Results 211 to 220 of about 6,322,056 (300)

The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications. [PDF]

Anim Genet
Desmet L, Ferrari C, Abitbol M, Anderson H, Bannasch D, Bauer H, Bell J, Bilgen N, Chevallier L, Dufaure de Citres C, Donner J, Finno CJ, Giovambattista G, Harrison SM, Hayward JJ, Häggström J, Huff JT, Leeb T, Ljungvall I, Longeri M, Lyons LA, Martinez M, Mellersh C, Nicholas FW, Ohlsson Å, Petersen JL, Smets P, Strillacci MG, Tammen I, Van Buren S, van Steenbeek FG, Broeckx BJG.   +31 more
europepmc   +1 more source

Regulation of the lncRNA NEAT1 by p53‐ΔNp63 crosstalk modulates the DNA damage response and therapeutic efficacy in HNSCC

Molecular Oncology, EarlyView.
In head and neck squamous cell carcinoma (HNSCC) p53 and p63 exert opposite roles on the transcription regulation of the lncRNA NEAT1. Under basal conditions, p53 levels are low and p63 represses NEAT1 expression. Upon genotoxic stress, p53 is rapidly induced, displacing p63 from the NEAT1 promoter leading to NEAT1 transcriptional activation and ...
Sara De Domenico, Veronica La Banca, Silvia D'Amico, Stefano Scalera, Sara Nicolai, Angelo Peschiaroli   +5 more
wiley   +1 more source

Germline genomic testing to assess the suitability of stem cell donors in the treatment of haematological malignancy: clinical ethics commentary. [PDF]

J Med Ethics
Carley H, Sahan K, Hanson H, Snape K, Westbury S, Parker MJ, Lucassen AM.   +6 more
europepmc   +1 more source

Paclitaxel induces NM2‐dependent cellular contraction through GEF‐H1 dissociation from microtubules and RhoA/ROCK activation in cancer cells

Molecular Oncology, EarlyView.
Taxanes are widely used chemotherapeutics whose effects on cellular mechanics remain poorly understood. We show that paclitaxel induces rapid cellular contraction by promoting GEF‐H1 dissociation from microtubules and non‐muscle myosin II activation through RhoA/ROCK.
Gloria Asensio‐Juárez, Rafael Pérez‐Díaz, Hugo Ramos‐Solano, Marina Garrido‐Casado, Vanessa C. Talayero, Miguel Vicente‐Manzanares   +5 more
wiley   +1 more source

Incorporating genetics and genetic counselling in neurology clinics: a survey of neurologists' perceptions and current practices. [PDF]

BMJ Neurol Open
Gorman M, Maynard L, Horak H, Schaibley V.   +3 more
europepmc   +1 more source

Guidelines for the Structure of Clinical Genetics Units in Australasia

, 1999
Human Genetics Society of Australasia [HGSA]
core  

APOBEC3 activity and DNA polymerase‐ε deficiency are associated with distinct IDH1 R132 hotspot mutations

Molecular Oncology, EarlyView.
Isocitrate dehydrogenase 1 (IDH1) mutations are highly recurrent in multiple human cancer types, including cholangiocarcinoma and glioma. IDH1 R132C is the most common IDH1 mutation in cholangiocarcinoma and likely arises from APOBEC3A‐ or APOBEC3B‐mediated deamination.
Kelly E. Butler, Bilal A. Lone, Ecem Unal, A. Rouf Banday   +3 more
wiley   +1 more source

Knowledge, Attitudes, and Perceived Barriers to Genetics and Precision Medicine Among Rural Participants in a Large Academic Biobank: A Mixed-Methods Study. [PDF]

J Pers Med
MacNeal M, Bihlmeyer NA, Haga SB.
europepmc   +1 more source

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

Molecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault, Capucine Heraud, Mélissa Correia de Oliveira, Véronique Neaud, Valérie Valesco, Valérie Prouzet‐Mauleon, Béatrice Turcq, Jean‐William Dupuy, Anne‐Aurélie Raymond, Sabrina Croce, Frédéric Saltel, Valérie Lagrée, Violaine Moreau   +12 more
wiley   +1 more source

Professional bodies: how best to promote and support individuals working in human genetics and genomics. [PDF]

J Hum Genet
Newman WG.
europepmc   +1 more source