The phenotype of many independently isolated +1 frameshift suppressor mutants supports a pivotal role of the P-site in reading frame maintenance. [PDF]
PLoS ONE, 2013 The main features of translation are similar in all organisms on this planet and one important feature of it is the way the ribosome maintain the reading frame.
Gunilla Jäger +2 more
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A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family [PDF]
International Journal of Ophthalmology, 2022 AIM: To identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS). METHODS: A Chinese family, including four affected patients and four healthy siblings, was recruited. All family members received
Hong-Yan Sun +7 more
doaj +1 more source
Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9 [PDF]
, 2018 Duchenne muscular dystrophy (DMD) is a fatal, X-linked muscle wasting disease caused by mutations in the DMD gene. In 51% of DMD cases, a reading frame is disrupted because of deletion of several exons.
Cappellari, O +9 more
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C1 Inhibitor Gene Sequence Facilitates Frameshift Mutations [PDF]
Molecular Medicine, 1998 Mutations disrupting the function or production of C1 inhibitor cause the disease hereditary angioneurotic edema. Patient mutations identified an imperfect inverted repeat sequence that was postulated to play a mechanistic role in the mutations. To test this hypothesis, the inverted repeat was cloned into the chloramphenicol acetyltransferase gene in ...
J J, Bissler, Q S, Meng, T, Emery
openaire +2 more sources
Novel loss‐of‐function mutation in MCM8 causes premature ovarian insufficiency
Molecular Genetics & Genomic Medicine, 2020 Background Premature ovarian insufficiency (POI) is one major cause of female infertility, minichromosome maintenance complex component 8 (MCM8) has been reported to be responsible for POI.
Ya‐Xin Zhang +8 more
doaj +1 more source
Novel Frameshift Mutations near Short Simple Repeats [PDF]
Journal of Biological Chemistry, 2001 In patients with Alzheimer's disease or Down's syndrome, the cerebellar cortex exhibits protein deposits in neurofibrillary tangles and neuritic plaques. Recently, the deposits have been shown to contain protein fragments of ubiquitin-B and amyloid precursor protein (APP) with an aberrant carboxyl terminus resulting from frameshift mutations ...
Hurk, W.H. van den +3 more
openaire +4 more sources
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. [PDF]
, 2019 Cleft lip with/without cleft palate (CLP) is a common craniofacial malformation with complex etiologies, reflecting both genetic and environmental factors. Most of the suspected genetic risk for CLP has yet to be identified. To further classify risk loci
Asrani, Kripa +4 more
core +2 more sources
Lack of complex I activity in human cells carrying a mutation in MtDNA-encoded ND4 subunit is corrected by the Saccharomyces cerevisiae NADH-quinone oxidoreductase (NDI1) gene [PDF]
, 2001 The gene for the single subunit, rotenone-insensitive, and flavone-sensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae (NDI1) can completely restore the NADH dehydrogenase activity in mutant human cells that lack the essential ...
Attardi, Giuseppe +7 more
core +1 more source
Case Reports in Genetics, 2020 This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.
Xiafei Dai +8 more
doaj +1 more source
Very Rare Complementation between Mitochondria Carrying Different Mitochondrial DNA Mutations Points to Intrinsic Genetic Autonomy of the Organelles in Cultured Human Cells [PDF]
, 2000 In the present work, a large scale investigation was done regarding the capacity of cultured human cell lines (carrying in homoplasmic form either the mitochondrial tRNALys A8344G mutation associated with the myoclonic epilepsy and ragged red fiber ...
Attardi, Giuseppe +3 more
core +1 more source