Zobrazeno 1 - 10
of 160
pro vyhledávání: '"Alex Mas"'
Publikováno v:
eLife, Vol 12 (2023)
Cultural and socioeconomic differences stratify human societies and shape their genetic structure beyond the sole effect of geography. Despite mating being limited by sociocultural stratification, most demographic models in population genetics often
Externí odkaz:
https://doaj.org/article/82970630e7aa487dbedb9128dbaff11f
Publikováno v:
F1000Research, Vol 11 (2023)
A sound analysis of DNA sequencing data is important to extract meaningful information and infer quantities of interest. Sequencing and mapping errors coupled with low and variable coverage hamper the identification of genotypes and variants and the
Externí odkaz:
https://doaj.org/article/ca8368bea07c4a84bf23025c5924035f
Autor:
Li Fang, Alex Mas Monteys, Alexandra Dürr, Megan Keiser, Congsheng Cheng, Akhil Harapanahalli, Pedro Gonzalez-Alegre, Beverly L. Davidson, Kai Wang
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100212- (2023)
Externí odkaz:
https://doaj.org/article/5b6636653ade417b971e1b36bcf3f0fe
Publikováno v:
Genome Biology, Vol 23, Iss 1, Pp 1-27 (2022)
Abstract Despite recent improvements in basecalling accuracy, nanopore sequencing still has higher error rates on short-tandem repeats (STRs). Instead of using basecalled reads, we developed DeepRepeat which converts ionic current signals into red-gr
Externí odkaz:
https://doaj.org/article/cd5ecec98d6b44debd6abf2177f51d0a
Autor:
Caroline Gubser Keller, Youngah Shin, Alex Mas Monteys, Nicole Renaud, Martin Beibel, Natalia Teider, Thomas Peters, Thomas Faller, Sophie St-Cyr, Judith Knehr, Guglielmo Roma, Alejandro Reyes, Marc Hild, Dmitriy Lukashev, Diethilde Theil, Natalie Dales, Jang-Ho Cha, Beth Borowsky, Ricardo Dolmetsch, Beverly L. Davidson, Rajeev Sivasankaran
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Huntington’s disease (HD) results from the abnormal expansion of CAG repeats in exon 1 of the HTT gene. Here, the authors show that orally available, brain penetrant molecule branaplam lowers HTT transcript by promoting inclusion of a poison exon o
Externí odkaz:
https://doaj.org/article/917384fbd2e34e4887d645320e87dd19
Autor:
Jacqueline Gire O’Rourke, Jaclyn R. Gareau, Joseph Ochaba, Wan Song, Tamás Raskó, David Reverter, John Lee, Alex Mas Monteys, Judit Pallos, Lisa Mee, Malini Vashishtha, Barbara L. Apostol, Thomas Peter Nicholson, Katalin Illes, Ya-Zhen Zhu, Mary Dasso, Gillian P. Bates, Marian Difiglia, Beverly Davidson, Erich E. Wanker, J. Lawrence Marsh, Christopher D. Lima, Joan S. Steffan, Leslie M. Thompson
Publikováno v:
Cell Reports, Vol 4, Iss 2, Pp 362-375 (2013)
A key feature in Huntington disease (HD) is the accumulation of mutant Huntingtin (HTT) protein, which may be regulated by posttranslational modifications. Here, we define the primary sites of SUMO modification in the amino-terminal domain of HTT, sh
Externí odkaz:
https://doaj.org/article/2cae4460f6614c9f87bd7c29ab921075
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 4, Iss C (2015)
Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by CAG repeat expansion in exon 1 of huntingtin (HTT). Studies in mouse models of HD with a regulated mutant transgene show that continuous mutant allele expression
Externí odkaz:
https://doaj.org/article/6cfa4af9168a4d46b7bb2e1c9dab5b25
Autor:
Fang, Li, Monteys, Alex Mas, Dürr, Alexandra, Keiser, Megan, Cheng, Congsheng, Harapanahalli, Akhil, Gonzalez-Alegre, Pedro, Davidson, Beverly L., Wang, Kai
Publikováno v:
In Human Genetics and Genomics Advances 12 January 2023 4(1)
Autor:
Sibtain M Moledina, Elizabeth Kwiyolecha, Diana Isingo, Pauline Chale, Mwanaada Kilima, Luth Mwapule, Alex Masao, Jude Tarimo, Godfrey Chuwa, Joseph Duttu, Sylvia B. Nsato, Evans Liseki, Grace Shayo, Hedwiga F. Swai
Publikováno v:
Radiology Case Reports, Vol 19, Iss 10, Pp 4493-4496 (2024)
Foreign body aspiration in an uncommon entity in adults which often leads to delays in diagnosis. Adults with long-standing foreign bodies in the airway can result in various complications including bronchiectasis, atelectasis and lung fibrosis. We d
Externí odkaz:
https://doaj.org/article/64a61dd03df64678922620bab3c3877a
Cultural and socioeconomic differences stratify human societies and shape their genetic structure beyond the sole effect of geography. Despite mating being limited by the permeability of sociocultural stratification, most demographic models in popula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36ec71e48da6b4a11fd8358f038eba88
https://doi.org/10.1101/2022.11.16.516754
https://doi.org/10.1101/2022.11.16.516754
