Results 221 to 230 of about 838,049 (387)

The Exon 13 Duplication in the BRCA1 Gene Is a Founder Mutation Present in Geographically Diverse Populations [PDF]

, 2000
Sylvie Mazoyer
openalex   +1 more source

JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

New England Journal of Medicine, 2007
L. Scott, W. Tong, R. Levine, Michael A. Scott, P. Beer, M. Stratton, P. Futreal, W. Erber, M. McMullin, C. Harrison, Alan J. Warren, Alan J. Warren, D. Gilliland, D. Gilliland, H. Lodish, Anthony R. Green, Anthony R. Green   +16 more
semanticscholar   +1 more source

5‐Hydroxymethylcytosine Dynamics Reveals Coordinated Reprogramming of Parental Genomes and X Chromosome Dosage Balance in Mouse SCNT Embryos

Advanced Science, EarlyView.
Genome‐wide, high‐resolution profiling of hydroxymethylation in mouse SCNT embryos reveals a transient, allele‐symmetric 5hmC reprogramming pattern distinct from natural embryos, with X‐chromosomes and imprinting control regions resistant to proper remodeling.
Zeming Xiang, Rui Yan, Jing Guo, Mengyao Wang, Xin Cheng, Fan Zhang, Tianzi Guo, Xin Long, Fan Guo, Dan Liang   +9 more
wiley   +1 more source

Urothelial Carcinoma With a Novel <i>MET</i> Exon 14 Skipping Alteration. [PDF]

Cancer Diagn Progn
Petropoulou E, Stavridi F, Bili C, Florentin L, Kakavouli G, Spanakis N.   +5 more
europepmc   +1 more source

HnRNP A1 tethers KSRP to an exon splicing silencer that inhibits an erythroid-specific splicing event in PU.1-induced erythroleukemia.

, 2015
Alexandre Douablin, Mireille Deguillien, Osman Breig, Faouzi Baklouti   +3 more
openalex   +1 more source

Thyroid autoantibody production is influenced by exon 1 and promoter CTLA‐4 polymorphisms in patients with Hashimoto's thyroiditis [PDF]

, 2006
Katja Zaletel, Blaž Krhin, Simona Gaberšček, Sergej Hojker   +3 more
openalex   +1 more source

TBK1 Induces the Formation of Optineurin Filaments That Condensate with Polyubiquitin and LC3 for Cargo Sequestration

Advanced Science, EarlyView.
Phosphorylation of Optineurin by TBK1 induces the formation of filaments that condensate upon binding to linear polyubiquitin. Membrane‐anchored LC3 partitions into these condensates, suggesting that phase separation of filamentous Optineurin with ubiquitylated cargo promotes the sequestration of cargo and its subsequent alignment with LC3‐positive ...
Maria G. Herrera, Lena Kühn, Lisa Jungbluth, Verian Bader, Laura J. Krause, David Kartte, Elias Adriaenssens, Sascha Martens, Jörg Tatzelt, Carsten Sachse, Konstanze F. Winklhofer   +10 more
wiley   +1 more source

ExonSurfer: a web-tool to design primers at exon–exon junctions [PDF]

Pablo Monfort‐Lanzas, Elena Cristina Rusu, Lucia Parráková, Cornelia A. Karg, Dorina-Elina Kernbichler, Dietmar Rieder, Peter Lackner, Hubert Hackl, Johanna M. Gostner   +8 more
openalex   +1 more source

Exon circularization requires canonical splice signals.

Cell Reports, 2015
S. Starke, Isabelle Jost, O. Rossbach, Tim Schneider, S. Schreiner, Lee‐Hsueh Hung, A. Bindereif   +6 more
semanticscholar   +1 more source

Geometrically Encoded Positioning of Introns, Intergenic Segments, and Exons in the Human Genome

Advanced Science, EarlyView.
This study introduces a new hypothesis: exons, introns, and intergenic segments are non‐random projections of the functional layers of 3D structure of chromatin packing domains. Evidence is presented that this “geometric code” may encode volumetric structure, reconciling epigenetic patterns, correlates with oncogenic mutations, acting as a potential ...
Luay M. Almassalha, Kyle L. MacQuarrie, Marcelo Carignano, Cody L. Dunton, Ruyi Gong, Joe Ibarra, Lucas M. Carter, Wing Shun Li, Rikkert Nap, Parambir S. Dulai, Igal Szleifer, Vadim Backman   +11 more
wiley   +1 more source