NONSENSE MUTATIONS AFFECTING THE his4 ENZYME COMPLEX OF YEAST [PDF]
, 1969 Barbara Shaffer +2 more
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Connexin40 nonsense mutation in familial atrial fibrillation
International Journal of Molecular Medicine, 2010 Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia associated with substantial morbidity and mortality. Genetic variants play important roles in the pathogenesis of AF. However, AF is a genetically heterogeneous disorder, and the genetic determinants in most patients with AF remain to be identified.
Hai-Feng Shi +7 more
openaire +3 more sources
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
Therapeutic Advances in Neurological Disorders, 2010 Duchenne muscular dystrophy (DMD) is the most common, lethal, X-linked genetic disease, affecting 1 in 3500 newborn males. It is caused by mutations in the DMD gene.
Vinod Malik +3 more
doaj +1 more source
Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain. [PDF]
, 1976 R. M. Winslow +5 more
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Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa. [PDF]
, 2017 Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of functional type VII collagen, leading to skin fragility and subsequent trauma-induced separation of the epidermis from the underlying dermis ...
Atanasova, Velina S. +10 more
core +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer
Cell Reports, 2016 Disordered transcriptomes of cancer encompass direct effects of somatic mutation on transcription, coordinated secondary pathway alterations, and increased transcriptional noise.
Adam Shlien +36 more
doaj +1 more source
beta 0 thalassemia, a nonsense mutation in man. [PDF]
, 1979 Judy C. Chang, Y Kan
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