Results 21 to 30 of about 27,823 (222)

Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome

Frontiers in Genetics, 2022
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that canonically affects the ocular, skeletal, and cardiovascular system, in which aortic tear and rupture is the leading cause of death for MFS patients.
Kui Hu, Yun Wan, Fu-Tsuen Lee, Fu-Tsuen Lee, Jinmiao Chen, Hao Wang, Haonan Qu, Tao Chen, Wang Lu, Zhenwei Jiang, Lufang Gao, Xiaojuan Ji, Liqun Sun, Daokang Xiang   +13 more
doaj   +1 more source

Synonymous alterations of cancer-associated Trp53 CpG mutational hotspots cause fatal developmental jaw malocclusions but no tumors in knock-in mice.

PLoS ONE, 2023
Intragenic CpG dinucleotides are tightly conserved in evolution yet are also vulnerable to methylation-dependent mutation, raising the question as to why these functionally critical sites have not been deselected by more stable coding sequences.
Richard J Epstein, Frank P Y Lin, Robert A Brink, James Blackburn   +3 more
doaj   +2 more sources

Gene-based whole genome sequencing meta-analysis of 250 circulating proteins in three isolated European populations

Molecular Metabolism, 2022
Objective: Deep sequencing offers unparalleled access to rare variants in human populations. Understanding their role in disease is a priority, yet prohibitive sequencing costs mean that many cohorts lack the sample size to discover these effects on ...
Arthur Gilly, Lucija Klaric, Young-Chan Park, Grace Png, Andrei Barysenka, Joseph A. Marsh, Emmanouil Tsafantakis, Maria Karaleftheri, George Dedoussis, James F. Wilson, Eleftheria Zeggini   +10 more
doaj   +1 more source

Genomic features defining exonic variants that modulate splicing [PDF]

Genome Biology, 2010
Abstract Background Single point mutations at both synonymous and non-synonymous positions within exons can have severe effects on gene function through disruption of splicing. Predicting these mutations in silico purely from the genomic sequence is difficult due to an incomplete understanding of the ...
Woolfe, Adam, Mullikin, James C, Elnitski, Laura   +2 more
openaire   +2 more sources

Genetic and clinical characteristics of Japanese cystinuria with exon and exon–intron boundary variants

Scientific Reports
Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b0,+AT will cause Cystinuria. The current work analyzed the clinical and genetic characteristics of Japanese Cystinuria patients. In total, 101 Cystinuria patients were studied.
Sakamoto, Shinichi, Naya, Yukio, Rii, Junryo, Taguchi, Kazumi, Fujimura, Masaaki, Shigeta, Yasuhiro, Chairoungdua, Arthit, Nishimura, Motoi, Wakai, Ken, Yamada, Yasutaka, Zhao, Xue, Imamura, Yusuke, Tajima, Sawako, Sato, Natsumi, Hosaka, Chiaki, Sekine, Mizuka, Ueda, Takeshi, Hamamoto, Shuzo, Yasui, Takahiro, Kanai, Yoshikatsu, Akakura, Koichiro, Ikehara, Yuzuru, Anzai, Naohiko, Ichikawa, Tomohiko   +23 more
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Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

Frontiers in Medicine, 2022
BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling.
Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source

SCN1A exon 26 variants in epilepsy and migraine patients [PDF]

Journal of thee Medical Sciences (Berkala Ilmu Kedokteran), 2018
Epilepsy and migraine are common neurological diseases in many populations. Mutation of the voltage gated natrium channel Nav1.1 (SCN1A) are important causes of different genetic epilepsies and can also cause familial hemiplegic migraine (FHM-III). This study aimed to identify SCN1A gene variation in patients with epilepsy and common migraine.
Lestari, Nova Dian, Mutiawati, Endang, Sadewa, Ahmad Hamim, Sjahrir, Hasan, Syahrul, ., Emril, Dessy Rakhmawati, Harapan, .   +6 more
openaire   +2 more sources

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient

Molecular Genetics & Genomic Medicine, 2020
Background Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases ...
Tiziana Fioretti, Silvana Ungari, Maria Savarese, Fabio Cattaneo, Enza Pirozzi, Gabriella Esposito   +5 more
doaj   +1 more source

The First Korean Case of SLC12A3 Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis

Case Reports in Nephrology and Dialysis, 2021
Gitelman syndrome is a salt-losing tubular disorder that is transmitted as an autosomal recessive trait. Variants in the SLC12A3 gene are found in the majority of Gitelman syndrome patients. A 26-year-old woman visited the genetic counseling clinic.
Kiwoong Ko, Jong-Won Kim
doaj   +1 more source

CD44 variant exon v5 encodes a tyrosine that is sulphated [PDF]

European Journal of Biochemistry, 1998
Functional differences between members of the CD44 family of cell surface glycoproteins is mediated in part by differential post‐translational modification of these proteins and by alternative splicing. Tyrosine sulphation is a secondary modification of the primary amino acid structure of a number of secreted, transmembrane and lysosomal proteins ...
Sleeman, J. P., Rahmsdorf, U., Steffen, A., Ponta, H., Herrlich, P.   +4 more
openaire   +2 more sources