Discriminating Interpatient Variabilities of RAS Gene Variants for Precision Detection of Thyroid Cancer
Sign Up to like & getrecommendations! Published in 2024 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2024.11919
Abstract: Key Points Question Is discrimination of interpatient variabilities of RAS gene variants associated with improved accuracy in malignancy diagnosis among thyroid nodules? Findings This diagnostic study of 620 patients, including 438 surgically resected thyroid tumor… read more here.
Keywords: detection; cancer; gene variants; ras gene ... See more keywords
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
Sign Up to like & getrecommendations! 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
Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.70103
Abstract: Fabry disease (FD) is a lysosomal storage disease due to genetic variants in the GLA gene located on the X chromosome. Males are hemizygous, while many females are genetic mosaics due to the random inactivation… read more here.
Keywords: disease; gene variants; score; gla gene ... See more keywords
The effect of growth hormone treatment in children with novel BPTF gene variants: A report of two cases and literature review
Sign Up to like & getrecommendations! 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
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage
Sign Up to like & getrecommendations! 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
Association of recently identified type 2 diabetes gene variants with Gestational Diabetes in Asian Indian population
Sign Up to like & getrecommendations! 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
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency
Sign Up to like & getrecommendations! 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
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-025-01951-6
Abstract: Bone marrow failure (BMF) in idiopathic aplastic anemia (AA) and hypoplastic myelodysplastic neoplasms (MDS-h) results from the destruction of hematopoietic progenitors by autoreactive T cells; however, the molecular events driving the pathogenesis of these disorders… read more here.
Keywords: marrow failure; gene variants; immune related; bone marrow ... See more keywords
Association of apolipoprotein A5 gene variants with metabolic syndrome in Tunisian population.
Sign Up to like & getrecommendations! 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
The pathogenicity classification of PAH gene variants in the Iranian population.
Sign Up to like & getrecommendations! 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
Population pharmacokinetics of valproic acid in epileptic children: Effects of clinical and genetic factors
Sign Up to like & getrecommendations! 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