Allelic variants of a potato HEAT SHOCK COGNATE 70 gene confer improved tuber yield under a wide range of environmental conditions
Sign Up to like & getrecommendations! Published in 2022 at "Food and Energy Security"
DOI: 10.1002/fes3.377
Abstract: Abstract Previously, we developed and applied a glasshouse screen for potato tuber yield under heat stress and identified a candidate gene (HSc70) for heat tolerance by genetic analysis of a diploid potato population. Specific allelic… read more here.
Keywords: tuber yield; wide range; allelic variants; heat ... See more keywords
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Human Genetics"
DOI: 10.1016/j.ajhg.2022.02.007
Abstract: Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-Gonzalez, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, Satoko Miyatake, Junpei Tanigawa, Takayoshi Koike, Mitsuhiro Kato, Yoshiko Murakami, Uzma Abdullah, Muhammad Akhtar Ali, Rein Fadoul,… read more here.
Keywords: monoallelic allelic; neurodevelopmental delay; cause neurodevelopmental; ncdn cause ... See more keywords
Functional characterization of 50 CYP2D6 allelic variants by assessing primaquine 5-hydroxylation.
Sign Up to like & getrecommendations! Published in 2018 at "Drug metabolism and pharmacokinetics"
DOI: 10.1016/j.dmpk.2018.08.004
Abstract: Cytochrome P450 2D6 (CYP2D6) is responsible for the metabolic activation of primaquine, an antimalarial drug. CYP2D6 is genetically polymorphic, and these polymorphisms are associated with interindividual variations observed in the therapeutic efficacy of primaquine. To… read more here.
Keywords: cyp2d6 allelic; cyp2d6; allelic variants; primaquine hydroxylation ... See more keywords
Analysis of CYP450 gene allelic variants can predict ifosfamide toxicity in Mexican paediatric patients
Sign Up to like & getrecommendations! Published in 2020 at "Biomarkers"
DOI: 10.1080/1354750x.2020.1754913
Abstract: Abstract Context: Ifosfamide (IFA) is an effective antineoplastic for solid tumours in children, although it is associated with high levels of systemic toxicity and causes death in some cases. Objective: The aim of this study… read more here.
Keywords: allelic variants; toxicity; gene allelic; analysis cyp450 ... See more keywords
Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Sign Up to like & getrecommendations! Published in 2023 at "Human molecular genetics"
DOI: 10.1093/hmg/ddad070
Abstract: Fertilization is a fundamental process of development, and the blocking mechanisms act at the zona pellucida (ZP) and plasma membrane of the egg to prevent any additional sperm from binding, permeating, and fusing after fertilization.… read more here.
Keywords: fertilization; astl cause; allelic variants; abnormal fertilization ... See more keywords
Genotyping and de novo discovery of allelic variants at the Brassicaceae self-incompatibility locus from short read sequencing data.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular biology and evolution"
DOI: 10.1093/molbev/msz258
Abstract: Plant self-incompatibility (SI) is a genetic system that prevents selfing and enforces outcrossing. Because of strong balancing selection, the genes encoding SI are predicted to maintain extraordinarily high levels of polymorphism, both in terms of… read more here.
Keywords: novo discovery; discovery allelic; genotyping novo; database ... See more keywords
Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular human reproduction"
DOI: 10.1093/molehr/gaac015
Abstract: Meiosis is pivotal to gametogenesis and fertility. Meiotic recombination is a mandatory process that ensures faithful chromosome segregation and generates genetic diversity in gametes. Non-obstructive azoospermia (NOA) caused by meiotic arrest is a common cause… read more here.
Keywords: meiosis; non obstructive; allelic variants; shoc1 ... See more keywords
Functional non-synonymous variants of ABCG2 and gout risk
Sign Up to like & getrecommendations! Published in 2017 at "Rheumatology"
DOI: 10.1093/rheumatology/kex295
Abstract: Objectives Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased urate excretion are major causes of hyperuricemia and gout. In… read more here.
Keywords: risk; variants abcg2; common rare; gout ... See more keywords
Bi-allelic variants in MDH2: expanding the clinical phenotype.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical genetics"
DOI: 10.1111/cge.14088
Abstract: Bi-allelic alterations in the MDH2 gene have recently been reported in three unrelated toddlers with early-onset severe encephalopathy. Here we describe a new case of a child carrying novel variants in MDH2. This child presented… read more here.
Keywords: mdh2 expanding; expanding clinical; clinical phenotype; variants mdh2 ... See more keywords
CYP2D6 Allelic Variants *34, *17-2, *17-3, and *53 and a Thr309Ala Mutant Display Altered Kinetics and NADPH Coupling in Metabolism of Bufuralol and Dextromethorphan and Altered Susceptibility to Inactivation by SCH 66712
Sign Up to like & getrecommendations! Published in 2018 at "Drug Metabolism and Disposition"
DOI: 10.1124/dmd.117.079871
Abstract: Metabolic phenotype can be affected by multiple factors, including allelic variation and interactions with inhibitors. Human CYP2D6 is responsible for approximately 20% of cytochrome P450–mediated drug metabolism but consists of more than 100 known variants;… read more here.
Keywords: cyp2d6 allelic; metabolism; inactivation sch; nadph coupling ... See more keywords
Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.887082
Abstract: Postaxial polydactyly is a common congenital malformation which involves complex genetic factors. This retrospective study analyzed the cytogenetic and molecular results of a Chinese fetus diagnosed with postaxial polydactyly of all four limbs. Fetal karyotyping… read more here.
Keywords: smoothened smo; polydactyly; allelic variants; case report ... See more keywords