Zobrazeno 1 - 10
of 397
pro vyhledávání: '"Genotype - phenotype relationship"'
Autor:
Victoria I. Bunik
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Externí odkaz:
https://doaj.org/article/798316d8703b4603a7127ff76953728f
Autor:
Yuepeng Hu, Jian-Min Chen, Han Zuo, Na Pu, Guofu Zhang, Yichen Duan, Gang Li, Zhihui Tong, Weiqin Li, Baiqiang Li, Qi Yang
Publikováno v:
Lipids in Health and Disease, Vol 23, Iss 1, Pp 1-10 (2024)
Abstract Background Lipoprotein lipase (LPL) plays a crucial role in triglyceride hydrolysis. Rare biallelic variants in the LPL gene leading to complete or near-complete loss of function cause autosomal recessive familial chylomicronemia syndrome. H
Externí odkaz:
https://doaj.org/article/7eacbf00ac0f4b20924505722c98d8de
Autor:
Ai Nguyen, Huaying Zhao, Dulguun Myagmarsuren, Sanjana Srinivasan, Di Wu, Jiji Chen, Grzegorz Piszczek, Peter Schuck
Publikováno v:
eLife, Vol 13 (2024)
Genetic diversity is a hallmark of RNA viruses and the basis for their evolutionary success. Taking advantage of the uniquely large genomic database of SARS-CoV-2, we examine the impact of mutations across the spectrum of viable amino acid sequences
Externí odkaz:
https://doaj.org/article/69a87aec0aa54120ac8389e03fc2cdf5
Autor:
Thomas Kuhlman
Publikováno v:
eLife, Vol 13 (2024)
A new study reveals how naturally occurring mutations affect the biophysical properties of nucleocapsid proteins in SARS-CoV-2.
Externí odkaz:
https://doaj.org/article/cf34a73b55034aa892935994176e10e4
Publikováno v:
Xin yixue, Vol 54, Iss 12, Pp 849-854 (2023)
Protein O-mannosyl-transferase 1 （POMT1） gene-encoded protein participates in the initial step of protein O-mannosylation modification and plays an important role in various physiological processes，such as cell connection and neuronal migration
Externí odkaz:
https://doaj.org/article/7733f223b65a430db3e39d890379a0e0
Autor:
Guofu Zhang, Yuepeng Hu, Qi Yang, Na Pu, Gang Li, Jingzhu Zhang, Zhihui Tong, Emmanuelle Masson, David N. Cooper, Jian-Min Chen, Weiqin Li
Publikováno v:
Lipids in Health and Disease, Vol 22, Iss 1, Pp 1-18 (2023)
Abstract Background Lipoprotein lipase (LPL) is the rate-limiting enzyme for triglyceride hydrolysis. Homozygous or compound heterozygous LPL variants cause autosomal recessive familial chylomicronemia syndrome (FCS), whereas simple heterozygous LPL
Externí odkaz:
https://doaj.org/article/6e0b2acecd7045c7b7befd71c176c5b1
Autor:
Marena Trinidad, Xinying Hong, Steven Froelich, Jessica Daiker, James Sacco, Hong Phuc Nguyen, Madelynn Campagna, Dean Suhr, Teryn Suhr, Jonathan H. LeBowitz, Michael H. Gelb, Wyatt T. Clark
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-35 (2023)
Abstract Background Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by mutations in the arylsulfatase A gene (ARSA) and categorized into three subtypes according to age of onset. The functional effect of most ARSA mutants re
Externí odkaz:
https://doaj.org/article/4606464433f9464689ed0c85be47519b
Publikováno v:
Environmental Microbiome, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Polycyclic aromatic hydrocarbon (PAH) contamination has been a worldwide environmental issue because of its impact on ecosystems and human health. Biodegradation plays an important role in PAH removal in natural environments. To d
Externí odkaz:
https://doaj.org/article/4147d42228094e409092e31b3dde82eb
Autor:
Sandra Freitag-Wolf, Jonas C. Schupp, Björn C. Frye, Annegret Fischer, Raihanatul Anwar, Robert Kieszko, Violeta Mihailović-Vučinić, Janusz Milanowski, Dragana Jovanovic, Gernot Zissel, Elena Bargagli, Paola Rottoli, Dragos Bumbacea, René Jonkers, Ling-Pei Ho, Karoline I. Gaede, Anna Dubaniewicz, Ben G. Marshall, Andreas Günther, Martin Petrek, Michael P. Keane, Sigridur O. Haraldsdottir, Francesco Bonella, Christian Grah, Tatjana Peroš-Golubičić, Zamir Kadija, Stefan Pabst, Christian Grohé, János Strausz, Martina Safrankova, Ann Millar, Jiří Homolka, Wim A. Wuyts, Lisa G. Spencer, Michael Pfeifer, Dominique Valeyre, Venerino Poletti, Hubertus Wirtz, Antje Prasse, Stefan Schreiber, Astrid Dempfle, Joachim Müller-Quernheim
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
IntroductionSarcoidosis is a highly variable disease in terms of organ involvement, type of onset and course. Associations of genetic polymorphisms with sarcoidosis phenotypes have been observed and suggest genetic signatures.MethodsAfter obtaining a
Externí odkaz:
https://doaj.org/article/ad511b3d40084d7293d0e9577c3c3078
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