Results 71 to 80 of about 363,020 (279)

Structural variation, selection, and diversification of the NPIP gene family from the human pangenome

Cell Genomics
Summary: The NPIP gene family is among the most positively selected gene families in humans/apes and drives independent duplication in primate lineages.
Philip C. Dishuck, Katherine M. Munson, Alexandra P. Lewis, Max L. Dougherty, Jason G. Underwood, William T. Harvey, PingHsun Hsieh, Tomi Pastinen, Evan E. Eichler   +8 more
doaj   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

SMaSH: A Benchmarking Toolkit for Human Genome Variant Calling

, 2014
Motivation: Computational methods are essential to extract actionable information from raw sequencing data, and to thus fulfill the promise of next-generation sequencing technology. Unfortunately, computational tools developed to call variants from human
Bresler, Ma'ayan, Curtis, Kristal, Hartl, Christopher, Jordan, Michael I., Liptrap, Jesse, Newcomb, Julie, Patterson, David, Song, Yun S., Talwalkar, Ameet, Terhorst, Jonathan   +9 more
core   +1 more source

Genomic Variation in Dengue Virus Non-Structural Protein 5 (NS5).

Journal of Aziz Fatimah Medical and Dental College
Objective: To identify the most frequently repeated mutations in the NS5 protein in DENV RNA isolated from dengue patients in the province Punjab of Pakistan.
Saira Mushtaq, Malik Ihsan Ullah Khan, Muhammad Tahir Khan, Aneeqa Shahid, Rameesha Shafiq, Sarwat Jahan   +5 more
doaj   +3 more sources

Evaluation of deep learning for predicting rice traits using structural and single-nucleotide genomic variants

Plant Methods
Background Structural genomic variants (SVs) are prevalent in plant genomes and have played an important role in evolution and domestication, as they constitute a significant source of genomic and phenotypic variability.
Ioanna-Theoni Vourlaki, Sebastián E. Ramos-Onsins, Miguel Pérez-Enciso, Raúl Castanera   +3 more
doaj   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations [PDF]

, 2019
BackgroundRecent advances in genomic technologies have facilitated genome-wide investigation of human genetic variations. However, most efforts have focused on the major populations, yet trio genomes of indigenous populations from Southeast Asia have ...
Bhak, Jong, Deng, Lian, Farhang, Aghakhanian, Hoh, Boon-Peng, Hoque, Mohammad Zahirul, Kumar, Subbiah Vijay, Liu, Chang, Lou, Haiyi, Lu, Dongsheng, Marshall, Christian R., Ong, Rick Twee-Hee, Phipps, Maude E., Scherer, Stephen W., Teo, Yik-Ying, Thiruvahindrapuram, Bhooma, Thuhairah, Abdul Rahman, Wong, Lai-Ping, Xie, Bo, Xu, Shuhua, Xu, Wanxing, Yew, Chee-Wei, Zhang, Xiaoxi   +21 more
core   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

Molecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak, Karolina Pytlak, Sandra Jaworowska, Bogusz Kulawiak, Piotr Bednarczyk   +4 more
wiley   +1 more source

estMOI: estimating multiplicity of infection using parasite deep sequencing data. [PDF]

, 2014
Individuals living in endemic areas generally harbour multiple parasite strains. Multiplicity of infection (MOI) can be an indicator of immune status and transmission intensity.
Amambua-Ngwa, Auburn, Babiker, Bowman, Colin J. Sutherland, Harold Ocholla, Manske, Mark D. Preston, Nkhoma, Ntoumi, Preston, Robinson, Ross, Samuel A. Assefa, Sepulveda, Susana Campino, Taane G. Clark   +16 more
core   +2 more sources

Enterovirus D68 Sequence Variations and Pathogenicity: A Review

Viruses
Enterovirus D68 (EV-D68), a neurotropic respiratory pathogen, poses a considerable clinical threat through its link to pediatric acute flaccid myelitis (AFM) and severe respiratory illness. The possibility of recurrent epidemics, evidenced since the 2014
Yi Zhu, Liting Wang, Jun Shen
doaj   +1 more source