First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln) [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2019 Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most missense mutations located
Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo
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Variants of CARD14 gene and psoriasis vulgaris in southern Chinese cohort [PDF]
Anais Brasileiros de Dermatologia, 2016 BACKGROUND: Recent mutation analysis identified several missense mutations in CARD14 in psoriasis. OBJECTIVES: We performed the genomic sequence analysis on CARD14 in southern Chinese Han Cantonese with Psoriasis Vulgaris (PsV) to reveal more causative ...
Kunju Zhu +4 more
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Clonal leukemic evolution in myelodysplastic syndromes with TET2 and IDH1/2 mutations
Haematologica, 2014 Somatic mutations of TET2, IDH1, and IDH2 have been described in myelodysplastic syndrome. The impact of these mutations on outcome of myelodysplastic syndrome and their progression to secondary acute myeloid leukemia remains unclear.
Tung-Liang Lin +18 more
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Cloning and DNA sequence analysis of two abortive infection phage resistance determinants from the lactococcal plasmid pNP40 [PDF]
Applied and Environmental Microbiology, 1995 Patricia Garvey +2 more
openalex +2 more sources
Investigations into the molecular effects of single nucleotide polymorphism [PDF]
, 2000 Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe
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California Fish and Wildlife Journal, 2021 The Trinity bristle snail (Monadenia setosa) is listed as a threatened species under the California Endangered Species Act (CESA). In northern California, populations of this endemic terrestrial gastropod occur in rare, isolated, and highly fragmented ...
Robert M. Sullivan
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{BiQ} Analyzer {HiMod}: An Interactive Software Tool for High-throughput Locus-specific Analysis of 5-Methylcytosine and its Oxidized Derivatives [PDF]
, 2014 Recent data suggest important biological roles for oxidative modifications of methylated cytosines, specifically hydroxymethylation, formylation and carboxylation. Several assays are now available for profiling these DNA modifications genome-wide as well
Becker, D. +5 more
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Analysis of DNA sequence variation within marine species using Beta-coalescents [PDF]
, 2011 We apply recently developed inference methods based on general coalescent processes to DNA sequence data obtained from various marine species. Several of these species are believed to exhibit so-called shallow gene genealogies, potentially due to extreme
Birkner, Matthias +2 more
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BEAST: Bayesian evolutionary analysis by sampling trees [PDF]
, 2007 Background The evolutionary analysis of molecular sequence variation is a statistical enterprise. This is reflected in the increased use of probabilistic models for phylogenetic inference, multiple sequence alignment, and molecular population genetics ...
Drummond, Alexei J., Rambaut, Andrew
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