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Journals Genetic Testing and Molecular ...

Genetic Testing and Molecular Biomarkers

https://read.qxmd.com/read/38757624/the-3-utr-polymorphisms-in-the-nlrp3-gene-associated-with-the-risk-of-copd-and-their-putative-effects-on-the-microrna-mechanism
#1
JOURNAL ARTICLE
Huiyan Wu, Chuting Huang, Yanling Zhang, Xin Yang, Liang Peng, Weipeng Li
Aims: Evaluating the association between a single nucleotide polymorphism in the 3' untranslated region (3'UTR) of the miRNA binding site of the NLRP3 gene and the occurrence and development of chronic obstructive pulmonary disease (COPD) and providing information to aid in the early detection and treatment of COPD. Materials and Methods: The regulatory single nuclear polymorphisms (SNPs) located in NLRP3 3'UTR were searched by using the dbSNP database and miRNA binding site prediction database. Meanwhile, samples from COPD patients and healthy controls in the same period were used for verification...
May 17, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38722048/aberrant-super-enhancer-landscape-in-enzalutamide-resistant-prostate-cancer-cells
#2
JOURNAL ARTICLE
Chao Cai, Qinwei Liu, Haoran Shan, Chuanfan Zhong, Guidong Chen, Zhouda Cai, Yu Zheng, Jianming Lu, Jiaojiao Tang, Zhuoyuan Lin
Background: Castration-resistant prostate cancer (CRPC), which has developed resistance to next-generation antiandrogens, such as enzalutamide (Enz), is a lethal disease. Furthermore, transcriptional regulation by super enhancers (SEs) is crucial for the growth and spread of prostate cancer, as well as drug resistance. The functions of SEs, a significant class of noncoding DNA cis-regulatory elements, have been the subject of numerous recent studies in the field of cancer research. Materials and Methods: The goal of this research was to identify SEs associated with Enz resistance in C4-2B cells using chromatin immunoprecipitation sequencing and cleavage under targets and tagmentation (CUT&Tag)...
May 9, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38721948/novel-wfs1-variants-in-two-moroccan-families-with-wolfram-syndrome
#3
JOURNAL ARTICLE
Ahmed Bouhouche, Sara Sefiani, Hicham Charoute, Tibar Houyam, Naima Bouslam, Fatima-Zahra El Yousfi, Wadi Bnouhana, Ali Benomar, Fatima-Zahra Ouadghiri, Wafaa Regragui
Background: Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families presenting with WFS. Methods: The clinical features of five members of two WFS families were evaluated. Whole-exome sequencing was conducted to explore the underlying genetic cause in the affected patients. Results: Two homozygous variants in the WFS1 gene were identified, each in one of the two families studied: a missense c...
May 9, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38721746/genetic-polymorphism-of-interleukin-6-in-asymptomatic-and-icu-admitted-covid-19-patients-in-sulaymaniyah-province-kurdistan-region-of-iraq
#4
JOURNAL ARTICLE
Peshnyar M A Rashid, Gaza F Salih
Background: The global pandemic of Coronavirus Disease 2019 (COVID-19) has resulted in significant fatality rates. Clinical outcomes for affected individuals range from being asymptomatic to severe illnesses requiring intensive care unit (ICU) admission. Among the various factors contributing to the variation in clinical outcomes, host genetics play a prominent role. Interleukin-6 (IL6), a key player in immune responses, has been identified as having a crucial impact on viral infections, including the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)...
May 9, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38717090/-mthfr-677c-t-and-1298a-c-variants-in-mothers-of-infants-with-down-syndrome-from-western-mexico
#5
JOURNAL ARTICLE
Yaneris Maibeth Romero-Bolaño, Lucina Bobadilla-Morales, Alfredo Corona-Rivera, Idalid Cuero-Quezada, Jennifer Santana-Hernández, Christian Peña-Padilla, Alejandro Brukman-Jiménez, Mireya Orozco-Vela, Natalia Navia-Espinoza, Jorge Román Corona-Rivera
Background: Several studies in mothers of infants with Down syndrome (DS) (MoIDS) have suggested that the 677C>T and 1298A>C variants of the 5,10-methylentetrahydrofolate reductase ( MTHFR ) gene can increase the risk of having a child with DS. Aim: This study aimed to evaluate the MTHFR 677C>T and 1298A>C variants as potential maternal risk factors for DS. Materials and Methods: Using TaqMan allelic discrimination assay, we genotyped 95 MoIDS and 164 control mothers from western Mexico. Data were analyzed using logistic regression analysis...
May 8, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38708593/tp53-mutated-myelodysplastic-syndrome-a-diagnostic-approach-in-different-clinical-settings
#6
JOURNAL ARTICLE
Hatem Kaseb, Genevieve Crane, Jane Gibson
No abstract text is available yet for this article.
May 6, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38708584/association-of-matrix-metalloproteinase-2-mmp-2-and-mmp-9-promoter-variants-their-serum-levels-and-activities-with-aortic-valve-calcification-avc-in-a-population-from-western-iran
#7
JOURNAL ARTICLE
Reza Heidari Moghadam, Fatemeh Babajani, Afshin Karami, Daniel Elieh-Ali-Komi, Faeghe Hoseini, Nahid Salehi, Saeed Elahirad, Ehsan Mohammadi-Noori, Hossein Mohammadi, Amir Kiani
Background: Matrix metalloproteinase (MMP) enzyme gene polymorphisms MMP-2-1575G/A and MMP-9-1562C/T promoter polymorphism, their serum levels, and activity are associated with aortic valve calcification (AVC). Materials and Methods: The synergistic link between the risk of AVC and the alleles T and A of MMP-9 and MMP-2 was investigated, respectively. Ninety-two cases with AVC and 92 healthy individuals from the west of Iran were included, and MMP- 2-1575G/A and MMP-9-1562C/T promoter polymorphisms were detected using PCR-RFLP...
May 6, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38634621/ykl-40-knockdown-decreases-oxidative-stress-damage-in-ovarian-granulosa-cells
#8
JOURNAL ARTICLE
Tingting Tang, Jinyu Gao, Xiangyang Pan, Qianqian Tang, Huijuan Long, Zhaohua Liu
Background: Oxidative stress has been implicated in the pathogenesis of polycystic ovarian syndrome (PCOS). To develop novel antioxidant drugs, it is necessary to explore the key regulatory molecules involved in oxidative stress in PCOS. Plasma YKL-40 levels are elevated in patients with PCOS; however, its role remains unclear. Methods: The follicular fluids of 20 women with PCOS and 12 control subjects with normal ovarian function were collected, and YKL-40 in follicular fluids was measured by enzyme-linked immunosorbent assay...
April 18, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38634609/association-study-of-pleural-mesothelioma-and-oncogenic-simian-virus-40-in-the-crocidolite-contaminated-area-of-dayao-county-yunnan-province-southwest-china
#9
JOURNAL ARTICLE
Ru-Ai Liu, Bo-Yong Wang, Xin Chen, Yuan-Qian Pu, Jia-Ji Zi, Wen Mei, Ye-Pin Zhang, Lu Qiu, Wei Xiong
Background: In Dayao County, Chuxiong Yi Autonomous Prefecture, Yunnan Province, Southwest China, 5% of the surface is scattered with blue asbestos, which has a high incidence of pleural mesothelioma (PMe). Simian virus 40 (SV40) is a small circular double-stranded DNA polyomavirus that can cause malignant transformation of normal cells of various human and animal tissue types and promote tumor growth. In this study, we investigate whether oncogenic SV40 is associated with the occurrence of PMe in the crocidolite-contaminated area of Dayao County, Yunnan Province, Southwest China...
April 18, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38613467/the-phenotypic-spectrum-of-desanto-shinawi-syndrome-a-comparative-report-of-the-first-reported-case-in-turkey
#10
JOURNAL ARTICLE
Cisem Mail, Sinem Yalcintepe, Damla Eker, Hakan Gurkan
DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare genetic disorder caused by pathogenic variants in the WAC gene. This syndrome is characterized by a wide range of physical and neurological symptoms including dysmorphic features, developmental delay, intellectual disability, and behavioral abnormalities. DESSH was described by DeSanto in 2015, and since then, only a few dozen cases have been reported worldwide. Recent research has focused on identifying the underlying genetic cause of the syndrome as well as exploring potential treatments...
April 13, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38597641/-vegf-2578c-a-460t-c-polymorphisms-and-gastrointestinal-tract-cancer-risk-an-updated-meta-analysis
#11
JOURNAL ARTICLE
Deepanshi Mahajan, Vasudha Sambyal, Manjit Singh Uppal, Meena Sudan, Kamlesh Guleria
Functional polymorphisms in the vascular endothelial growth factor (VEGF) alter the susceptibility toward different gastrointestinal tract (GIT) cancers. In this study, we explored the association of VEGF -2578C/A and VEGF -460T/C polymorphisms with esophageal cancer (EC) risk. In total, 330 patients with EC and 330 controls for VEGF -2578C/A polymorphism and 316 patients with EC and 316 controls for VEGF -460T/C polymorphism were genotyped. AA genotype ( p = 0.01) and A allele ( p = 0.02) of VEGF -2578C/A and CC genotype ( p = 0...
April 10, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38533877/carrier-screening-and-diagnosis-for-spinal-muscular-atrophy-using-droplet-digital-pcr-versus-mlpa-analytical-validation-and-early-test-outcome
#12
JOURNAL ARTICLE
Dolat Singh Shekhawat, Siyaram Didel, Shilpi Gupta Dixit, Pratibha Singh, Kuldeep Singh
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular life-threatening disorder. Owing to high carrier frequency, population-wide SMA screening to quantify the copy number of SMN gene is recommended by American College of Medical Genetics and Genomics. An accurate, reliable, short runaround time and cost-effective method may be helpful in mass population screening for SMA. Methods: Multiplex ligation-dependent probe amplification (MLPA) is a gold standard to estimate the copy number variation (CNV) for SMN1 and SMN2 genes...
March 27, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38507672/association-between-hashimoto-s-thyroiditis-and-rheumatoid-arthritis-a-bidirectional-mendelian-randomization-study
#13
JOURNAL ARTICLE
Jialin Liang, Zhaopu Jing, Yuanqing Cai, Leifeng Lv, Guangyang Zhang, Kai Nan, Xiaoqian Dang
Background: We aim to investigate the possible causal association between Hashimoto's thyroiditis (HT) and rheumatoid arthritis (RA) using Mendelian randomization (MR) methods. Methods: A bidirectional MR analysis was conducted to evaluate the causal association between HT and RA. We obtained summary statistics data from two extensive genome-wide association studies (GWAS) comprising 15,654 cases of HT and 14,361 cases of RA. The primary effect estimate utilized in this study was the inverse-variance weighted (IVW) method...
March 20, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38501698/analysis-of-cerna-network-and-identification-of-potential-treatment-target-and-biomarkers-of-endothelial-cell-injury-in-sepsis
#14
JOURNAL ARTICLE
Yulin Li, Qinghui Fu, Junjun Fang, Zhipeng Xu, Chunhu Zhang, Longwei Tan, Xin Liao, Yao Wu
Background: Sepsis is a complex clinical syndrome caused by a dysregulated host immune response to infection. This study aimed to identify a competing endogenous RNA (ceRNA) network that can greatly contribute to understanding the pathophysiological process of sepsis and determining sepsis biomarkers. Methods: The GSE100159, GSE65682, GSE167363, and GSE94717 datasets were obtained from the Gene Expression Omnibus (GEO) database. Weighted gene coexpression network analysis was performed to find modules possibly involved in sepsis...
March 19, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38487920/mir-107-and-mir-126-and-risk-of-breast-cancer-a-case-control-study
#15
JOURNAL ARTICLE
Priyanka Gupta, Vasudha Sambyal, Jagmohan Singh Bali, Kamlesh Guleria, Manjit Singh Uppal, Meena Sudan
Background: Micro RNAs are new diagnostic markers and therapeutic targets in breast cancer research. miR-107 and miR-126 have been reported to be linked with the pathogenesis of breast cancer. The present study investigates the levels of expression of miR-107 and miR-126 in patients with breast cancer to find their correlation with the risk of breast cancer in Amritsar, Punjab, Northwest India. Material and Methods: In total, 200 subjects, 100 patients with breast cancer and 100 controls, were enrolled to screen the expression of miR-107 and miR-126 using quantitative reverse transcription polymerase chain reaction (RT-PCR) technique...
March 15, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38478803/association-of-timp2-418-g-c-and-mmp-gene-polymorphism-with-risk-of-urinary-cancers-systematic-review-and-meta-analysis
#16
JOURNAL ARTICLE
Pemula Gowtham, Koyeli Girigoswami, Anbazhagan Thirumalai, Karthick Harini, Pragya Pallavi, Agnishwar Girigoswami
Aim: The matrix metalloproteinases (MMPs) inhibit tissue inhibitors of metalloproteinases (TIMPs), playing a notable role in various biological processes, and mutations in TIMP2 genes impact a variety of urinary cancers. In this study, we analyze and evaluate the potential involvement of the TIMP2 418 G/C and MMP gene polymorphism in the etiology of urinary cancer. Methodology: For suitable case-control studies, a literature search was undertaken from various database sources such as PubMed, EMBASE, and Google Scholar...
March 13, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38478802/ferroptosis-related-genes-are-associated-with-radioresistance-and-immune-suppression-in-head-and-neck-cancer
#17
JOURNAL ARTICLE
Ping Huang, Xuejian Ning, Min Kang, RenSheng Wang
Background: Ferroptosis is associated with tumor development; however, its contribution to radioresistant head and neck cancer (HNC) remains unclear. In this study, we used bioinformatics analysis and in vitro testing to explore ferroptosis-related genes associated with HNCs radiosensitivity. Materials and Methods: GSE9714, GSE90761, and The Cancer Genome Atlas (TCGA) datasets were searched to identify ferroptosis-related differentially expressed genes between radioresistant and radiosensitive HNCs or radiation-treated and nonradiation-treated HNCs...
March 13, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38471098/association-of-tenascin-c-gene-polymorphisms-with-risk-of-acute-coronary-syndrome-in-south-indian-population-a-case-control-genetic-association-study
#18
JOURNAL ARTICLE
Sankar Abirami, Prashant Shankarrao Adole, Kolar Vishwanath Vinod
Background: The extracellular matrix (ECM) glycoprotein changes are associated with the pathogenesis and complications of atherosclerosis, leading to acute coronary syndrome (ACS). Tenascin-C (TNC), an ECM protein, has been implemented in the pathogenesis, diagnosis, and prognosis of patients with cardiovascular disease. Aim: The study aimed to compare the genetic variants of the TNC gene (rs13321, rs2104772, and rs12347433) between South Indians with ACS and healthy participants. Materials and Methods: This case-control study recruited 150 ACS patients as cases and 150 healthy participants as controls...
March 12, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38416669/-correction-to-the-correlation-between-clinical-phenotype-and-genotype-of-hereditary-spherocytosis-by-hao-shen-et-al-genet-test-mol-biomarkers-2024-vol-28-no-1-33-38-doi-10-1089-gtmb-2023-0307
#19
(no author information available yet)
No abstract text is available yet for this article.
February 28, 2024: Genetic Testing and Molecular Biomarkers
https://read.qxmd.com/read/38657123/the-association-between-the-5-hydroxytryptamine-receptor-2a-gene-variants-rs6311-and-rs6313-and-obstructive-sleep-apnea-in-the-iranian-kurdish-population
#20
JOURNAL ARTICLE
Mohammad Abdolsamadi, Sharareh Rasouli, Ali Alizadeh Severi, Mohammad Reza Khirehgesh, Fatemeh Safari, Nejat Mahdieh, Habibolah Khazaie, Bijan Soleymani, Bahman Akbari
Introduction: Sleep is one of the most significant parts of everyone's life. Most people sleep for about one-third of their lives. Sleep disorders negatively impact the quality of life. Obstructive sleep apnea (OSA) is a severe sleep disorder that significantly impacts the patient's life and their family members. This study aimed to investigate the relationship between rs6313 and rs6311 polymorphisms in the serotonin receptor type 2A gene and OSA in the Kurdish population. Materials and Methods: The study's population comprises 100 OSA sufferers and 100 healthy people...
April 2024: Genetic Testing and Molecular Biomarkers
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