Jayne McKnight   +5 more
doaj   +1 more source