Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23971
Abstract: The mechanisms underlying de novo insertion/deletion (indel) genesis, such as polymerase slippage, have been hypothesized but not well characterized in the human genome. We implemented two methodological improvements, which were leveraged to dissect indel mutagenesis.… read more here.
Keywords: parent origin; insertion deletion; biology; origin phasing ... See more keywords
Role of angiotensin‐converting enzyme insertion/deletion polymorphism in sudden cardiac arrest
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cellular Biochemistry"
DOI: 10.1002/jcb.27622
Abstract: This study aimed to investigate the relationship between angiotensin‐converting enzyme (ACE) insertion/deletion (I/D) polymorphism and to understand sudden cardiac arrest (SCA) in the Chinese population. read more here.
Keywords: sudden cardiac; deletion polymorphism; insertion deletion; converting enzyme ... See more keywords
The angiotensin‐converting enzyme insertion/deletion polymorphism rs4340 associates with habitual physical activity among European American adults
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.308
Abstract: The angiotensin‐converting enzyme (ACE) insertion/deletion (I/D) polymorphism (rs4340) (ACE DIP) accounts for half of the variability in plasma ACE concentrations. ACE has been widely studied for its influence on sports performance; however, research on its… read more here.
Keywords: deletion polymorphism; insertion deletion; converting enzyme; angiotensin converting ... See more keywords
Ethnic and age-specific acute lung injury/acute respiratory distress syndrome risk associated with angiotensin-converting enzyme insertion/deletion polymorphisms, implications for COVID-19: A meta-analysis
Sign Up to like & getrecommendations! Published in 2020 at "Infection, Genetics and Evolution"
DOI: 10.1016/j.meegid.2020.104682
Abstract: Background The reported association between an insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme (ACE) gene and the risk for acute lung injury (ALI)/acute respiratory distress syndrome (ARDS) remains controversial despite the publication of four meta-analyses… read more here.
Keywords: risk; acute; analysis; insertion deletion ... See more keywords
Prediction of acute renal allograft rejection by combined HLA-G 14-bp insertion/deletion genotype analysis and detection of kidney injury molecule-1 and osteopontin in the peripheral blood.
Sign Up to like & getrecommendations! Published in 2021 at "Transplant immunology"
DOI: 10.1016/j.trim.2021.101371
Abstract: INTRODUCTION Acute renal rejection usually fails to be diagnosed before the increase in the serum creatinine levels, and the resultant damage to the renal tissues occur in varying degrees. We hypothesized that the combined detection… read more here.
Keywords: rejection; group; insertion deletion; acute renal ... See more keywords
Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Human Genome Variation"
DOI: 10.1038/s41439-019-0078-2
Abstract: Rett syndrome (RTT) is an X-linked progressive and severe neurological disorder caused by mutations in the gene encoding methyl CpG binding protein 2 (MECP2). Among the 49 typical RTT patients examined, we identified 10 novel… read more here.
Keywords: variants mecp2; rett syndrome; insertion deletion; deletion variants ... See more keywords
Insertion/deletion (Indel) variant of the goat RORA gene is associated with growth traits.
Sign Up to like & getrecommendations! Published in 2022 at "Animal biotechnology"
DOI: 10.1080/10495398.2022.2078980
Abstract: RAR related orphan receptor A (RORA), which encodes the retinoid-acid-related orphan receptor alpha (RORα), is a clock gene found in skeletal muscle. Several studies have shown that RORα plays an important role in bone formation,… read more here.
Keywords: rora gene; deletion; growth; deletion indel ... See more keywords
Irregular Marker Codes for Insertion/Deletion-AWGN Channels
Sign Up to like & getrecommendations! Published in 2020 at "IEEE Access"
DOI: 10.1109/access.2020.2980321
Abstract: A concatenated coding scheme employing an irregular marker code as the inner code is designed to improve the ability of correcting insertions/deletions. In this scheme, bits associated with each marker symbol are allocated to the… read more here.
Keywords: codes insertion; insertion deletion; marker; marker codes ... See more keywords
Correcting “insertion‐deletion mutations” in medical terminology
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.13875
Abstract: The human genome and written language share analogous substructures: linear strings of letters forming functional‐structural molecular units resemble alphabetical letters which, arranged in a linear fashion, form words; these strings become more than the sum… read more here.
Keywords: medicine; terminology; insertion deletion; disease ... See more keywords
Insertion-and-Deletion Mutations between the Genomes of SARS-CoV, SARS-CoV-2, and Bat Coronavirus RaTG13
Sign Up to like & getrecommendations! Published in 2022 at "Microbiology Spectrum"
DOI: 10.1128/spectrum.00716-22
Abstract: The developmental mechanism of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) remains inconclusive. This study compared the base sequence one-by-one between severe acute respiratory syndrome coronavirus (SARS-CoV) or bat coronavirus RaTG13 and SARS-CoV-2. ABSTRACT The… read more here.
Keywords: insertion deletion; coronavirus; deletion mutations; sars cov ... See more keywords
Insertion/deletion-activated frame-shift fluorescence protein is a sensitive reporter for genomic DNA editing
Sign Up to like & getrecommendations! Published in 2019 at "BMC Genomics"
DOI: 10.1186/s12864-019-5963-z
Abstract: BackgroundReporter methods to quantitatively measure the efficiency and specificity of genome editing tools are important for the development of novel editing techniques and successful applications of available ones. However, the existing methods have major limitations… read more here.
Keywords: reporter; fluorescence protein; insertion deletion; fluorescence ... See more keywords