Results 211 to 220 of about 108,171 (302)

<i>BRCA</i> Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) <i>BRCA2</i> Variant. [PDF]

Cancers (Basel)
De Marchis L, Gelibter AJ, Mammone G, Madaio RA, Aretini P, De Bonis M, Zampatti S, Peconi C, Guadagnolo D, Vestri A, Pizzuti A, Giardina E, Capoluongo ED, Minucci A.   +13 more
europepmc   +1 more source

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

Clinical characterization and founder effect analysis in Chinese amyotrophic lateral sclerosis patients with <i>SOD1</i> common variants. [PDF]

Ann Med
Wang PS, Yang XX, Wei Q, Lv YT, Wu ZY, Li HF.   +5 more
europepmc   +1 more source

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

Circum-Mediterranean influence in the Y-chromosome lineages associated with prostate cancer in Mexican men: A Converso heritage founder effect? [PDF]

PLoS One
Álvarez-Topete E, Torres-Sánchez LE, Hernández-Tobías EA, Véliz D, Hernández-Pérez JG, de Lourdes López-González M, Meraz-Ríos MA, Gómez R.   +7 more
europepmc   +1 more source

Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot? [PDF]

Genes (Basel), 2020
Shinagawa J, Moteki H, Nishio SY, Noguchi Y, Usami SI.   +4 more
europepmc   +1 more source

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

High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect. [PDF]

Sci Rep
Borisova TV, Cherdonova AM, Pshennikova VG, Teryutin FM, Morozov IV, Bondar AA, Baturina OA, Kabilov MR, Romanov GP, Solovyev AV, Fedorova SA, Barashkov NA.   +11 more
europepmc   +1 more source

Founder effect contributes to the unique pattern of SARS-CoV-2 variant B.1.1.519 emergence in Alaska

, 2022
Haan TJ, Smith LK, DeRonde S, House E, Zidek J, Puhak D, Redlinger M, Parker J, Barnes BM, Burkhead JL, Knall C, Bortz E, Chen J, Drown DM.   +13 more
europepmc   +1 more source

Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model

Molecular Oncology, EarlyView.
Targeted therapy was evaluated in SHH medulloblastoma using neuroepithelial stem cell (NES) and tumor‐derived NES‐like (tNES) models in 2D monolayers and 3D spheroids. PI3K, AKT, and CDK4/6 inhibitors had minimal effects in NES but markedly reduced viability and growth and induced apoptosis in tNES cells, revealing distinct therapeutic vulnerabilities.
Monika Lukoseviciute, Madeleine Birgersson, Paolo Ceriani, Margareta Wilhelm, Ourania N Kostopoulou   +4 more
wiley   +1 more source