Results 31 to 40 of about 1,186 (215)

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

BMC Medical Genomics, 2018
Background The etiology of more than half of all patients with X-linked intellectual disability remains elusive, despite array-based comparative genomic hybridization, whole exome or genome sequencing.
Alena Zablotskaya, Hilde Van Esch, Kevin J. Verstrepen, Guy Froyen, Joris R. Vermeesch   +4 more
doaj   +1 more source

lobSTR: A Short Tandem Repeat Profiler for Personal Genomes [PDF]

Genome Research, 2012
Short tandem repeats (STRs) have a wide range of applications, including medical genetics, forensics, and genetic genealogy. High-throughput sequencing (HTS) has the potential to profile hundreds of thousands of STR loci. However, mainstream bioinformatics pipelines are inadequate for the task.
Melissa Gymrek, David Golan, Saharon Rosset, Yaniv Erlich   +3 more
openaire   +2 more sources

Dimethyl fumarate combined with cisplatin at subcytotoxic doses sensitizes cervical cancer toward ferroptosis and apoptosis through GSH restriction and p53 (re)activation

Molecular Oncology, EarlyView.
Dimethyl fumarate (DMF) reduces growth of HPV‐positive cervical cancer spheroids and induces ferroptosis in cervical cancer cells via blocking SLC7A11/Glutathione (GSH) axis. Combination of subcytotoxic doses of DMF and cisplatin (CDDP) further suppresses spheroid growth and drives cell death in 2D culture models.
Carolina Punziano, Giuseppina Minopoli, Simona Romano, Laura Marrone, Katia Aquilano, Maria Lina Tornesello, Raffaella Faraonio   +6 more
wiley   +1 more source

Systematic profiling of short tandem repeats in the cattle genome [PDF]

Genome Biology and Evolution, 2016
Short tandem repeats (STRs), or microsatellites, are genetic variants with repetitive 2–6 base pair motifs in many mammalian genomes. Using high-throughput sequencing and experimental validations, we systematically profiled STRs in five Holsteins.
Xu, Lingyang, Haasl, Ryan J., Sun, Jiajie, Zhou, Yang, Bickhart, Derek M., Li, Junya, Song, Jiuzhou, Sonstegard, Tad S., Van Tassell, Curtis P., Lewin, Harris A., Liu, George E.   +10 more
openaire   +2 more sources

Engineered extracellular vesicles enriched with the miR‐214/199a cluster enhance the efficacy of chemotherapy in ovarian cancer

Molecular Oncology, EarlyView.
Loss of the miR‐214/199a cluster is associated with recurrence in ovarian cancer. Engineered small extracellular vesicles (m214‐sEVs) elevate miR‐214‐3p/miR‐199a‐5p in tumor cells, suppress β‐catenin, TLR4, and YKT6 signaling, reprogram tumor‐derived sEV cargo, reduce chemoresistance and migration, and enhance carboplatin efficacy and survival in ...
Weida Wang, Ayesha Alvero, Yi Qin, Mingjin Wang, Alexandra Fox, Yanfeng Li, Michael Millman, Amy Kemper, Gil Mor, Xian Shuang Liu, Michael Chopp, Zheng Gang Zhang, Yi Zhang   +12 more
wiley   +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

Recombinase polymerase amplification of forensic short tandem repeat loci

Scientific Reports
Short tandem repeats (STRs) are highly polymorphic repetitive DNA sequences extensively used in forensic science for identification of individuals. STR genotyping is usually performed by capillary electrophoresis (CE) or next-generation sequencing (NGS ...
Sonja Škevin, Liesl De Keyzer, Lynn De Waele, Olivier Tytgat, David Van Hoofstat, Dieter Deforce, Filip Van Nieuwerburgh   +6 more
doaj   +1 more source

Marker Spesifik Combine DNA Index System (CODIS) 13 dalam Identifikasi Forensik pada Suku Jawa dan Madura di Indonesia

Research Journal of Life Science, 2018
Forensic identification can be performed DNA examination. FBI had recommended, forensic DNA examination to used short tandem repeat CODIS 13. Result of determine Short tandem repeat CODIS 13, showed specific pattern.
Wening Prastowo, Fitria Dewi Listiani
doaj   +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

Microsatellite typing of Mycobacterium leprae strains in newly diagnosed multibacillary leprosy patients to trace out the transmission pattern

Biomedical and Biotechnology Research Journal, 2017
Background: Leprosy was eliminated from India in December 2005 imprinting a prevalence rate of
Farah Naaz, Partha Sarathi Mohanty, Avi Kumar Bansal, Dilip Kumar, Umesh Datta Gupta   +4 more
doaj   +1 more source