Results 181 to 190 of about 1,654,437 (300)

Genetic diagnosis of three intellectually disabled individuals in a pedigree and insights into fragile X syndrome diagnosis. [PDF]

Front Neurosci
Huang J, Kang B, Xia X, Guo Z, Lv Y, Yang W, Wang C, Wang J, Liao S.   +8 more
europepmc   +1 more source

How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results?:A UK-based qualitative interview study [PDF]

, 2011
Douglas, Margaret, Finnie, Robert, Hallowell, Nina, Jenkins, Nick, Lawton, Julia, Porteous, Mary, Walker, Simon   +6 more
core   +1 more source

DNA methylation and expression of MAPRE3 affect overall survival of early‐stage non‐small cell lung cancer patients

Molecular Oncology, EarlyView.
Both cg12821679MAPRE3 methylation and MAPRE3 expression are significantly associated with overall survival (OS) of non‐small cell lung cancer. Meanwhile, MAPRE3 expression significantly modified the effect of smoking cessation on OS. Smoking cessation benefits OS merely for patients with high MAPRE3 expression.
Chao Chen, Jiancheng Cheng, Ruili Hou, Xiaoyuan Zheng, Li Su, Maria Moksnes Bjaanæs, Anna Karlsson, Maria Planck, Johan Staaf, Åslaug Helland, Manel Esteller, David C. Christiani, Feng Chen, Xiaofei Cao, Ruyang Zhang   +14 more
wiley   +1 more source

Clinical and genetic diagnosis of a patient with focal segmental glomerulosclerosis due to a novel variant of the ANLN gene. [PDF]

CEN Case Rep
Zhang J, Xu J, Xiao T, Xiong J, Zhang B.
europepmc   +1 more source

Circulating tumor cell viability during and after radiotherapy mirrors treatment response in cancer patients

Molecular Oncology, EarlyView.
Radiotherapy (RT) response depends on the DNA repair capacity of tumor and host cells. We show that circulating tumor cell (CTC) counts and apoptosis rates before and after RT predict treatment response and outcome, which can be accessed via easily accessible liquid biopsy approaches. Created in BioRender. Wikman, H.
Yvonne Goy, Jana Löptien, Cornelia Coith, Afroditi Nanou, Katharina Hintelmann, Pinnschmidt Hans, Cordula Petersen, Klaus Pantel, Sabine Riethdorf, Kerstin Borgmann, Harriet Wikman   +10 more
wiley   +1 more source

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution. [PDF]

Eur J Hum Genet
Lildballe DL, Huno MR, Ridder LOR, Balle CM, Drue SO, Berglund A, Dunø M, Bak EN, Viuff MH, Rasmussen LS, Gravholt CH.   +10 more
europepmc   +1 more source

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

Molecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel, Izabela Kubiak, Lena Rutkowska, Żaneta Kasprzyk, Łukasz Kępczyński, Michał Bednarek, Dariusz Sobieraj, Jacek Wilkosz, Piotr Kania, Adam Jędrzejczyk, Bogdan Kałużewski, Agnieszka Gach, Tadeusz Kałużewski   +12 more
wiley   +1 more source

Challenges in accuracy in molecular genetic diagnosis of childhood AML: case series. [PDF]

Ann Hematol
de Oliveira Mota F, de Toledo SRC, Tesser-Gamba F, Pires MGC, Gouveia JT, Oliveira ID, da Silva Santos N, Delbuono E, Rhein BN, Guimarães RFDC, Zecchin VG, de Martino Lee ML, de Sousa AVL.   +12 more
europepmc   +1 more source

USP29‐regulated noncanonical stabilization of the hypoxia‐inducible factor‐α in aggressive prostate cancer

Molecular Oncology, EarlyView.
We identify USP29 as the only DUB mirroring CA9 expression, a marker of hypoxia and HIF pathway activation associated with PCA aggressiveness. USP29 stabilizes HIF‐1α and HIF‐2α via a noncanonical mechanism that is independent of PHD/pVHL activity yet relies on proteasomal regulation, establishing USP29 as a previously unrecognized regulator of hypoxic
Amelie S Schober, Leire Moreno‐Cugnon, Laura Martínez‐Pérez, Amaia Ercilla, Amaia Zabala‐Letona, Adrián Vicente‐Barrueco, Maider Fagoaga‐Eugui, Saioa Garcia‐Longarte, Blanca Calle‐Ciborro, Encarnación Pérez‐Andrés, Onintza Carlevaris, Sara Pozo, Isabel Mendizabal, Ugo Mayor, Arkaitz Carracedo, Violaine Sée, Edurne Berra   +16 more
wiley   +1 more source

From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant. [PDF]

Clin Cosmet Investig Dermatol
Deng Y, Wang H, Tang D, Peng CE.
europepmc   +1 more source