Results 61 to 70 of about 539,301 (229)

Comparative single‐cell transcriptomic profiling of patient‐derived renal carcinoma cells in cellular and animal models of kidney cancer

FEBS Open Bio, EarlyView.
We generated and characterized clear cell renal cell carcinoma models using the patient‐derived RCC243 cell line—including cell culture, orthotopic, and metastatic tumors—via single‐cell RNA‐sequencing for comparisons between models and patient tumor datasets.
Richard Huang, Lynn Kee, Alexander Gont, Jalna Meens, Fraser G. Ferens, Meredith S. Irwin, Laurie Ailles, Scott A. Yuzwa, Claire M. Robinson, Michael Ohh   +9 more
wiley   +1 more source

Possible role of human ribonuclease dicer in the regulation of R loops

FEBS Open Bio, EarlyView.
R loops play an important role in regulating key cellular processes such as replication, transcription, centromere stabilization, or control of telomere length. However, the unscheduled accumulation of R loops can cause many diseases, including cancer, and neurodegenerative or inflammatory disorders. Interestingly, accumulating data indicate a possible
Klaudia Wojcik, Paulina Krzeminska, Anna Kurzynska‐Kokorniak   +2 more
wiley   +1 more source

Development of 4T1 breast cancer mouse model system for preclinical carbonic anhydrase IX studies

FEBS Open Bio, EarlyView.
Carbonic anhydrase IX (CAIX) is a well‐recognised therapeutic target and prognostic biomarker in cancer. We developed and characterised a robust murine breast cancer model system that is suitable for CAIX studies in vitro and in vivo—it comprises both CAIX‐positive and CAIX‐negative controls and provides a solid platform for the comprehensive ...
Zane Kalniņa, Ilva Liekniņa, Svetlana Koteloviča, Ramona Petrovska, Gediminas Žvinys, Agne Petrosiute, Asta Zubrienė, Matīss Toms Laugalis, Vendija Skeltona, Juris Jansons, Madara Kreishmane, Edita Čapkauskaitė, Daumantas Matulis, Kaspars Tārs   +13 more
wiley   +1 more source

Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population

Clinical Genetics, 1993
Chabás A, Castellvi S, Bayés M, Balcells S, Grinberg D, Vilageliu L1, Marfany G, Lissens W, Gonzàlez‐Duarte R. Frequency of the arylsulphatase A pseudodeficiency allele in the Spanish population. Clin Genet 1993: 44: 320–323. © Munksgaard, 1993Pseudodeficiency in arylsulphatase A (ASA) is a relatively frequent condition in healthy individuals.
L Vilageliu, Susana Balcells, Roser Gonzàlez-Duarte, Gemma Marfany, A Chabás, Mònica Bayés, Willy Lissens, Daniel Grinberg, S. Castellvi   +8 more
openaire   +3 more sources

Identifying Signatures of Selection in Genetic Time Series

, 2013
Both genetic drift and natural selection cause the frequencies of alleles in a population to vary over time. Discriminating between these two evolutionary forces, based on a time series of samples from a population, remains an outstanding problem with ...
Feder, Alison, Kryazhimskiy, Sergey, Plotkin, Joshua B.   +2 more
core   +1 more source

Knockout of the mitoribosome rescue factors Ict1 or Mtrfr is viable in zebrafish but not mice: compensatory mechanisms underlying each factor's loss

FEBS Open Bio, EarlyView.
Mitochondria contain two mitoribosome rescue factors, ICT1 and MTRFR (C12orf65). ICT1 also functions as a mitoribosomal protein in mice and humans, and its loss is lethal. Although Mtrfr knockout mice could not be generated, knockout zebrafish lines for ict1 and mtrfr were established.
Nobukazu Nameki, Chika Tomisawa, Soichiro Hoshino, Hidehiko Shimizu, Masashi Abe, Sho Arai, Kanako Kuwasako, Naoki Asakawa, Yusuke Inoue, Takuro Horii, Izuho Hatada, Masakatsu Watanabe   +11 more
wiley   +1 more source

Improving population-specific allele frequency estimates by adapting supplemental data: an empirical Bayes approach

, 2007
Estimation of the allele frequency at genetic markers is a key ingredient in biological and biomedical research, such as studies of human genetic variation or of the genetic etiology of heritable traits.
Coram, Marc, Tang, Hua
core   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

Population estimators or progeny tests: what is the best method to assess null allele frequencies at SSR loci? [PDF]

Nuclear SSRs are notorious for having relatively high frequencies of null alleles, i.e. alleles that fail to amplify and are thus recessive and undetected in heterozygotes.
Buiteveld, J., Fady, B., Oddou-Muratorio, S., Vendramin, G.G.   +3 more
core   +3 more sources

LINC00323 variant is associated with increased risk of essential tremor

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan, Ebonne Ng, Qiao Yang Sun, Aaron Mai, Ling‐Ling Chan, Thomas Welton, Kumar M. Prakash, Kay Yaw Tay, Wing Lok Au, Louis C.S. Tan, Eng‐King Tan, Bin Xiao   +11 more
wiley   +1 more source