Results 51 to 60 of about 163,521 (283)

Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development

BMC Genomics, 2009
Background Down syndrome is a chromosomal disorder caused by the presence of three copies of chromosome 21. The mechanisms by which this aneuploidy produces the complex and variable phenotype observed in people with Down syndrome are still under ...
Vitalis Tania, Larrat Benoit, Wehrle Rosine, Pasteau Fabien, Dauphinot Luce, Rivals Isabelle, Laffaire Julien, Moldrich Randal X, Rossier Jean, Sinkus Ralph, Herault Yann, Dusart Isabelle, Potier Marie-Claude   +12 more
doaj   +1 more source

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

NEMO Gene Mutations in Chinese Patients With Incontinentia Pigmenti

Journal of the Formosan Medical Association, 2010
Incontinentia pigmenti is a rare, X-linked, dominant genodermatosis affecting skin, teeth, eyes, and central nervous system. Symptoms are associated with mutations in the nuclear factor-kappa B essential modulator (NEMO) gene on chromosome Xq28.
Pa-Fan Hsiao, Shuan-Pei Lin, Shu-Shien Chiang, Yu-Hung Wu, Hsiu-Chin Chen, Yang-Chih Lin   +5 more
doaj   +1 more source

Network divergence analysis identifies adaptive gene modules and two orthogonal vulnerability axes in pancreatic cancer

Molecular Oncology, EarlyView.
Tumors contain diverse cellular states whose behavior is shaped by context‐dependent gene coordination. By comparing gene–gene relationships across biological contexts, we identify adaptive transcriptional modules that reorganize into distinct vulnerability axes.
Brian Nelson, Lyanne Delgado‐Coka, Natalia Marchenko, Luisa F. Escobar‐Hoyos, Kenneth R. Shroyer, Alisa Yurovsky, Trey Ideker, Gábor Balázsi, Thomas MacCarthy, Scott Powers   +9 more
wiley   +1 more source

Significance of chromosome 9p status in renal cell carcinoma:a systematic review and quality of the reported studies [PDF]

, 2014
Defining the prognosis of renal cell carcinoma (RCC) using genetic tests is an evolving area. The prognostic significance of 9p status in RCC, although described in the literature, remains underutilised in clinical practice. The study explored the causes
Cunningham, J., El-Mokadem, Ismail, Fitzpatrick, John, Fleming, Stewart, Nabi, Ghulam, Pratt, Norman, Rai, Bhavan   +6 more
core   +5 more sources

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Landscape of copy number variations in Bos taurus: individual – and inter-breed variability

BMC Genomics, 2018
Background The number of studies of Copy Number Variation in cattle has increased in recent years. This has been prompted by the increased availability of data on polymorphisms and their relationship with phenotypes.
M. Mielczarek, M. Frąszczak, E. Nicolazzi, J. L. Williams, J. Szyda   +4 more
doaj   +1 more source

Double-strand break repair and homologous recombination in Schizosaccharomyces pombe [PDF]

, 2006
In recent years our understanding of double strand break repair and homologous recombination in Schizosaccharomyces pombe has increased significantly, and the identification of novel pathways and genes with homologues in higher eukaryotes has increased ...
Ahmad, Ahmad, Ahn, Ahnesorg, Akamatsu, Assenmacher, Baumann, Boddy, Boddy, Bonatto, Bransteitter, Buck, Callebaut, Caspari, Catlett, Cervantes, Chahwan, Cheok, Connelly, Cooper, Doe, Doe, Doe, Doe, Dudasova, Farah, Farah, Ferreira, Ferreira, Fukushima, Gaillard, Goedecke, Goodwin, Grishchuk, Haber, Hartsuiker, Hefferin, Jang, Jung, Khasanov, Khasanov, Kibe, Kim, Kim, Krogh, Lambert, Laursen, Macris, Maftahi, Maftahi, Manolis, Marchetti, Martin, McGlynn, Moore, Morishita, Muris, Muris, Muris, Murray, Nakada, Nakamura, Oakley, Ono, Osman, Osman, Osman, Ostermann, Paques, Parker, Prudden, Sauvageau, Schmidt, Segurado, Shinohara, Smith, Steiner, Stewart, Sung, Suto, Szankasi, Szostak, Tarsounas, Tavassoli, Thacker, Tomita, Tomita, Tsutsui, Tsutsui, Ueno, van den Bosch, van den Bosch, Virgin, Virgin, Wang, Weterings, Whitby, Whitby, Wilson, Win, Win, You, Young   +102 more
core   +2 more sources

Identifying transcription factors controlling the basal expression of human MRP4 highlights a substantial role for Sp1

FEBS Open Bio, EarlyView.
The MRP4 transporter exports several drugs and signaling molecules. Here, we identified key promoter elements regulating basal MRP4 expression. Using reporter assays, we defined a conserved region with essential Sp1 and contributory Ets sites, which controlled basal MRP4 expression.
Debora Singer, Angelique Kragl, Katrin Ziems, Juliane Glaubitz, Sophie Grammbauer, Susanne Hildebrandt, Mladen V. Tzvetkov, Gabriele Jedlitschky   +7 more
wiley   +1 more source

Fork rotation and DNA precatenation are restricted during DNA replication to prevent chromosomal instability [PDF]

, 2015
Faithful genome duplication and inheritance require the complete resolution of all intertwines within the parental DNA duplex. This is achieved by topoisomerase action ahead of the replication fork or by fork rotation and subsequent resolution of the DNA
Anna L. Chambers, Hiasa, Jessica A. Downs, Jonathan Baxter, Sahar Mansoubi, Stephanie A. Schalbetter   +5 more
core   +3 more sources