Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2004
Abstract: Gnathodiaphyseal dysplasia (GDD) is an ultrarare autosomal dominant bone dysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, frequent bone fractures at the young age, bowing of tubular bones, and diaphyseal sclerosis of long… read more here.
Keywords: dysplasia novel; novel genetic; genetic variant; dysplasia ... See more keywords
Environmental Aldehyde Sources and the Health Implications of Exposure.
Sign Up to like & getrecommendations! Published in 2019 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-13-6260-6_2
Abstract: Aldehydes, which are present within the air as well as food and beverage sources, are highly reactive molecules that can be cytotoxic, mutagenic, and carcinogenic. To prevent harm from reactive aldehyde exposure, the enzyme aldehyde… read more here.
Keywords: medicine; environmental aldehyde; genetic variant; health ... See more keywords
Genetic variant strains of Leishmania (Viannia) braziliensis exhibit distinct biological behaviors
Sign Up to like & getrecommendations! Published in 2018 at "Parasitology Research"
DOI: 10.1007/s00436-018-6014-4
Abstract: A variety of clinical forms of American cutaneous leishmaniasis (ACL) caused by Leishmania braziliensis, as well as differing immune responses of patients, have been reported for an ACL focus in the state of Minas Gerais,… read more here.
Keywords: strains leishmania; variant strains; leishmania viannia; braziliensis ... See more keywords
Association between vitamin D receptor (FokI) genetic variant rs2228570 and iron profile in hemodialysis patients
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Biology Reports"
DOI: 10.1007/s11033-019-05161-3
Abstract: Iron deficiency is a common etiology of anemia that causes suboptimal response to erythropoietin therapy in hemodialysis (HD) patients. This study investigated the association between vitamin D receptor (VDR) genetic variant (FokI) rs2228570 with iron… read more here.
Keywords: rs2228570; association vitamin; genetic variant; hemodialysis patients ... See more keywords
A new genetic variant causing auditory neuropathy: A CARE case report.
Sign Up to like & getrecommendations! Published in 2021 at "European annals of otorhinolaryngology, head and neck diseases"
DOI: 10.1016/j.anorl.2021.08.007
Abstract: INTRODUCTION Auditory neuropathy refers to impaired synchronization of the auditory signal along the cochlear nerve. The present study, following CARE case report guidelines, describes a case of auditory neuropathy secondary to a genetic variant not… read more here.
Keywords: auditory neuropathy; care case; auditory; genetic variant ... See more keywords
Cannabinoids and psychotic symptoms: A potential role for a genetic variant in the P2X purinoceptor 7 (P2RX7) gene
Sign Up to like & getrecommendations! Published in 2020 at "Brain, Behavior, and Immunity"
DOI: 10.1016/j.bbi.2020.04.051
Abstract: To investigate the biological mechanisms underlying the higher risk for psychosis in those that use cannabis, we conducted a genome-wide environment-interaction study (GWEIS). In a sample of individuals without a psychiatric disorder (N=1262), we analyzed… read more here.
Keywords: cannabis; cannabis use; use; p2rx7 gene ... See more keywords
A genetic variant conferred high expression of CAV2 promotes pancreatic cancer progression and associates with poor prognosis.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of cancer"
DOI: 10.1016/j.ejca.2021.04.008
Abstract: AIM This study aimed to identify the functional genes and genetic variants associated with the prognosis of pancreatic ductal adenocarcinoma (PDAC) and reveal the mechanism underlying their prognostic roles. METHODS First, we implement a two-stage… read more here.
Keywords: prognosis; genetic variant; expression; progression ... See more keywords
Characterization of the new genetic variant in the caprine lipoprotein lipase gene
Sign Up to like & getrecommendations! Published in 2020 at "Small Ruminant Research"
DOI: 10.1016/j.smallrumres.2019.10.012
Abstract: Abstract Lipoprotein Lipase (LPL), a key enzyme in lipid metabolism, catalyses the hydrolysis of triglycerides (TG) from TG-rich lipoproteins, and serves a bridging function that enhances the cellular uptake of lipoproteins. By sequencing, we identified… read more here.
Keywords: new genetic; variant caprine; lipase; genetic variant ... See more keywords
IFNL4 genetic variant can predispose to COVID-19
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DOI: 10.1038/s41598-021-00747-z
Abstract: Interferon lambda 4 (IFNλ4) has shown antiviral activity against RNA viruses, including some coronaviruses. Besides, genetic variants of IFNL4 can be predictive of the clearance of RNA viruses. However, little is known about the effect… read more here.
Keywords: predispose covid; rna viruses; genetic variants; ifnl4 genetic ... See more keywords
Genetic variant of endothelial protein C receptor genes and its serum level in B thalassemic children
Sign Up to like & getrecommendations! Published in 2022 at "Expert Review of Hematology"
DOI: 10.1080/17474086.2023.2156337
Abstract: ABSTRACT Background Due to their chronic hypercoagulable status, thalassemic individuals are at an elevated risk of developing thromboembolic sequence consequences. The goal of the current study is to assesses the EPCR gene polymorphism and soluble… read more here.
Keywords: genetic variant; level; thalassemic children; epcr gene ... See more keywords
Genetic variant in DICER gene is associated with prognosis of hepatocellular carcinoma in a Chinese cohort
Sign Up to like & getrecommendations! Published in 2017 at "Hepatology Research"
DOI: 10.1111/hepr.12824
Abstract: MicroRNAs (miRNAs) function as gene regulators and play crucial roles in the pathogenesis and prognosis of hepatocellular carcinoma (HCC). Genetic variants in miRNA processing genes may affect miRNA expression and contribute to HCC risk and… read more here.
Keywords: hepatocellular carcinoma; prognosis; prognosis hepatocellular; genetic variant ... See more keywords