Results 131 to 140 of about 199,160 (290)
Advanced Genetics, EarlyView.Here, causal relations are examined between 2940 plasma proteins and 19 cardiovascular diseases (CVD) using a human genetics‐based method. 218 proteins are found whose blood levels influence CVD risks, with about half being new discoveries and largely confirmed in an independent cohort.
Chen Li +13 more
wiley +1 more source
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
BMC Genetics, 2012 Background Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation ...
Damé Maria Cecília +6 more
doaj +1 more source
A Upf3b-mutant mouse model with behavioral and neurogenesis defects. [PDF]
, 2018 Nonsense-mediated RNA decay (NMD) is a highly conserved and selective RNA degradation pathway that acts on RNAs terminating their reading frames in specific contexts.
Cook-Andersen, H +14 more
core +1 more source
Investigation on Klebsiella pneumoniae in the field of extracellular vesicles
Interdisciplinary Medicine, EarlyView.The role of extracellular vesicles in the pathogenicity and antibiotic resistance, as well as treatment and prevention of Klebsiella pneumoniae. Abstract Klebsiella pneumoniae (KP), recognized for its pronounced antibiotic resistance, is a prevalent agent of nosocomial infections such as hospital‐acquired pneumonia.
Junwei Wu +10 more
wiley +1 more source
BMC Biotechnology, 2018 Background Nonsense mutations promote premature translational termination, introducing stop codons within the coding region of mRNAs and causing inherited diseases, including thalassemia.
Francesca Salvatori +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
core +1 more source
New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, EarlyView.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
\u3cem\u3eFRIGIDA LIKE 2\u3c/em\u3e Is a Functional Allele in Landsberg \u3cem\u3eerecta\u3c/em\u3e and Compensates for a Nonsense Allele of \u3cem\u3eFRIGIDA LIKE 1\u3c/em\u3e [PDF]
, 2006 The Landsberg erecta (Ler) accession of Arabidopsis (Arabidopsis thaliana) has a weak allele of the floral inhibitor FLOWERING LOCUS C (FLC). FLC-Ler is weakly up-regulated by the active San Feliu-2 (Sf2) allele of FRIGIDA (FRI-Sf2), resulting in a ...
Schläppi, Michael
core +1 more source
CRISPR/Cas9 Knockout of Shell Matrix Protein 1 in the Slipper‐Snail Crepidula atrasolea
Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.Methods for CRISPR/Cas9 shell matrix protein knockout in the snail, Crepidula atrasolea including optimizing RNP delivery and embryo husbandry, to the use of Sanger and MiSeq sequencing, and high‐content screening of embryos to characterize the loss of Shell Matrix Protein 1 (SMP1) during larval shell development.
Grant Batzel +13 more
wiley +1 more source
Journal of the Science of Food and Agriculture, EarlyView.Abstract BACKGROUND Quinoa (Chenopodium quinoa) is valued for its nutritional benefits and resilience to abiotic stresses. However, its commercial use is limited by bitter‐tasting saponins on the seeds, necessitating resource‐intensive removal processes.
Marius Kollmar +7 more
wiley +1 more source