Results 11 to 20 of about 1,458 (100)

Severe nonketotic hyperglycinaemia due to a synonymous variant

Molecular Genetics and Metabolism Reports
Nonketotic hyperglycinaemia (NKH) is an autosomal recessive neurometabolic disorder resulting from deficient glycine cleavage system activity, causing severe neurological impairment.
Ping Pang, Lin Wan, Yan Liang, Xia Zhao, Guang Yang   +4 more
doaj   +3 more sources

Decoding the effects of synonymous variants [PDF]

Nucleic Acids Research, 2021
ABSTRACT Synonymous single nucleotide variants (sSNVs) are common in the human genome but are often overlooked. However, sSNVs can have significant biological impact and may lead to disease. Existing computational methods for evaluating the effect of sSNVs suffer from the lack of gold-standard training/evaluation data and exhibit over ...
Zishuo Zeng, Ariel A Aptekmann, Yana Bromberg   +2 more
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Molecular characterization of a novel synonymous variant in a Mexican patient with Pompe disease

Molecular Genetics and Metabolism Reports
Introduction: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of lysosomal acid alpha-1,4-glucosidase (GAA; EC 3.2.1.20), encoded by the GAA gene, leading to progressive neuromuscular deterioration. The mutational spectrum of
Carmen Alaez-Verson, Carlos Alberto González-Domínguez, Imelda Vergara Sanchez, Luz María Sanchez Sanchez, Ivonne Natalia Flores, Ekaterina Kazakova, Joaquin Garcia-Solorio, Carolina Molina-Garay, Luis Leonardo Flores-Lagunes, Ivan Martínez Duncker   +9 more
doaj   +4 more sources

Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants [PDF]

Kidney360, 2022
Key Points Mutations registered in the database for autosomal Alport syndrome do not include synonymous variants.Certain synonymous variants can affect pre-mRNA splicing, and transcript analysis should be carried out to evaluate synonymous variants.Our in vivo and in vitro splicing assays ...
Rini Rossanti, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Nana Sakakibara, Shinya Ishiko, Yuya Aoto, Atsushi Kondo, Sadayuki Nagai, Eri Okada, Shingo Ishimori, Hiroaki Nagase, Satoshi Matsui, Keiichi Tamagaki, Yoshifumi Ubara, Masahiko Nagahama, Yuko Shima, Koichi Nakanishi, Takeshi Ninchoji, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu   +21 more
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Synonymous variants associated with Alzheimer disease in multiplex families [PDF]

Neurology Genetics, 2020
Synonymous variants can lead to disease; nevertheless, the majority of sequencing studies conducted in Alzheimer disease (AD) only assessed coding variation.To detect synonymous variants modulating AD risk, we conducted a whole-genome sequencing study on 67 Caribbean Hispanic (CH) families multiply affected by AD. Identified disease-associated variants
Tang, Min, Alaniz, Maria Eugenia, Felsky, Daniel, Vardarajan, Badri, Reyes-Dumeyer, Dolly, Lantigua, Rafael, Medrano, Martin, Bennett, David A., de Jager, Philip L., Mayeux, Richard, Santa-Maria, Ismael, Reitz, Christiane   +11 more
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Virtual screening to identify pathogenic functional mutations in the exon of ACTN3 gene, which codes for masseter muscle, thereby affecting mandibular morphology

Journal of Indian Academy of Oral Medicine and Radiology, 2022
Aim: To determine if In silico methods can be used to identify pathogenic non-synonymous variants in the ACTN3 (alpha actinin 3) alpha actinin gene that encodes for alpha actinin 3 three protein employing computational tools.
Vijayashree Priyadharsini Jayaseelan, Ashwin Mathew George, A Sumathi Felicita, Paramasivam Arumugam   +3 more
doaj   +1 more source

Identification of deleterious synonymous variants in human genomes [PDF]

Bioinformatics, 2013
Abstract Motivation: The prioritization and identification of disease-causing mutations is one of the most significant challenges in medical genomics. Currently available methods address this problem for non-synonymous single nucleotide variants (SNVs) and variation in promoters/enhancers; however, recent research has implicated ...
Orion J. Buske, AshokKumar Manickaraj, Seema Mital, Peter N. Ray, Michael Brudno   +4 more
openaire   +3 more sources

When a Synonymous Variant Is Nonsynonymous

Genes, 2022
Term synonymous variation is widely used, but frequently in a wrong or misleading meaning and context. Twenty three point eight % of possible nucleotide substitution types in the universal genetic code are for synonymous amino acid changes, but when these variants have a phenotype and functional effect, they are very seldom synonymous.
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A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype [PDF]

Genes, 2021
Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected. Here, we report a 17-year-old male whose main clinical
Gulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime G. Temel, Mahmut Cerkez Ergoren   +4 more
openaire   +3 more sources

Patterns of Selection on Synonymous and Nonsynonymous Variants in Drosophila miranda [PDF]

Genetics, 2005
Abstract We have investigated patterns of within-species polymorphism and between-species divergence for synonymous and nonsynonymous variants at a set of autosomal and X-linked loci of Drosophila miranda. D. pseudoobscura and D. affinis were used for the between-species comparisons.
Carolina, Bartolomé, Xulio, Maside, Soojin, Yi, Anna L, Grant, Brian, Charlesworth   +4 more
openaire   +2 more sources