The impact of DNMT3A variant allele frequency and two different comutations on patients with de novo cytogenetically normal acute myeloid leukemia
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Medicine"
DOI: 10.1002/cam4.5764
Abstract: To refine the biological and prognostic significance of DNMT3A mutations in acute myeloid leukemia (AML), we assessed the impact of DNMT3A variant allele frequency (VAF) and its comutations in this study. Using targeted next‐generation sequencing,… read more here.
Keywords: myeloid leukemia; dnmt3a variant; acute myeloid; impact dnmt3a ... See more keywords
Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand
Sign Up to like & getrecommendations! Published in 2017 at "New Zealand Veterinary Journal"
DOI: 10.1080/00480169.2017.1367731
Abstract: Abstract AIMS To determine the frequency of the FAS-ligand gene (FASLG) variant associated with feline autoimmune lymphoproliferative syndrome (FALPS) and the proportion of carriers of the variant in three British shorthair (BSH) breeding catteries in… read more here.
Keywords: new zealand; frequency; faslg; faslg variant ... See more keywords
MO989STUDY OF PHARMACOGENETICS OF MYCOFENOLATE MOFETIL IN KIDNEY TRANSPLANT RECIPIENTS: EXPERIENCE OF SAHLOUL HOSPITAL
Sign Up to like & getrecommendations! Published in 2021 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfab111.0013
Abstract: The pharmacokinetics and pharmacodynamics of the immunosuppressive drug mycophenolate mofetil (MMF) are subject to significant interindividual variability that affects its efficacy and toxicity. The present study focused on the genetic factors potentially involved in the… read more here.
Keywords: kidney transplant; nephrology; variant allele; rejection ... See more keywords
A variant allele of the Mediterranean‐fever gene increases the severity of gout
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Rheumatic Diseases"
DOI: 10.1111/1756-185x.12872
Abstract: Gout is a clinical syndrome that occurs as an inflammatory response to increased concentration of uric acid and monosodium urate crystals. Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance. The… read more here.
Keywords: fever; allele mediterranean; gene; variant allele ... See more keywords
Characterization of a novel variant allele, HLA‐C*08:125, identified in a Chinese Han individual
Sign Up to like & getrecommendations! Published in 2019 at "HLA"
DOI: 10.1111/tan.13528
Abstract: The novel HLA‐C*08:125 allele differs from the closest allele C*08:02:01:01 in exon 3. read more here.
Keywords: characterization novel; novel variant; hla 125; allele hla ... See more keywords
A Variant Allele in Varicella-Zoster Virus Glycoprotein B Selected during Production of the Varicella Vaccine Contributes to Its Attenuation
Sign Up to like & getrecommendations! Published in 2022 at "mBio"
DOI: 10.1128/mbio.01864-22
Abstract: The live-attenuated varicella vaccine has reduced the burden of chickenpox. Despite its development in 1974, the molecular basis for its attenuation is still not well understood. ABSTRACT Attenuation of the live varicella Oka vaccine (vOka)… read more here.
Keywords: contributes attenuation; attenuation; varicella vaccine; variant allele ... See more keywords
Genetic Polymorphisms Associated with Environmental Exposure to Polycyclic Derivatives in African Children
Sign Up to like & getrecommendations! Published in 2018 at "Disease Markers"
DOI: 10.1155/2018/9078939
Abstract: Background The nonracial leukopenia may be a result of exposure to polycyclic derivatives (benzene-toluene-xylene (BTX)) and may arise from a possible change in the bone marrow microenvironment. The present study sought to evaluate the association… read more here.
Keywords: genetic polymorphisms; polycyclic derivatives; decreased wbc; exposure polycyclic ... See more keywords
Diverse cardiac phenotypes among different carriers of the same MYH7 splicing variant allele (c.732+1G>A) from a family
Sign Up to like & getrecommendations! Published in 2022 at "BMC Medical Genomics"
DOI: 10.1186/s12920-022-01186-z
Abstract: Background Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital heart defect. Gene defections have been found in patients with LVNC and their family members; and MYH7 is the most frequent gene associated with LVNC.… read more here.
Keywords: variant allele; myh7 splicing; cardiac phenotypes; family ... See more keywords
Candidate genetic variants and antidepressant-related fall risk in middle-aged and older adults
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DOI: 10.1371/journal.pone.0266590
Abstract: Background Antidepressant use has been associated with increased fall risk. Antidepressant-related adverse drug reactions (e.g. orthostatic hypotension) depend partly on genetic variation. We hypothesized that candidate genetic polymorphisms are associated with fall risk in older… read more here.
Keywords: fall risk; allele carriers; variant allele; risk ... See more keywords
Pharmacogenetic distinction of the Croatian population from the European average
Sign Up to like & getrecommendations! Published in 2022 at "Croatian Medical Journal"
DOI: 10.3325/cmj.2022.63.117
Abstract: Aim To compare the Croatian and European population in terms of allele frequencies of clinically relevant polymorphisms in drug absorption, distribution, metabolism, and excretion (ADME) genes. Methods In 429 Croatian participants, we genotyped 27 loci… read more here.
Keywords: european population; allele frequencies; croatian population; variant allele ... See more keywords