Zobrazeno 1 - 10
of 238
pro vyhledávání: '"cryptic splice site"'
Publikováno v:
Heliyon, Vol 10, Iss 20, Pp e39128- (2024)
Chorea-acanthocytosis (ChAc) is a rare inherited disease of the nervous system. In this disease the neurological manifestations are associated with acanthocytosis of the red blood cells. The clinical features appear in the third to fourth decades of
Externí odkaz:
https://doaj.org/article/ce51f44230df46a9ba31df2da659eb4a
Autor:
Alvin Sanjaya, Ryo Nishijima, Yuki Fujii, Makoto Asano, Kotaro Ishii, Yusuke Kazama, Tomoko Abe, Makoto T. Fujiwara
Publikováno v:
Frontiers in Plant Science, Vol 15 (2024)
Pre-mRNA splicing is a fundamental process in eukaryotic gene expression, and the mechanism of intron definition, involving the recognition of the canonical GU (5’-splice site) and AG (3’-splice site) dinucleotides by splicing factors, has been p
Externí odkaz:
https://doaj.org/article/62513eeb4e4e4d34920875f490ab07c1
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
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Background Hereditary tyrosinemia type 1 (HT1; OMIM# 276700) is a genetic metabolism disorder caused by disease-causing variants in the fumarylacetoacetate hydrolase (FAH) gene encoding the last enzyme of the tyrosine catabolic pathway. Here
Externí odkaz:
https://doaj.org/article/5a3546440f25472799b978ce5550f8f6
Akademický článek
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Autor:
Weihua Huang, Liqun Zhang, Yajuan Zhu, Jingli Chen, Yawen Zhu, Fengru Lin, Xiaomei Chen, Jirong Huang
Publikováno v:
Frontiers in Plant Science, Vol 13 (2022)
Cryptic splice sites in eukaryotic genome are generally dormant unless activated by mutation of authentic splice sites or related splicing factors. How cryptic splice sites are used remains unclear in plants. Here, we identified two cryptic splicing
Externí odkaz:
https://doaj.org/article/98fa195c9faa4dc09867b21c1b7a546e
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants. Pulmonary surfactant metabolism dysfunction caused by variants in the ABCA3 gen
Externí odkaz:
https://doaj.org/article/eda467cc50d148e2abbae6b164ce2475
Autor:
Yupei Wang, Chuan Zhang, Bingbo Zhou, Ling Hui, Lei Zheng, Xue Chen, Shifan Wang, Lan Yang, Shengju Hao, Qinghua Zhang
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Ectodysplasin A (EDA) variations are major pathogenic factors for hypohidrotic ectodermal dysplasia (HED), the most common form of ectodermal dysplasia (ED), characterized by hypotrichosis, hypohidrosis, hypodontia, and other oral feature
Externí odkaz:
https://doaj.org/article/5211740d0e82493f9f9a8cdb20637ccd
Autor:
Marlen Colleen Reis, Julia Patrun, Nibal Ackl, Pia Winter, Maximilian Scheifele, Adrian Danek, Dagmar Nolte
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Heterozygous pathogenic variants in the STIP1 homologous and U-box containing protein 1 (STUB1) gene have been identified as causes of autosomal dominant inherited spinocerebellar ataxia type 48 (SCA48). SCA48 is characterized by an ataxic movement d
Externí odkaz:
https://doaj.org/article/2095825f2fb84ecd89d68889b42fd778