Zobrazeno 1 - 10
of 2 957
pro vyhledávání: '"chromosome 19"'
Autor:
Irina Shilenok, Ksenia Kobzeva, Alexey Deykin, Vladimir Pokrovsky, Evgeny Patrakhanov, Olga Bushueva
Publikováno v:
Life, Vol 14, Iss 9, p 1158 (2024)
The unique chaperone-like properties of C19orf53, discovered in 2020 as a “hero” protein, make it an intriguing subject for research in relation to ischemic stroke (IS). Our pilot study aimed to investigate whether C19orf53 SNPs are associated wi
Externí odkaz:
https://doaj.org/article/0aefef2aac67495e8949ea8ee6f902b3
Autor:
Katsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, Tasuku Mariya, Rie Kawamura, Makiko Tsutsumi, Hidehito Inagaki, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 575-580 (2022)
Abstract Maple syrup urine disease (MSUD) is a rare autosomal recessive inherited disorder of branched‐chain amino acid metabolism caused by mutations in BCKDHA, BCKDHB, and DBT that encode the E1α, E1β, and E2 subunits of the branched‐chain α
Externí odkaz:
https://doaj.org/article/8e7589776bf14c6183443ec6dc96316b
Autor:
Liping Zeng, Ziyun He, Di Liu, Kai Li, Kesheng Gu, Qi Sun, Guisen Mei, Yingxue Zhang, Shengkai Yan, Feng Zhang
Publikováno v:
Heliyon, Vol 9, Iss 4, Pp e14943- (2023)
To locate the specific susceptibility genes of a high incidence of schizoaffective disease (SAD) with autonomic dominant inheritance, we recruited a family group from Henan Province with a high incidence of SAD, including 19 individuals sampled from
Externí odkaz:
https://doaj.org/article/55854f20ac9c4fab82d95992018b492d
Akademický článek
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Autor:
Dingbin Tang, Hanqing Zhao, Yumeng Wu, Bo Peng, Zhenchao Gao, Yinyan Sun, Jinzhi Duan, Yonghe Qi, Yunfei Li, Zhongmin Zhou, Guilan Guo, Yu Zhang, Cheng Li, Jianhua Sui, Wenhui Li
Publikováno v:
Cell Reports, Vol 35, Iss 13, Pp 109288- (2021)
Summary: The hepatitis B virus (HBV) infects 257 million people worldwide. HBV infection requires establishment and persistence of covalently closed circular (ccc) DNA, a viral episome, in nucleus. Here, we study cccDNA spatial localization in the 3D
Externí odkaz:
https://doaj.org/article/f10902dffb3d412496b93589006a0e64
Akademický článek
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Autor:
Berghs, Stanny, Aggujaro, Diego, Dirkx,, Ronald, Maksimova, Elena, Stabach, Paul, Hermel, Jean-Michel, Zhang, Jian-Ping, Philbrick, William, Slepnev, Vladimir, Ort, Tatiana, Solimena, Michele
Publikováno v:
The Journal of Cell Biology, 2000 Nov . 151(5), 985-1001.
Externí odkaz:
https://www.jstor.org/stable/1620240
Akademický článek
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Autor:
Jiyang Jiang, Anbupalam Thalamuthu, Jennifer E. Ho, Anubha Mahajan, Weronica E. Ek, David A. Brown, Samuel N. Breit, Thomas J. Wang, Ulf Gyllensten, Ming-Huei Chen, Stefan Enroth, James L. Januzzi, Lars Lind, Nicola J. Armstrong, John B. Kwok, Peter R. Schofield, Wei Wen, Julian N. Trollor, Åsa Johansson, Andrew P. Morris, Ramachandran S. Vasan, Perminder S. Sachdev, Karen A. Mather
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Blood levels of growth differentiation factor-15 (GDF-15), also known as macrophage inhibitory cytokine-1 (MIC-1), have been associated with various pathological processes and diseases, including cardiovascular disease and cancer. Prior studies sugge
Externí odkaz:
https://doaj.org/article/23053b96d5204c01b4adde1b2d257070
Autor:
Roberta Battini, Luca Bruschini, Beatrice Franciosi, Stefano Berrettini, Gemma Marinella, Francesco Lazzerini, Francesca Forli
Publikováno v:
Audiology Research
Audiology Research, Vol 11, Iss 55, Pp 609-617 (2021)
Audiology Research, Vol 11, Iss 55, Pp 609-617 (2021)
Perrault syndrome (PRLTS) is a rare autosomal recessive disorder characterised by ovarian failure in females and sensorineural hearing loss (SNHL) in both genders. In the present paper we describe a child affected by PRLTS3, due to CLPP homozygous mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9551082dcdadfed953ff34e8895e95a
http://europepmc.org/articles/PMC8628573
http://europepmc.org/articles/PMC8628573