Results 151 to 160 of about 951,804 (263)

Genetic Testing by Age at Onset in Parkinson Disease.

JAMA Neurol
Balck A, Vollstedt EJ, Westenberger A, Lange LM, Trinh J, Kasten M, Lohmann K, Brüggemann N, Trenkwalder C, Mollenhauer B, Alcalay R, Galvelis KG, Beck JC, Bauer P, Klein C, König IR, Global Parkinson’s Genetics Program (GP2), the ROPAD Study Group, and the PDGENEration Study.   +18 more
europepmc   +1 more source

Law and genetic testing [PDF]

Nature, 1986
openaire   +2 more sources

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

Significance of Genetic Testing in Diagnosing Cholestatic Disease in Infants. [PDF]

Cureus
Khan M, Shehzad MU, Khattak UM, Zeeshan N, Seerat I.   +4 more
europepmc   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

Clinical Clues to the Diagnostic Yield of Genetic Testing in Adults With Late-Onset Behavioral Change. [PDF]

Neurol Genet
Groeneveld J, de Boer SCM, Krudop W, Ozhegov G, Hulsman M, Dols A, Kerssens CJ, Schouws S, Barkhof F, Holstege H, Pijnenburg YAL, Van Der Lee SJ, Duits FH.   +12 more
europepmc   +1 more source

Cell‐cycle‐specific lesion evolution rather than inhibition of double‐strand‐break repair underpins cisplatin radiosensitization

Molecular Oncology, EarlyView.
We analyze cisplatin–DNA adducts (CDAs) and double‐strand breaks (DSBs) in a cell‐cycle‐dependent manner. We find that CDAs form similarly across all cell cycle phases. DSBs arise only in S‐phase. CDAs might not directly impair DSB repair, but S‐phase DSB lesions evolve in the presence of CDAs and disrupt repair in G2, also causing radiosensitization ...
Ye Qiu, Xixi Lin, Emil Mladenov, Veronika Mladenova, Jürgen Thomale, Ali Sak, Yao Wang, Yunxuan Deng, Eleni Gkika, Martin Stuschke, George Iliakis   +10 more
wiley   +1 more source

Importance of genetic testing in childhood cancer survivors for hereditary cancer predisposition syndromes. [PDF]

Hered Cancer Clin Pract
Urbas A, Ušaj P, Šeruga B, Krajc M, Hotujec S, Stegel V, Zaletel LZ.   +6 more
europepmc   +1 more source

Transcriptional profiling of circulating extracellular vesicles from prebiopsy prostate cancer patients

Molecular Oncology, EarlyView.
RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner, Pierre Tennstedt, Randi C. Pose, Christian Müller, Katharina Besler, Svenja Schneegans, Malik Alawi, Marie C. Roesch, Sven Peine, Desiree Bonci, Joanna Budna‐Tukan, Evi Lianidou, Catherine Alix‐Panabières, Derya Tilki, Klaus Pantel   +14 more
wiley   +1 more source

Impact of diagnostic genetic testing for familial dementia: experiences of patients and relatives. [PDF]

Alzheimers Res Ther
van der Schaar J, Visser LNC, Asscher ECA, Pijnenburg YAL, de Geus CM, van der Flier WM, Bredenoord AL, van den Hoven MA, Smets EMA, van der Lee SJ.   +9 more
europepmc   +1 more source