“…The presence and impact of recessive lethal mutations have been widely documented in diploid outcrossing species. …”
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“…BACKGROUND: The pathogenic missense mutations of the gelsolin (GSN) gene lead to familial amyloidosis of the Finnish type (FAF); however, our previous study identified GSN frameshift mutations existed in patients with Alzheimer’s disease (AD). …”
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“…Recurrent mutation produces multiple copies of the same allele which may be co-segregating in a population. …”
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“…We also perform in silico evolution experiments under the regime of strong selection and weak mutation (SSWM) and show that chromatin accessibility can be extremely malleable despite its mutational robustness. …”
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“…Tumors with TERT promoter mutations had significantly more somatic mutations (average: 6.5 vs. 1.8, P < 0.001). …”
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“…SIMPLE SUMMARY: There is a lack of molecular biomarkers that would allow better characterisation and categorisation of gastric tumours. Distinct mutational patterns have been observed at both the whole genome and exome levels and have been referred to as mutational signatures. …”
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“…This study aimed to provide an experimental approximation to the V. vulnificus mutation rate by determining spontaneous mutation rates from bacterial cultures of representants of the different lineages by whole-genome sequencing. …”
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“…CASE PRESENTATION: Five patients are included in this case series. Gene mutations associated with familial Mediterranean fever, Yao syndrome, Cryopyrin-associated periodic syndrome, and Majeed syndrome were considered to explain partly the patient’s clinical manifestation after comprehensive clinical, biochemical, hematological investigations ruled out other disorders such as parasitosis, Allergic Bronchopulmonary Fungosis, Eosinophilic Granulomatosis with Poly Angitis, IgG4 disease, and Hypereosinophilia syndrome. …”
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“…Ataxia-telangiectasia mutated (ATM), a master kinase of the DNA damage response (DDR), phosphorylates a multitude of substrates to activate signaling pathways after DNA double-strand breaks (DSBs). …”
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“…When using new generation sequencing of 21 targeted genes in 124 HCL patients, we identified a cohort of 6/124 (2%) patients with unusual BRAF mutations: two patients presented non‐V600 mutations (BRAF F595L, BRAF W604L respectively) and four other patients silent BRAF mutations. …”
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“…Notably, we identified a 7-gene panel (MLH3, NACA, NOTCH1, NPAP1, RANBP17, TSC2, and ZFHX4) as a novel prognostic signature in NENs; patients who carried mutations in any of the 7 genes exhibited significantly poorer survival. …”
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“…The comprehension of the mutation landscape of the disease in conjunction with the use of precision medicine will aid in individualized, targeted therapies for treatment. …”
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“…We study polynomial identities satisfied by the mutation product [Formula: see text] on the underlying vector space of an associative algebra A, where p, q are fixed elements of A. …”
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“…Our case is unique given that our patient had two genetic mutations. Amongst all forms of MODY, HNF4a with a prevalence of 5% to 10% is the third most common mutation of MODY. …”
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“…Experiments on tropical trees suggest that new mutations in plants are driven by age rather than number of cell divisions during growth.…”
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“…β-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. …”
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