Results 51 to 60 of about 36,631 (311)

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

Pattern of Chromosomal Aberrations in Patients from North East Iran [PDF]

Cell Journal, 2013
Objective: Chromosomal aberrations are common causes of multiple anomaly syndromes. Recurrent chromosomal aberrations have been identified by conventional cytogenetic methods used widely as one of the most important clinical diagnostic techniques ...
Saeedeh Ghazaey, Farzaneh Mirzaei, Mitra Ahadian, Fatemeh Keifi, Semiramis Tootian, Mohammad Reza Abbaszadegan   +5 more
doaj  

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

An Autosomal Translocation 73,XY,t(12;20)(q11;q11) in an Infertile Male Llama (Lama glama) With Teratozoospermia

Frontiers in Genetics, 2019
Structural chromosome abnormalities, such as translocations and inversions occasionally occur in all livestock species and are typically associated with reproductive and developmental disorders.
Malorie P. Baily, Felipe Avila, Pranab J. Das, Michelle A. Kutzler, Terje Raudsepp   +4 more
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Hi-C analysis of genomic contacts revealed karyotype abnormalities in chicken HD3 cell line

BMC Genomics, 2023
Background Karyotype abnormalities are frequent in immortalized continuous cell lines either transformed or derived from primary tumors. Chromosomal rearrangements can cause dramatic changes in gene expression and affect cellular phenotype and behavior ...
A. Maslova, V. Plotnikov, M. Nuriddinov, M. Gridina, V. Fishman, A. Krasikova   +5 more
doaj   +1 more source

Aneusomy of chromosomes 7 and 17 predicts the recurrence of transitional cell carcinoma of the urinary bladder [PDF]

, 2000
Objective To determine if changes in chromosome 7 and 17 copy number can be used to predict recurrence in patients with primary noninvasive (pTa) or superficially invasive (pT1) transitional cell carcinoma (TCC) of the urinary bladder.
A.D. Watters, Bartlett, Bartlett, Cordon-cardo, Corless, Foresman, J.J. Going, J.M.S. Bartlett, K.M. Grigor, Kallioniemi, Knowles, McCredie, Murphy, Ozen, Povey, Pycha, Qureshi, S.A. Ballantyne, Sandberg, Saran, Sauter, Sauter, Sauter, Tolley, Underwood, Waldman, Yokogi   +26 more
core   +1 more source

Enhanced Glycolysis‐Driven Histone H3K18 Lactylation Regulates Epileptogenesis by Modulating the E3 Ubiquitin Ligase COP1

Advanced Science, EarlyView.
Neuronal PKM2‐driven glycolysis generates excess lactate that triggers histone H3K18 lactylation (H3K18la), establishing a pathogenic metabolic‐epigenetic axis in epilepsy. Elevated H3K18la enriches the Cop1 promoter, transcriptionally upregulating the E3 ubiquitin ligase COP1, which subsequently drives proteasomal degradation of GABAARβ2 and impairs ...
Yuan Meng, Yanlin Guo, Liumi Jiang, Jing Luo, Yan Liu, Ziwei Yuan, Pingyang Ke, Ran Duan, Fei Xiao   +8 more
wiley   +1 more source

Gemella morbillorum Promotes Colorectal Carcinogenesis: LPBDCP‐Mediated Invasion Activates Ras Signaling and Destabilizes p53

Advanced Science, EarlyView.
ABSTRACT Gut microbiota dysbiosis promotes colorectal cancer (CRC) tumorigenesis. A global fecal metagenomic analysis identified Gemella morbillorum as a key contributor to the CRC‐associated microbiota. Fluorescence in situ hybridization revealed that Gemella morbillorum is enriched in CRC tumor tissues compared to adjacent normal tissues.
Zhen Wang, Jia Zhang, Haojie Lu, Jingjing Ni, Shuaishuai Yang, Yuting Shi, Shuo Zhang, Pei Zhang, Li Liu   +8 more
wiley   +1 more source

Chromosomal aberrations in couples with pregnancy loss: A retrospective study

Journal of Human Reproductive Sciences, 2018
Background: Recurrent pregnancy loss is a challenging reproductive problem, and chromosomal anomalies approximately affect 2%–8% of couples with recurrent pregnancy loss.
Asoke K Pal, Prafulla S Ambulkar, Jwalant E Waghmare, Vandana Wankhede, Moreshwar R Shende, Aaditya M Tarnekar   +5 more
doaj   +1 more source