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Akademický článek

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

Autor: Ivana Dabaj, Robert Y. Carlier, Klaus Dieterich, Isabelle Desguerre, Julien Faure, Norma B. Romero, Wenting Trang, Susana Quijano-Roy, Dominique P. Germain

Publikováno v: Frontiers in Genetics, Vol 13 (2023)

Background: Sheldon–Hall syndrome (SHS) or distal arthrogryposis 2B (DA2B) is a rare clinically and genetically heterogeneous multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs and mild facial i

Externí odkaz: https://doaj.org/article/3ae4d9f0200244718e5054798c47ea83

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Akademický článek

Palmitate- and C6 ceramide-induced Tnnt3 pre-mRNA alternative splicing occurs in a PP2A dependent manner

Autor: Adam J. Black, Rudolf J. Schilder, Scot R. Kimball

Publikováno v: Nutrition & Metabolism, Vol 15, Iss 1, Pp 1-9 (2018)

Abstract Background In a previous study, we showed that consumption of diets enriched in saturated fatty acids causes changes in alternative splicing of pre-mRNAs encoding a number of proteins in rat skeletal muscle, including the one encoding skelet

Externí odkaz: https://doaj.org/article/257b4ddad46b4081b90db706220814b2

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Akademický článek

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Transcriptome Profiles of the Liver in Two Cold-Exposed Sheep Breeds Revealed Different Mechanisms and Candidate Genes for Thermogenesis

Autor: Guo Yang, Ping Zhou, Hu Liu, Wenqiang Wang, Kaixi Ji, A. Allan Degen, Jianwei Zhou, Dan Jiao, Yunsheng Zhang

Publikováno v: Genetics Research, Vol 2021 (2021)

Cold-induced thermogenesis plays an important role in the survival of lambs exposed to low air temperatures. The liver produces and mediates heat production in mammals; however, to date, little is known about the role of liver genes in cold-induced t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0663d0b7ee1256ed25246a200006a8
https://doi.org/10.1155/2021/5510297

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Akademický článek

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The distal arthrogryposis‐linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3

Autor: Shaohua Tang, Lin Hu, Xueqin Xu, Huanzheng Li, Jinfang Lu, Yongliang Lou, Chenyang Xu, He Zhang, Zhaotang Luan, Zhengxiu Lin

Publikováno v: Journal of Clinical Laboratory Analysis

Background Distal arthrogryposis (DA) is comprised of a group of rare developmental disorders in muscle, characterized by multiple congenital contractures of the distal limbs. Fast skeletal muscle troponin‐T (TNNT3) protein is abundantly expressed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfe379b5ef8d1752371ac4236f6ebd62
http://europepmc.org/articles/PMC8649346

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Quantitative proteomic and phosphoproteomic analysis of chicken skeletal muscle during embryonic development

Autor: Huadong Yin, Yao Zhang, Qing Zhu, Yun Zhang, Can Cui, Shunshun Han

Publikováno v: Animal biotechnology.

Skeletal muscle also plays a vital role in regulating the movement energy storage and health of metabolism. In order to investigate the expression profile of protein and phosphor-proteins in chicken skeletal muscle during embryonic development, we pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503986b219edb02a140d89d3185f3c3b
https://pubmed.ncbi.nlm.nih.gov/34236285

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Alternative splicing regulates the physiological adaptation of the mouse hind limb postural and phasic muscles to microgravity

Autor: Jaquesta Adams, Soo C, Ting K, Pin Ha, Henrich M, Stodeick L, Chun Rf

Muscle atrophy and fiber type alterations are well-characterized physiological adaptations to microgravity with both understood to be primarily regulated by differential gene expression (DGE). While microgravity-induced DGE has been extensively inves

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c8416db1898cb8866a4c98768fa92d91
https://doi.org/10.1101/2021.05.25.445491

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Difference in potential DNA methylation impact on gene expression between fast- and slow-type myofibers

Autor: Susumu Muroya, Koichi Ojima, Mika Oe

Publikováno v: Physiological genomics. 53(2)

Skeletal muscles are comprised of two major types of myofibers, fast and slow. It is hypothesized that once myofiber type is determined, muscle fiber-type specificity is maintained by an epigenetic mechanism, however, this remains poorly understood.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db1f65206fb8109958d13335ae7dfb0d
https://pubmed.ncbi.nlm.nih.gov/33459151

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Palmitate- and C6 ceramide-induced Tnnt3 pre-mRNA alternative splicing occurs in a PP2A dependent manner

Autor: Scot R. Kimball, Adam J. Black, Rudolf J. Schilder

Publikováno v: Nutrition & Metabolism
Nutrition & Metabolism, Vol 15, Iss 1, Pp 1-9 (2018)
Nutrition & metabolism, 15:87

Background In a previous study, we showed that consumption of diets enriched in saturated fatty acids causes changes in alternative splicing of pre-mRNAs encoding a number of proteins in rat skeletal muscle, including the one encoding skeletal muscle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::badda37a93c2e377e16a5b54c9039aed
http://europepmc.org/articles/PMC6296074

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