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   Articles with "gene variants" as a keyword



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POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy

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recommendations! Published in 2019 at "Annals of Neurology"

DOI: 10.1002/ana.25620

Abstract: The Popeye domain containing 3 (POPDC3) gene encodes a membrane protein involved in cyclic adenosine monophosphate (cAMP) signaling. Besides gastric cancer, no disease association has been described. We describe a new muscular dystrophy associated with… read more here.

Keywords: popdc3 gene; gene variants; muscular dystrophy; variants associate ... See more keywords
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The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review

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recommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2066

Abstract: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is a rare neurodevelopmental disease caused by BPTF gene variants. To date, there are only 36 cases reported in the literature, and patients mainly presented… read more here.

Keywords: bptf gene; gene variants; growth hormone; effect growth ... See more keywords
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COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage

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recommendations! Published in 2022 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6113

Abstract: Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses. Fetal neonatal alloimmune thrombocytopenia is a major… read more here.

Keywords: gene variants; col4a1 col4a2; inherited platelet; col4a2 ... See more keywords
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Association of recently identified type 2 diabetes gene variants with Gestational Diabetes in Asian Indian population

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recommendations! Published in 2017 at "Molecular Genetics and Genomics"

DOI: 10.1007/s00438-017-1292-6

Abstract: Earlier studies have provided evidence that the gestational diabetes mellitus (GDM) and Type 2 diabetes mellitus (T2DM) share common genetic background. A recent genome wide association study (GWAS) showed a strong association of six novel… read more here.

Keywords: indian population; asian indian; gene variants; association ... See more keywords
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Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency

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recommendations! Published in 2018 at "Journal of Assisted Reproduction and Genetics"

DOI: 10.1007/s10815-018-1349-4

Abstract: PurposeTo investigate the potential genetic etiology of premature ovarian insufficiency (POI).MethodsWhole-exome sequencing (WES) was done on DNA samples from women diagnosed with POI. Mutations identified were analyzed by in silico tools and were annotated according… read more here.

Keywords: premature ovarian; exome sequencing; ovarian insufficiency; gene variants ... See more keywords
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Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population.

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recommendations! Published in 2017 at "Annales d'endocrinologie"

DOI: 10.1016/j.ando.2017.01.005

Abstract: AIM OF THE STUDY APOA5 has been linked to metabolic syndrome (MetS) or its traits in several populations. In North Africa, only the Moroccan population was investigated. Our aim is to assess the association between… read more here.

Keywords: tunisian population; gene variants; association; metabolic syndrome ... See more keywords
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The pathogenicity classification of PAH gene variants in the Iranian population.

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recommendations! Published in 2022 at "Computational biology and chemistry"

DOI: 10.1016/j.compbiolchem.2022.107665

Abstract: Till now not many studies have been conducted to classify PAH gene variants according to American College of Medical Genetics and Genomics (ACMG-AMP) guidelines. The aim of this study was to collect all PAH gene… read more here.

Keywords: iranian population; acmg amp; amp guidelines; pah gene ... See more keywords
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Population pharmacokinetics of valproic acid in epileptic children: Effects of clinical and genetic factors

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recommendations! Published in 2018 at "European Journal of Pharmaceutical Sciences"

DOI: 10.1016/j.ejps.2018.06.033

Abstract: &NA; Valproic acid (VPA) is a first‐line anti‐epileptic drug that is used in the treatment of generalized and partial seizures. Gene variants had been proved to influence the pharmacokinetics (PK) of VPA and contribute to… read more here.

Keywords: vpa; gene variants; pharmacokinetics valproic; valproic acid ... See more keywords
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Association of Native American ancestry and common variants in ACE, ADIPOR2, MTNR1B, GCK, TCF7L2 and FTO genes with glycemic traits in Colombian population.

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recommendations! Published in 2018 at "Gene"

DOI: 10.1016/j.gene.2018.07.066

Abstract: Insulin resistance and defects in other related glycemic traits are common findings in the context of Metabolic Syndrome. Although genetic factors are clearly implied in susceptibility, and some gene variants have been identified mainly in… read more here.

Keywords: insulin; variants ace; gene variants; glycemic traits ... See more keywords
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Effects of CYP2R1 gene variants on vitamin D levels and status: A systematic review and meta-analysis.

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recommendations! Published in 2018 at "Gene"

DOI: 10.1016/j.gene.2018.08.056

Abstract: BACKGROUND AND OBJECTIVE CYP2R1 is a key gene in the vitamin D metabolic pathway. It has been suggested that CYP2R1 gene variants in European populations are associated with concentrations of 25(OH)D, a biomarker of vitamin… read more here.

Keywords: gene; cyp2r1 gene; gene variants; meta analysis ... See more keywords
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GW29-e1539 Dab2 gene variants are associated with coronary artery disease risk in the Chinese Han population

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recommendations! Published in 2018 at "Journal of the American College of Cardiology"

DOI: 10.1016/j.jacc.2018.08.176

Abstract: Disabled-2 (Dab2) is a clathrin and cargo binding endocytic adaptor protein and cell biology studies revealed that Dab2 plays a role in cellular trafficking of a number of transmembrane receptors and signaling proteins. However, little… read more here.

Keywords: gw29 e1539; gene variants; dab2 gene; variants associated ... See more keywords