Results 41 to 50 of about 39,387 (246)

Organ Abnormalities Caused by Turner Syndrome

Cells, 2023
Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-linked genes, affects multiple organ systems, leading to hypogonadotropic hypogonadism, short stature, cardiovascular and vascular abnormalities, liver disease, renal ...
Sang Hoon Yoon, Ga Yeon Kim, Gyu Tae Choi, Jeong Tae Do   +3 more
doaj   +1 more source

On the origins of Mendelian disease genes in man: the impact of gene duplication [PDF]

, 2011
Over 3,000 human diseases are known to be linked to heritable genetic variation, mapping to over 1,700 unique genes. Dating of the evolutionary age of these disease-associated genes has suggested that they have a tendency to be ancient, specifically ...
Dickerson, Jonathan E., Robertson, David L.   +1 more
core   +1 more source

Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation

Nature Communications, 2018
DNA methylation is critically involved in X chromosome inactivation (XCI) and dosage compensation, yet some X-chromosomal genes escape XCI. Here, Lujik et al.
René Luijk, Haoyu Wu, Cavin K Ward-Caviness, Eilis Hannon, Elena Carnero-Montoro, Josine L. Min, Pooja Mandaviya, Martina Müller-Nurasyid, Hailiang Mei, Silvere M. van der Maarel, BIOS Consortium, Caroline Relton, Jonathan Mill, Melanie Waldenberger, Jordana T. Bell, Rick Jansen, Alexandra Zhernakova, Lude Franke, Peter A. C. ‘t Hoen, Dorret I. Boomsma, Cornelia M. van Duijn, Marleen M. J. van Greevenbroek, Jan H. Veldink, Cisca Wijmenga, Joyce van Meurs, Lucia Daxinger, P. Eline Slagboom, Erik W. van Zwet, Bastiaan T. Heijmans   +28 more
doaj   +1 more source

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source

Functional characteristics of a double positive feedback loop coupled with autorepression [PDF]

, 2008
We study the functional characteristics of a two-gene motif consisting of a double positive feedback loop and an autoregulatory negative feedback loop.
Banerjee, Subhasis, Bose, Indrani
core   +2 more sources

Ubiquitylation of the acetyltransferase MOF in Drosophila melanogaster.

PLoS ONE, 2017
The nuclear acetyltransferase MOF (KAT8 in mammals) is a subunit of at least two multi-component complexes involved in transcription regulation. In the context of complexes of the 'Non-Specific-Lethal' (NSL) type it controls transcription initiation of ...
Sarah Schunter, Raffaella Villa, Victoria Flynn, Jan B Heidelberger, Anne-Kathrin Classen, Petra Beli, Peter B Becker   +6 more
doaj   +1 more source

Levels of DNA cytosine methylation in the Drosophila genome [PDF]

PeerJ, 2018
Insects provide an accessible system to study the contribution of DNA methylation to complex epigenetic phenotypes created to regulate gene expression, chromatin states, imprinting and dosage compensation.
Saniya Deshmukh, VK Chaithanya Ponnaluri, Nan Dai, Sriharsa Pradhan, Deepti Deobagkar   +4 more
doaj   +2 more sources

Dual targeting of RET and SRC synergizes in RET fusion‐positive cancer cells

Molecular Oncology, EarlyView.
Despite the strong activity of selective RET tyrosine kinase inhibitors (TKIs), resistance of RET fusion‐positive (RET+) lung cancer and thyroid cancer frequently occurs and is mainly driven by RET‐independent bypass mechanisms. Son et al. show that SRC TKIs significantly inhibit PAK and AKT survival signaling and enhance the efficacy of RET TKIs in ...
Juhyeon Son, Lily L. Remsing Rix, Bin Fang, Eric A. Welsh, Nicole V. Bremer, Valentina Foglizzo, Paola Roa, Nickole Sigcha‐Coello, Yi Liao, Eric B. Haura, Alexander Drilon, John M. Koomen, Emiliano Cocco, Uwe Rix   +13 more
wiley   +1 more source

Sequence Expression of Supernumerary B Chromosomes: Function or Fluff? [PDF]

, 2019
B chromosomes are enigmatic heritable elements found in the genomes of numerous plant and animal species. Contrary to their broad distribution, most B chromosomes are non-essential. For this reason, they are regarded as genome parasites.
Akbari, Omar S, Dalla Benetta, Elena, Ferree, Patrick M   +2 more
core   +1 more source

Sex Chromosomes and Sex Phenotype Contribute to Biased DNA Methylation in Mouse Liver

Cells, 2020
Sex biases in the genome-wide distribution of DNA methylation and gene expression levels are some of the manifestations of sexual dimorphism in mammals.
Qinwei Kim-Wee Zhuang, Jose Hector Galvez, Qian Xiao, Najla AlOgayil, Jeffrey Hyacinthe, Teruko Taketo, Guillaume Bourque, Anna K. Naumova   +7 more
doaj   +1 more source