Results 41 to 50 of about 117,100 (294)

Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model [PDF]

, 2011
AS (Apert syndrome) is a congenital disease composed of skeletal, visceral and neural abnormalities, caused by dominant-acting mutations in FGFR2 [FGF (fibroblast growth factor) receptor 2].
Anderson, Beenken, Bochukova, Burgar, Celli, Cohen, De Moerlooze, Duan, Duchesne, Ezzat, Fairbanks, Hajihosseini, Hajihosseini, Hajihosseini, Hajihosseini, Hajihosseini, Hanneken, Ibrahimi, Jang, Jang, Jang, John K. Heath, Jones, Kawano, Klein, Kuro-o, Lee M. Wheldon, Lewis, Maquat, McKeehan, Mendell, Meyers, Miki, Mohammad K. Hajihosseini, Muhlemann, Naila Khodabukus, Naski, Nelson, Oldridge, Peters, Polanska, Ricol, Saito, Sekine, Slaney, Smith, Susannah J. Patey, Takaishi, Tanimoto, Terada, Terence G. Smith, Tsang, Tsukuno, Werner, Wheldon, Wilkie, Yamaguchi, Zhang   +57 more
core   +3 more sources

MicroRNA and Alternative mRNA Splicing Events in Cancer Drug Response/Resistance: Potent Therapeutic Targets

Biomedicines, 2021
Cancer is a multifaceted disease that involves several molecular mechanisms including changes in gene expression. Two important processes altered in cancer that lead to changes in gene expression include altered microRNA (miRNA) expression and aberrant ...
Rahaba Marima, Flavia Zita Francies, Rodney Hull, Thulo Molefi, Meryl Oyomno, Richard Khanyile, Sikhumbuzo Mbatha, Mzubanzi Mabongo, David Owen Bates, Zodwa Dlamini   +9 more
doaj   +1 more source

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells [PDF]

, 2016
A number of microRNAs have been shown to regulate skeletal muscle development and differentiation. MicroRNA-222 is downregulated during myogenic differentiation and its overexpression leads to alteration of muscle differentiation process and specialized ...
Cappella, Marisa, Cardinali, B., Cittaro, D., Falcone, G., Garcia Manteiga, J. M., Lazarevic, D., Martelli, F, Provenzano, C.   +7 more
core   +2 more sources

Repeat-associated RNA structure and aberrant splicing

Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms, 2019
Over 30 hereditary disorders attributed to the expansion of microsatellite repeats have been identified. Despite variant nucleotide content, number of consecutive repeats, and different locations in the genome, many of these diseases have pathogenic RNA gain-of-function mechanisms.
Melissa A, Hale, Nicholas E, Johnson, J Andrew, Berglund   +2 more
openaire   +3 more sources

Mechanistic Insights of Aberrant Splicing with Splicing Factor Mutations Found in Myelodysplastic Syndromes [PDF]

International Journal of Molecular Sciences, 2021
Pre-mRNA splicing is an essential process for gene expression in higher eukaryotes, which requires a high order of accuracy. Mutations in splicing factors or regulatory elements in pre-mRNAs often result in many human diseases. Myelodysplastic syndrome (MDS) is a heterogeneous group of chronic myeloid neoplasms characterized by many symptoms and a high
Naoyuki Kataoka, Eri Matsumoto, So Masaki   +2 more
openaire   +2 more sources

Optimizing the identification of risk-relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families [PDF]

, 2017
The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its clinical utility is still debated, mostly due to the lack of conclusive evidences on the impact of ...
Antoniou, Antoniou, Belardinilli, Bernstein, Broeks, Brown, Buffone, Capalbo, Capalbo, Castera, Chen, Coppa, Couch, Cybulski, Daly, Desmond, Easton, Economopoulou, Foulkes, Gad, Giannini, Giannini, Goldgar, Kurian, LaDuca, Li, Lincoln, Lindor, Neitzel, Nicolussi, Os, Plon, Prodosmo, Rebbeck, Renwick, Sandoval, Steffensen, Stratton, Telatar, Thompson, Thompson, Tung, Walsh, Walsh, Weischer, Williams   +45 more
core   +1 more source

Correction to the pathogenic alternative splicing, caused by the common GNB3 c.825C>T allele, using a novel, antisense morpholino [PDF]

, 2016
The very common GNB3 c.825C>T polymorphism (rs5443), is present in approximately half of all human chromosomes. Significantly the presence of the GNB3 825T allele has been strongly associated, with predisposition to essential hypertension ...
Lester, Douglas H., McGlinchey, Jonathan C. P., Tummala, Hemanth   +2 more
core   +3 more sources

Human CD46 aberrant splicing in transgenic mice

Gene, 1997
RNA analysis of mice transgenic for human CD46 reveals almost undetectable levels of the expected transcript and the accumulation of a 900 nt shorter species. cDNA cloning and sequence analysis of this variant demonstrate an aberrant splicing of the transgene RNA.
L C, Mulder, M, Rossini, M, Mora
openaire   +2 more sources

Signaling Pathways Driving Aberrant Splicing in Cancer Cells [PDF]

Genes, 2017
Aberrant profiles of pre-mRNA splicing are frequently observed in cancer. At the molecular level, an altered profile results from a complex interplay between chromatin modifications, the transcriptional elongation rate of RNA polymerase, and effective binding of the spliceosome to the generated transcripts.
Gonçalves, Vânia, Pereira, Joana F. S., Jordan, Peter   +2 more
openaire   +2 more sources

Wiskott-Aldrich syndrome protein forms nuclear condensates and regulates alternative splicing

Nature Communications, 2022
Wiskott-Aldrich syndrome is caused by mutations in WASP, but the underlying mechanisms remain to be explored. Here the authors reveal that WASP deficiency results in aberrant RNA splicing, and that WASP regulates the transcription of splicing factor ...
Baolei Yuan, Xuan Zhou, Keiichiro Suzuki, Gerardo Ramos-Mandujano, Mengge Wang, Muhammad Tehseen, Lorena V. Cortés-Medina, James J. Moresco, Sarah Dunn, Reyna Hernandez-Benitez, Tomoaki Hishida, Na Young Kim, Manal M. Andijani, Chongwei Bi, Manching Ku, Yuta Takahashi, Jinna Xu, Jinsong Qiu, Ling Huang, Christopher Benner, Emi Aizawa, Jing Qu, Guang-Hui Liu, Zhongwei Li, Fei Yi, Yanal Ghosheh, Changwei Shao, Maxim Shokhirev, Patrizia Comoli, Francesco Frassoni, John R. Yates, Xiang-Dong Fu, Concepcion Rodriguez Esteban, Samir Hamdan, Mo Li, Juan Carlos Izpisua Belmonte   +35 more
doaj   +1 more source