Goat AKAP12: Indel Mutation Detection, Association Analysis With Litter Size and Alternative Splicing Variant Expression [PDF]
Frontiers in Genetics, 2021 A-kinase anchoring protein 12 (AKAP12) plays key roles in male germ cells and female ovarian granulosa cells, whereas its influence on livestock litter size remains unclear.
Zihong Kang +4 more
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Evolutionary origin of the frameshift sites in the ribosomal frameshifting genes of Euplotes [PDF]
BMC GenomicsBackground Programmed ribosome frameshifting is a translational recoding event in which ribosomes slip forward or backward along the mRNA. Although genes utilizing programmed ribosomal frameshifting for their expression have been found in most organisms,
Ruan-lin Wang +5 more
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Clade-Specific Recombination and Mutations Define the Emergence of Porcine Epidemic Diarrhea Virus S-INDEL Lineages [PDF]
AnimalsPorcine epidemic diarrhea virus (PEDV) continues to circulate globally, causing substantial economic losses to the swine industry. Historically, PEDV strains are classified into the classical G1, epidemic G2, and S-INDEL genotypes. Among these genotypes,
Yang-Yang Li +8 more
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A small indel mutation in an anthocyanin transporter causes variegated colouration of peach flowers [PDF]
Journal of Experimental Botany, 2015 Hui Zhou, Chao Gu, Yuepeng Han
exaly +2 more sources
BMC Cancer, 2021 Background Tumor mutation burden is an emerging biomarker for immunotherapy. Although several clinical trials for immunotherapy in lymphoma have been carried out, the mutation burden of various lymphomas is not well known yet. Thus, the objective of this
Junhun Cho +4 more
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Direct estimation of the mitochondrial DNA mutation rate in Drosophila melanogaster. [PDF]
PLoS Biology, 2008 Mitochondrial DNA (mtDNA) variants are widely used in evolutionary genetics as markers for population history and to estimate divergence times among taxa.
Cathy Haag-Liautard +5 more
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The novel 22 bp insertion mutation in a promoter region of the PITX2 gene is associated with litter size and growth traits in goats [PDF]
Archives Animal Breeding, 2018 The paired-like homeodomain 2 (PITX2) gene plays a critical role in regulating development, reproduction, and growth traits in ruminants. Hence, the objective of this study was to explore the polymorphisms of this gene and to evaluate their ...
H. Yan +12 more
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NMD inhibition by 5-azacytidine augments presentation of immunogenic frameshift-derived neoepitopes
iScience, 2021 Summary: Frameshifted protein sequences elicit tumor-specific T cell-mediated immune responses in microsatellite-unstable (MSI) cancers if presented by HLA class I molecules. However, their expression and presentation are limited by nonsense-mediated RNA
Jonas P. Becker +11 more
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Forensic validation studies of a novel 35-InDel multiplex polymerase chain reaction system
Journal of Forensic Science and Medicine, 2023 Background: A difficulty associated with forensic applications is the detection of degraded biological materials. Due to the large amplicon sizes of short tandem repeat alleles, valid genotyping results cannot be obtained from degraded biological ...
Tong Xie +7 more
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A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family. [PDF]
PLoS ONE, 2017 Familial hypercholesterolemia (FH) is an inherited disorder characterized by elevation of serum cholesterol bound to low-density lipoprotein. Mutations in LDLR are the major factors responsible for FH.
Hongyan Shu +8 more
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