Results 81 to 90 of about 151,372 (221)
Respiratory Research, 2009 Background Autosomal dominant inheritance of germline mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene are a major risk factor for pulmonary arterial hypertension (PAH). While previous studies demonstrated a difference in severity
Wheeler Lisa A +10 more
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A Family with A Missense Mutation in the SCN5A Gene
Korean Circulation Journal, 2003 Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST- segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations in the cardiac sodium channel gene, SCN5A, and to the best of our knowledge, there has been no report of this mutation in ...
Yong Bock Choi +8 more
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A missense mutation makes a mess of Ca2+ sensing [PDF]
Journal of General Physiology, 2017 A new JGP study shows how a disease-causing mutation in RyR2 dramatically alters channel behavior.
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Shanghai Jiaotong Daxue xuebao. Yixue banObjective·To explore EDAR (ectodysplasin A receptor) gene variants that lead to congenital tooth agenesis, and preliminarily analyze the reasons why variants in EDAR can cause both syndromic and non-syndromic tooth agenesis.Methods·Patients with ...
LAN Rong +6 more
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Cell Communication and SignalingTP53 mutation (TP53-mut) correlates with inferior survival in many cancers, whereas its prognostic role in diffuse large B-cell lymphoma (DLBCL) is still in controversy.
Kai-Xin Du +14 more
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Suppression of a VP1 mutant of simian virus 40 by missense mutations in serine codons of the viral agnogene [PDF]
, 1983 Robert F. Margolskee, Daniel Nathans
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α-Smooth Muscle Actin and ACTA2 Gene Expressions in Vasculopathies
Brazilian Journal of Cardiovascular Surgery, 2015 α-smooth muscle actin, encoded by ACTA2 gene, is an isoform of the vascular smooth muscle actins, typically expressed in the vascular smooth muscle cells contributing to vascular motility and contraction. ACTA2 gene mutations cause a diversity of diffuse
Shi-Min Yuan
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A Dutch family with moderately severe hemophilia B (Factor IXHeerde) has a missense mutation identical to that of factor lXLondon 2 [PDF]
, 1989 S R Poort +3 more
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ALPHAGMUT: A Rationale-Guided Alpha Shape Graph Neural Network to Evaluate Mutation Effects [PDF]
arXivIn silico methods evaluating the mutation effects of missense mutations are providing an important approach for understanding mutations in personal genomes and identifying disease-relevant biomarkers. However, existing methods, including deep learning methods, heavily rely on sequence-aware information, and do not fully leverage the potential of ...
arxiv
Population genetics of translational robustness [PDF]
arXiv, 2005 Recent work has shown that expression level is the main predictor of a gene’s evolutionary rate, and that more highly expressed genes evolve slower. A possible explanation for this observation is selection for proteins which fold properly despite mistranslation, in short selection for translational robustness.
arxiv