Zobrazeno 1 - 10
of 1 730
pro vyhledávání: '"RARE VARIANT"'
Autor:
Saeko Yamada, Yasuo Nagafuchi, Mamiko Yamada, Hisato Suzuki, Bunki Natsumoto, Mineto Ota, Ikuo Takazawa, Hiroaki Hatano, Masanori Kono, Hiroaki Harada, Hirofumi Shoda, Tomohisa Okamura, Kenjiro Kosaki, Keishi Fujio
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
BackgroundIKBKE is a negative regulator of T cell activation and one of the key activators of type I interferon (IFN) and NFκB signaling via non-classical pathways. The upstream single nucleotide polymorphism of IKBKE (rs2297550-G) is a genome-wide
Externí odkaz:
https://doaj.org/article/795e72926e734b94bacef5fe13f5d9b6
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 07, Pp 20-22 (2024)
Diffuse Sclerosing Variant of Papillary Thyroid Carcinoma (DSV-PTC) is a rare and aggressive subtype of Papillary Thyroid Carcinoma (PTC) The prognosis of this variant is as good as classic PTC, but close follow-up is necessary because of frequent tu
Externí odkaz:
https://doaj.org/article/45589c9cf1e34ed2a23a1aef3a1fd0d9
Autor:
Tess D. Pottinger, Joshua E. Motelow, Gundula Povysil, Cristiane A. Martins Moreno, Zhong Ren, Hemali Phatnani, The New York Genome Center ALS Sequencing Consortium, Timothy J. Aitman, Javier Santoyo-Lopez, Scottish Genomes Partnership, Hiroshi Mitsumoto, ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators, David B. Goldstein, Matthew B. Harms
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-11 (2024)
Abstract Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting over 300,000 people worldwide. It is characterized by the progressive decline of the nervous system that leads to the weakening of muscles which impacts
Externí odkaz:
https://doaj.org/article/77b804dfb5a346ffb655ea53c881d520
Autor:
Kenneth Keen Yip Chew, Madison Boot, Katelyn Wilson, Cameron Sowter, Wei Xuan, Raymond Stanton, Paul Bergamin
Publikováno v:
Société Internationale d’Urologie Journal, Vol 5, Iss 2, Pp 133-141 (2024)
Background: Signet ring cell adenocarcinoma (SRCC) of the bladder is a rare and aggressive histological subtype of bladder cancer. Due to its infrequency, the understanding of its clinical behaviour, treatment strategies, and outcomes remains limited
Externí odkaz:
https://doaj.org/article/7c777b6a5c244a93aa02255df2e7f23c
Autor:
Amy de Haar-Holleman, Pieter-Jan Cortoos, Jelle Vlaeminck, Paulien Van Landuyt, Stephane Steurbaut, Freya Vaeyens, Vincent Haufroid
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
Variations in the activity of the enzyme dihydropyrimidine dehydrogenase (DPD) are associated with toxicity to fluoropyrimidine-containing chemotherapy. Testing of DPD deficiency either by targeted genotyping of the corresponding DPYD gene or by quan
Externí odkaz:
https://doaj.org/article/7e18b3da531047aab7807db6f624bd1d
Autor:
Yu-Ping Tseng, Ya-Sian Chang, Venugopala R. Mekala, Ting-Yuan Liu, Jan-Gowth Chang, Grace S. Shieh
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
To identify rare variants (RVs) of gout, we sequenced the whole genomes of 321 male gout patients and combined these with those of 64 male gout patients and 682 normal controls at Taiwan Biobank. We performed ACAT-O to identify 682 significant RVs (p
Externí odkaz:
https://doaj.org/article/e5bfe966efe245289068377b7c37b2a4
Autor:
Claire E. Tume, Sophie L. Chick, Peter A. Holmans, Elliott Rees, Michael C. O’Donovan, Darren Cameron, Nicholas J. Bray
Publikováno v:
Biological Psychiatry Global Open Science, Vol 4, Iss 5, Pp 100345- (2024)
Background: The prefrontal cortex (PFC) has been strongly implicated in the pathophysiology of schizophrenia. Here, we combined high-resolution single-nuclei RNA sequencing data from the human PFC with large-scale genomic data for schizophrenia to id
Externí odkaz:
https://doaj.org/article/98a6613cea174bff997f3b04330cabb4
Autor:
Paul M. Cinciripini, David W. Wetter, Jian Wang, Robert Yu, George Kypriotakis, Tapsi Kumar, Jason D. Robinson, Yong Cui, Charles E. Green, Andrew W. Bergen, Thomas R. Kosten, Steven E. Scherer, Sanjay Shete
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Despite the large public health toll of smoking, genetic studies of smoking cessation have been limited with few discoveries of risk or protective loci. We investigated common and rare variant associations with success in quitting smoking us
Externí odkaz:
https://doaj.org/article/7508837f9caa4e14ad97cc6863aab246
Autor:
Elena De Mattia, Jerry Polesel, Marco Silvestri, Rossana Roncato, Lucia Scarabel, Stefano Calza, Michele Spina, Fabio Puglisi, Giuseppe Toffoli, Erika Cecchin
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract Background Despite a growing number of publications highlighting the potential impact on the therapy outcome, rare genetic variants (minor allele frequency
Externí odkaz:
https://doaj.org/article/43e97f65f43942da9fd70a4799972bf0
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/c48c3fd372b94f1988777888193381ae