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From Barbershops to Procedure Rooms, Charles R. Rogers Meets Black Men Where They Are. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-11-01 Jonathan D Grinstein
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Can Precision Pregnancy Save More Mothers? Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-11-01 Malorye Branca
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First Complete Sequence of Human Y Chromosome Assembled. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-11-01
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Frequency of Epidermal Growth Factor Receptor Gene Variant in Roma Population. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-11-01 Soňa Mačeková,Matúš Mathia,Dana Dojčáková
Aims: The pathogenic variant, p.GLY428Asp (c.1283G-A), in the epidermal growth factor receptor (EGFR) gene causes neonatal inflammatory skin and bowel disease 2, a disorder that is lethal during infancy due to skin infections and sepsis. This variant seems to be restricted to people of Roma origin with the majority of patients thus far reported being from Slovakia or the Czech Republic. The aim of
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F-Box and Leucine-Rich Repeat Protein 7 Is a Prognostic Biomarker and Is Correlated with the Immunosuppressive Microenvironment in Colorectal Cancer. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-10-20 Shuai Wang,Xunping Zhao,Shuyuan Zhu,Jiali Xu,Tao Luo
Background: Colorectal cancer (CRC) is a common malignancy of the digestive system, but its specific mechanisms of occurrence and development remain incompletely understood. F-Box and leucine-rich repeat protein 7 (FBXL7) is a subunit of the Skp-cullin-F-box ubiquitin ligase, involved in cell cycle regulation, endothelial cell damage, and inflammatory immunological responses. However, the role of FBXL7
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Investigating the Association of MTHFR C677T Gene Polymorphism with Recurrent Spontaneous Abortion Among Azerbaijani Women from Northwest Iran. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-10-19 Amin Moqadami,Abedeh Rezaei,Alireza Ahmadi,Parastoo Badamchizadeh,Zahra Karimi,Faezeh Molaei,Mohammad Khalaj-Kondori
Background: Recurrent spontaneous abortion (RSA), defined as two or more succeeding abortions during 20 weeks of gestation, affects 3-5% of pregnancies. Several studies have found that most women with RSA had at least one (and sometimes two copies) of the methylenetetrahydrofolate reductase (MTHFR) C677T variant. Materials and Methods: The study involved 118 women who had two or more spontaneous abortions
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The Merits and Challenges of Genetic Testing. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-10-17 Kaley Katz,Sharon F Terry
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Correction to: Preanalytic and Analytic Quality System Considerations in Noncoding RNA Biomarker Development for Clinical Diagnostics, by William S. Schleif, et al. Genet Test Mol Biomarkers 2023; (vol. 29, no. 5; 172-182); doi: 10.1089/gtmb.2022.0086. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-10-16
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Prevalence of p.G87V and p.Gln298=Variations in LIPA Gene Within Middle Eastern Population Living Around Los Angeles. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-10-01 Jayden Jackson,Justin Farajzadeh,Robert Turner,Kevin Yukutake,Eric Baghdasaryan,Emily St Denis,Tigran Barseghyan,Pamela Herrera,Sajo Begaj,Marvin Pietruszka,Yadira Valles-Ayoub
Background: The LIPA gene encodes for lysosomal acid lipase (LAL), which catalyzes the hydrolysis of cholesterol esters and triglycerides. Variations in the LIPA gene impair LAL activity, predisposing patients to a rare metabolic disorder called LAL deficiency (LAL-D). The lack of functioning LAL promotes lipid accumulation and subsequent dyslipidemia, which can increase the likelihood of complications
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Associations Between Osteopontin Variants and Systemic Lupus Erythematosus: A Meta-Analysis. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-09-11 Young Ho Lee,Gwan Gyu Song
Objective: Osteopontin (OPN) increases T-cell proliferation, interferon production, and CD40 ligand expression, which leads to B-cell proliferation and antibody production. This study was designed to determine whether OPN variants are associated with susceptibility to systemic lupus erythematosus [SLE]. Methods: We searched the Medline, Embase, and KoreaMed databases for available articles. We performed
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Two Novel Frameshift Mutations in the GLI3 Gene Underlie Non-Syndromic Polydactyly in Chinese Families. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-09-01 Xiaoyan Guo,Tengfei Shi,Mingrui Lin,Boling Liu,Yuancheng Pan
Objective: Polydactyly is characterized by multiple distinct heterogeneous phenotypes, the etiologies of which involve several genes. This study aimed to explore the genetic defects and further clarify the molecular mechanism of polydactyly in several Chinese families. Methods: Three families with diverse phenotypes of non-syndromic polydactyly were analyzed: two were cases of familial disease, whereas
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Allergic Rhinitis and Cancer Risk: A Two-Sample Mendelian Randomization Study. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-09-01 Fang Zhang,Jing Luo,Yang Tian,Bingjie Tang,Hailing Lv,Hai Liu,Jianhui Zhang
Background: There is increasing evidence that allergic rhinitis (AR) is associated with cancer. However, these results are inconsistent. Because of common risk factors, there may be reverse causality and confounding factors that affect our understanding of the relationship between AR and cancer. We aimed to explore the role of AR in cancer development using Mendelian randomization (MR) analysis. Materials
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Clinical Characteristics and Genotyping of Pediatric Adenovirus Pneumonia Disease and Coinfection in Southeast China. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-09-01 Dongyi Pan,Jingyang Zheng,Qionghua Chen,Li-E Zeng,Chunyan Lin,Yuting You,Jieru Lin
Introduction: Human adenovirus (HAdV) is a common pathogen that can cause acute respiratory infections (ARIs) in children. Adenovirus pneumonia is the most severe respiratory disease associated with HAdV. Objective: We aimed to investigate the clinical characteristics of children hospitalized with adenovirus pneumonia in Quanzhou, China, in 2019. We also sought to determine the viral genotype in these
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Could Aneurysm and Atherosclerosis-Associated MicroRNAs (miR 24-1-5p, miR 34a-5p, miR 126-5p, miR 143-5p, miR 145-5p) Also Be Associated with Coronary Artery Ectasia? Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-09-01 Zafer Yalım,Serap Tutgun Onrat,Ibrahim Etem Dural,Ersel Onrat
Background: Coronary artery ectasia (CAE), known for localized or diffuse excessive dilatation of the coronary artery, has an unknown etiology, but it has been reported that the underlying cause may be atherosclerosis and genetic changes that may affect the arterial lumen. MicroRNAs have been shown to have an effect in aneurysm diseases and are known to contribute to vascular development and atherosclerosis
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Association of Apolipoprotein A5 Gene Variants with Hyperlipidemic Acute Pancreatitis in Southeastern China. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-09-01 Yingyi Li,Hehui Cai,Yancheng Lin,Zhipeng Huang,Apei Zhou,Tianhao Huang,Yue-E Zeng,Meizhen Ye,Guiyuan Guo,Zicheng Huang
Background: Apolipoprotein A5 (APOA5) is involved in serum triglyceride (TG) regulation. Several studies have reported that the rs651821 locus in the APOA5 gene is associated with serum TG levels in the Chinese population. However, no research has been performed regarding the association between the variants of rs651821 and the risk of hyperlipidemic acute pancreatitis (HLAP). Methods: A case-control
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The Ratio of miR-122 to miR-20a (miR-122/miR-20a) Is a Useful Minimally Invasive Biomarker for Non-Alcoholic Fatty Liver Disease Detection. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-08-01 Yuji Hattori,Hiroya Yamada,Eiji Munetsuna,Ryosuke Fujii,Yoshitaka Ando,Mirai Yamazaki,Genki Mizuno,Yoshiki Tsuboi,Yuya Ishihara,Naohiro Ichino,Keiko Sugimoto,Keisuke Osakabe,Hiroaki Ishikawa,Koji Ohashi,Koji Suzuki
Background: The increasing prevalence of non-alcoholic fatty liver disease (NAFLD) has become a global health problem. NAFLD has few initial symptoms and may be difficult to detect early, so there is need for a minimally invasive early detection marker. We hypothesized that miR-122 and miR-20a levels combined, as the miR-122/miR-20a ratio might detect NAFLD more sensitively. Methods: This study involved
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Circulating Plasma miR-122 and miR-583 Levels Are Involved in Chronic Hepatitis B Virus Pathogenesis and Serve As Novel Diagnostic Biomarkers. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-08-01 Fedra Mokhtari,Hami Kaboosi,Seyed Reza Mohebbi,Hamid Asadzadeh Aghdaei,Mohammad Reza Zali
Background: MicroRNAs regulate many biological processes and are involved in the pathogenesis of many diseases including chronic hepatitis B (CHB). Moreover, besides investigation of their roles in hepatitis B virus (HBV) infection, a noninvasive, sensitive, and specific biomarker is essential in the diagnosis of liver diseases. This study was designed to evaluate the role of miR-122, miR-583, and
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LINC00891 Attenuates the Proliferation and Metastasis of Osteosarcoma Cells via miR-27a-3p/TET1 Axis. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-08-01 Shufang Zhang,Rongchun Chen
Objective: There is currently no adequate treatment for osteosarcoma, a bone malignancy that poses a serious threat to adolescents and children. The dysregulation of long noncoding RNAs is associated with many cancers, including osteosarcoma. LINC00891 expression is aberrant in endometrial cancer, lung cancer, and thyroid cancer, and likely regulate the malignant behavior of cancer. However, the potential
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A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-08-01 Chao Dai,Weiming Ren,Yao Wei,Chunbao Xie,Suyang Duan,Qi Li,Lingxi Jiang,Yi Shi
Background: Retinitis pigmentosa (RP) is a complex inherited and progressive degenerative retinal disease. The eyes shut homolog (EYS) is frequently associated with RP is surprisingly high. Exploring the function of EYS is quite difficult due to the unique gene size and species specificity. Gene therapy may provide a breakthrough to treat this disease. Therefore, exploring and clarifying pathogenic
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The Application of Artificial Intelligence in the Diagnosis of Cancer and Rare Genetic Diseases. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-07-20 Danielle Donadio,Sharon F Terry
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Evaluating the Clinical Application of Automatic Chromosome Harvesting for Prenatal Karyotype Analysis. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-07-01 Yunmeng Wang,Yifan Feng,Chanchan Ma,Jing Zhao,Shiying Sun
Objective: The clinical value of an automatic chromosome harvester was evaluated, which included a comparison between the manual and automatic harvesting for the isolation of amniotic fluid cell chromosomes. Methods: Amniotic fluid samples from 96 high-risk gravida cases identified at 17-25 weeks treated at the Prenatal Diagnostic and Reproductive Center from June to July 2022 were collected. These
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Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-07-01 Priyanka Gupta,Vasudha Sambyal,Kamlesh Guleria,Manjit Singh Uppal,Meena Sudan
Background: DNA repair genes are among the low-penetrance genes implicated in breast cancer. However variants of DNA repair genes may alter their protein function thus leading to carcinogenesis. Breast cancer is the most common cancer among women in India. The aim of the present study was to identify association, if any, of single nucleotide polymorphisms (SNP's) in four genes involved in DNA repair
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Otitis Media in Children with Down Syndrome Is Associated with Shifts in the Nasopharyngeal and Middle Ear Microbiotas. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-07-01 Christina L Elling,Salina H Goff,Scott D Hirsch,Kaitlyn Tholen,Jennifer M Kofonow,Danielle Curtis,Charles E Robertson,Jeremy D Prager,Patricia J Yoon,Todd M Wine,Kenny H Chan,Melissa A Scholes,Norman R Friedman,Daniel N Frank,Brian W Herrmann,Regie Lyn P Santos-Cortez
Background: Otitis media (OM) is defined as middle ear (ME) inflammation that is usually due to infection. Globally, OM is a leading cause of hearing loss and is the most frequently diagnosed disease in young children. For OM, pediatric patients with Down syndrome (DS) demonstrate higher incidence rates, greater severity, and poorer outcomes. However, to date, no studies have investigated the bacterial
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Impact of PIWIL1 Single Nucleotide Polymorphisms on Gastric Cancer Risk in a Chinese Population. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-06-01 Dan Hu,Laicheng Wang,Xin Chen,Yunchai Lin,Shunpeng Zhang,Zongcheng Fan,Feng Peng
Background: PIWI-like proteins contribute to the onset and progression of carcinogenesis. Whether single nucleotide polymorphisms (SNPs) in the PIWI-like 1 (PIWIL1) gene affect the morbidity and mortality of gastric cancer (GC) remains unclear. To investigate the efficacy of PIWIL1 SNPs genotype on the morbidity and mortality of GC and its interaction within PIWIL1 gene SNPs variation and between elevated
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Role of Genetic Polymorphism and Expression of Angiopoietin-2 in Patients with Primary Liver Cancer Among the Southeastern Chinese Hans Population. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-06-01 Bin Wang,Yunxiao Lv,Shenjian Ye,Jin Zhao,Xinling Pan
Background: Angiopoietin-2 (Ang2)-mediated angiogenesis plays a crucial role in the pathogenesis of vascular-rich cancers. However, the genetic polymorphism and expression level of Ang2 in patients with primary liver cancer remain unknown. Methods: This study included 234 primary liver cancer patients and 199 healthy controls. The expression levels of Ang2 in liver cancer tissues and plasma were determined
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Creating a Path for Gene and Cell Therapies to Be Accessible to Patients. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-06-01 Helen Albert
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The Applicability of Polygenic Risk Scores in Under-Represented Populations. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-06-01 Katie Riefski,Sharon F Terry
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Association of BRCA2 Gene Functional Polymorphisms with Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-05-18 Siyuan Guo,Zuo Zhou,Tingting Guo,Yi Xu,Xintao Yang,Yupei Wang,Renji Chen
Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a complex congenital disease affected by genetic and environmental factors however, the specific pathogenic alleles and regulatory mechanisms remain unclear in many cases. Here, we aimed to study the association between eight potentially functional single nucleotide polymorphisms (SNPs) of the BRCA2 and MGMT genes and NSCL/P
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Correction to: Identifying Mitochondrial Transcription Factor A As a Potential Biomarker for the Carcinogenesis and Prognosis of Prostate Cancer, by Yaqiong Tian, et al. Genet Test Mol Biomarkers 2023; (vol. 27, no. 1; 5-11); doi: 10.1089/gtmb.2022.0141. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-05-09
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Predictive Value of ABCC2 and UGT1A1 Polymorphisms on Irinotecan-Related Toxicities in Patients with Cancer. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-05-01 Zineb Aoullay,Andrew Smith,Meriem Slaoui,Ihssane El Bouchikhi,Hassan Ghazal,Najib Al Idrissi,Bouchra Meddah,Kara L Lynch,Yahia Cherrah,Alan H B Wu
Background: There is extensive interindividual variability in response and tolerance to anticancer drugs. This heterogeneity provides a major limitation to the "rational" use of cytotoxic drugs, and it becomes a major problem in oncology giving a narrow therapeutic window with a vital risk. Among these anticancer drugs, irinotecan can cause dose-limiting toxicities, commonly diarrhea and neutropenia
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Preanalytic and Analytic Quality System Considerations in Noncoding RNA Biomarker Development for Clinical Diagnostics. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-05-01 William S Schleif,Sara M Sarasua,Jane M DeLuca
A frequent topic of biomedical research is the potential clinical use of non-coding (nc) RNAs as quantitative biomarkers for a broad spectrum of health and disease. However, ncRNA analyses have not been pressed into widespread diagnostic use. Strong preclinical evidence suggests obstacles in the translation and reproducibility of this type of biomarker which may result from preanalytical and analytical
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Association Between the SLC2A2 Gene rs1499821 Polymorphism and Caries Susceptibility. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-05-01 Li Liu,Fei Ma,Qiulin Liu,Xueting Yu,Xiaojuan Zeng
Objectives: This study was designed to analyze the association between the SLC2A2 rs1499821 polymorphism and caries susceptibility in the Chinese Han, Zhuang, and Baikuyao populations. Materials and Methods: The present case-control study included 1067 12-year-old children: 481 with caries (142 Han, 166 Zhuang and 173 Baikuyao) and 586 who were caries-free (135 Han, 178 Zhuang and 273 Baikuyao). Questionnaires
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Elevated Expression of ADAM10 Induced by HPV E6 Influences the Prognosis of Cervical Cancer. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-05-01 Xuewang Guo,Yu Dou,Shuiqingqing Liu,Yue Du,Ruimeng Guo,Yingying Yue,Yu Xu,Xueying Liu,Yanying Xu
Objective: To explore the abnormal expression of ADAM10, its cause, and its clinical value in the prognosis of cervical lesions. Methods: The abnormal expression of ADAM10 was explored using the Gene Expression Profiling Interactive Analysis database, and the abnormal expression in cervical lesions was verified using immunohistochemistry (IHC). The transfection effect of shRNA was evaluated using real-time
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Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-05-01 Ameera Balobaid,Faiqa Imtiaz,Khushnooda Ramzan,Sibtain Afzal,Moeenaldeen AlSayed
Background: Deleterious mutations in the human gene phenylalanine hydroxylase (PAH) encoding the phenylalanine hydroxylase enzyme give rise to classic phenylketonuria and hyperphenylalaninemia. Our study was designed to characterize the spectrum of variants in the PAH gene in Saudi patients. Materials and Methods: We screened a cohort of 72 Saudi patients with clinical and biochemical diagnoses of
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A Mighty Mouth for Data Sharing. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-04-01 Sharon F Terry
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The Not-So-Melting Pot: Workforce and Patient Research Inequity Caps Genomic Medicine Progress. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-04-01 Jonathan D Grinstein
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Diagnostic Biomarkers and Therapeutic Targets of Alternative Lengthening of Telomeres-Positive Cancers. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-04-01 Manrose Singh,Danny MacKenzie,Sanket Desai,Noelle Batista,Dong Zhang
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Meta-Analysis of the Association Between 5-Hydroxytryptamine Transporter Gene-Linked Polymorphic Region and Functional Dyspepsia and its Subtypes. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-03-01 Zhiming Wang,Liping Wu,Peiwen Dong,Qiong Wang,Xiaobin Sun,Lei Liu,Yuanbiao Guo,Yueshan Sun,Tao Shu
Background: Association studies of variations in the 5-hydroxytryptamine (5-HT, serotonin) transporter gene-linked polymorphic region (5-HTTLPR) and functional dyspepsia (FD) have yielded contradictory results. Hence, we performed a meta-analysis to clarify inconsistencies between the 5-HTTLPR polymorphism with FD and it subtypes. Methods: We performed a literature search in PubMed, Embase, Web of
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A Novel Heterozygous Missense Variant in Parathyroid Hormone 1 is Related to the Occurrence of Developmental Dysplasia of the Hip. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-03-01 Dan Yang,Zaiwei Zhou,Shiqi Wang,Hao Ying,Sun Wang,Qichao Ma,Jing Wu,Qin Jiao,Lingyan Fan,Mengjie Chen,Yichen Wang,Lihua Zhao
Introduction: Developmental dysplasia of the hip (DDH) is one of the most common diseases in the pediatric orthopedics, with an incidence of 1-5%. Genetic factors are the bases of the pathogenesis of DDH, but the pathogenic variants and pathogenesis of DDH are still unknown. There are no key accurate diagnostic or prognostic molecular markers for DDH. The purpose of our study was to screen for genetic
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Mutations in Classical Signaling Pathways and Their Functional Impact in Microsatellite Instability High Colorectal Cancer. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-03-01 Shanshan Shi,Yuxi Gong,Xiao Li,Ying Ding,Guoxin Song,Haiyan Liu,Zhihong Zhang
Aims: Colorectal carcinomas with microsatellite instability high (MSI-H) are a distinctive group among colorectal cancers (CRCs). This study investigated the mutations of genes in the common signaling pathways and their potential clinical implications in MSI-H CRC. Materials and Methods: Twenty-five MSI-H tumors were selected from 384 primary CRCs, and the related clinical and pathological information
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Longitudinal Associations Between TPO Gene Variants and Thyroid Peroxidase Antibody Seroconversion in a Population-Based Study: Tehran Thyroid Study. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-03-01 Amir Hossein Ghanooni,Azita Zadeh-Vakili,Boshra Rezvankhah,Somayeh Jafari Nodushan,Mahdi Akbarzadeh,Atieh Amouzegar,Maryam S Daneshpour,Davood Khalili,Yadollah Mehrabi,Seyed Alireza Ebadi,Fereidoun Azizi
Introduction: Autoimmune thyroid diseases (AITD) are usually accompanied by anti-thyroid antibodies which can serve as early predictive markers. This study was designed to investigate the relationship between thyroid peroxidase (TPO) gene variants and the presence of TPOAb and to evaluate the effect of environmental factors associated with seroconversion from TPOAb-negative to TPOAb-positive. Methods:
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Differential Expression of Caveolin-3, Suppression of Tumorigenicity 2, and Growth Differentiation Factor-15 Genes and Their Association with Acute Myocardial Infarction: A Cross-Sectional Study in a Multi-Specialty Hospital in Tamil Nadu. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-03-01 Priyanka Venugopal,Kannika Logu,Karthikeyan Balakrishnan,Usha Subbaih,Sriram Damal Kandadai,Melvin George
Background: Acute myocardial infarction (AMI) is one of the world's leading causes of cardiovascular death. Recent studies have reported the influence of the genes caveolin-3 (CAV3), suppression of tumorigenicity 2, and growth differentiating factor-15 in cardiovascular diseases, especially myocardial infarction, but their role and function remain unclear. Hence, this study was designed to evaluate
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Association of an ADRB3 Variant with Coronary Artery Disease Within the Chinese Han Population: Construction of a Predictive Nomogram Model. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-03-01 Jin-Yu Zhang,Qian Zhao,Xiao-Mei Li,Fen Liu,Qiang Zhao,Li Men,Qing-Jie Chen,Hui Zhai,Yi-Ning Yang
Objective: Coronary artery disease (CAD) is a the most common type of heart disease, and is associated with the highest mortality rate. The role of the β3-adrenergic receptor gene (ADRB3) in energy homeostasis and lipolysis suggests that it may be associated with obesity, insulin resistance, diabetes, and hypertension. Herein, we sought to examine the relationship between CAD and variants of the ADRB3
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Prognostic Value of Transglutaminase 2 in Patients with Solid Tumors: A Meta-analysis. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-02-20 Jie Gao,Shengjiang Wang,Haiyan Wan,Jinfeng Lan,Yong Yan,Dongmei Yin,Wenjing Zhou,Shouyong Hun,Qi He
Background: Transglutaminase 2 (TG2), a member of the transglutaminase family, also known as tissue transglutaminase, plays a fundamental role in cancer growth and progression. In this study, we aimed to comprehensively review the evidence of TG2 as a prognostic biomarker in solid tumors. Methods: PubMed, Embase, and Cochrane databases were searched for human studies with clearly described cancer types
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Inherited Cancer Knowledge Among Black Females with Breast Cancer Before and After Viewing a Web-Based Educational Video Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-01-31 Tuya Pal, Puja Shah, Anne Weidner, Ann Tezak, Lindsay Venton, Brenda Zuniga, Sonya Reid, Deborah Cragun
Purpose: Scalable solutions are needed to make pre-test genetic education about inherited cancer risk accessible across diverse and underserved populations. We evaluated an automated strategy to deliver genetic education through a web-based video among young Black females with breast cancer.
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Identifying Mitochondrial Transcription Factor A As a Potential Biomarker for the Carcinogenesis and Prognosis of Prostate Cancer Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-01-31 Yaqiong Tian, Zhijuan Fan, Shuang Liu, Yujing Wu, Shuye Liu
Aims: Mitochondrial functional transformation contributes to the carcinogenesis of the prostate by meeting the metabolic needs of cancer cells. Mitochondrial transcription factor A (TFAM) is a pivotal regulator that maintains homeostasis of mitochondrial function. However, its role in prostate carcinogenesis has not been well elucidated.
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Audiologic Measures in an Indigenous Community with A2ML1- and FUT2-Related Otitis Media Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-01-31 Regie Lyn P. Santos-Cortez, Kimberly Mae C. Ong, Angeli Carlos-Hiceta, Ma. Leah C. Tantoco, Talitha Karisse L. Yarza, Ma. Luz San Agustin, Melquiadesa Pedro, Teresa Luisa G. Cruz, Eva Maria Cutiongco-de la Paz, Generoso T. Abes, Erasmo Gonzalo d.V. Llanes, Abner L. Chan, Charlotte M. Chiong, Maria Rina T. Reyes-Quintos
Background: Many indigenous peoples are at elevated risk for otitis media, however there is limited information on hearing loss due to OM in these communities. An Indigenous Filipino community that has previously been described with an elevated prevalence of OM that is due to rare A2ML1 variants and a common FUT2 variant underwent additional phenological testing. In this study, we describe the audiologic
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Long Noncoding RNA IPW Is a Novel Diagnostic and Predictive Biomarker in Lung Adenocarcinoma Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-01-31 Zhiju Liu, Hua Jiang, Rongchang Zhao, Qiuying Quan, Xiaohong Huang
Background: Long non-coding RNAs (lncRNAs), as functional components of the human genome, are widely involved in cell proliferation, differentiation, apoptosis, migration and invasion by several types of cancer, including lung cancer. However, the role of lncRNA IPW in lung cancer has not been fully elucidated. The aim of the present study was to characterize the expression and clinical significance
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P-Element-Induced Wimpy Testis Proteins and P-Element-Induced Wimpy Testis-Interacting RNAs Expression in Ovarian Cancer Stem Cells. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-02-01 Eun Jung Sohn,Sae-Ock Oh
Background: P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are a type of noncoding RNA and are predominantly expressed in germline cells. piRNAs function as gene regulators and potential biomarkers for the development of a number of malignancies. The biological importance of piRNAs in ovarian cancer is still unknown. In this study, we investigated the expression of piRNAs in ovarian
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Asked & Answered: All of Us and What It Means to All of You. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-02-01 Damian Doherty
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The PSCA rs2294008 (C/T) Polymorphism Increases the Risk of Gastric and Bladder Cancer: A Meta-Analysis. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2023-02-01 Xiao-Feng Wang,Dong-Li Liu,Li Geng
Background: It has been reported that prostate stem cell antigen (PSCA) is overexpressed in certain cancer types and confers poor prognoses. The rs2294008 (C/T) polymorphism of PSCA is considered to be associated with risk for gastric, bladder, and colorectal cancers; however, these studies have produced inconsistent results, so we performed this meta-analysis to verify the association between the
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NUTF2 as a Prognostic Indicator and Potential Therapeutic Target in Head and Neck Squamous Cell Carcinoma Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-12-28 Peng Li, Xin Wen, Xiaoying Zhang, Fufang Wang, Dong Zhang, Hong Shang
Aim: To identify genes associated with the prognosis of head and neck squamous cell carcinoma (HNSC) and potential molecular targets for therapy.
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A Circulating MicroRNA-375 for the Detection of Liver Cancer: A Meta-Analysis Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-12-28 Xiangyu Kong, Zhen He, Zhaohua Ji, Ting Fu, Xiaojie Yuan, Haowei Zhou, Zhongjun Shao, Weilu Zhang
Background: Liver cancer is one of the most frequently diagnosed malignant tumors, with an extremely high incidence rate. Diagnosis of liver cancer is difficult with the existing methods and improved biomarkers are urgently needed. A number of studies have established a link between abnormal miR-375 expression and liver cancer. Therefore, we conducted a systematic analysis to appraise whether miR-375
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Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-12-28 Wenyan Zhang, Feng Jin, Ruolan Guo, Zhan Qi, Yaling Wang, Xueling Li, Yali Wu, Wei Li, Xuyun Hu, Chanjuan Hao
Background: Conventional newborn screening (NBS) is usually based on biochemical methods to predict the risk of inborn errors of metabolism. Recent studies have applied next-generation sequencing in NBS and revealed much more information, including carrier status. Whether these carriers of variants differ from other individuals was not fully determined.
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Effects of p450 Polymorphisms on the Clinical Outcomes of Gefitinib Treatment in Patients with Epidermal Growth Factor Receptor Mutation-Positive Non-Small Cell Lung Cancer Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-12-28 Ruizhe Fan, Jiuzhou Zhao, Bo Wang, Xiang Li, Yuping Guan, Pengfei Ren, Rui Sun, Liya Zhang, Yongjun Guo
Aims: In this study, we determined whether different genotypes of drug-metabolizing enzymes are associated with the therapeutic effects of gefitinib in non-small cell lung cancer (NSCLC).
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Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-12-28 Xiangyu Zhao, Chunhai Gao, Lin Li, Liangqian Jiang, Yuda Wei, Fengyuan Che, Qiji Liu
Purpose: To explore the genetic defects in two Chinese families with X-linked Norrie disease (ND).
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Gaps in Care for the Adolescent and Young Adult Cancer Survivor in the United States. Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-12-01 Angelea Kuipers
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PARP1 Is a Prognostic Marker and Targets NFATc2 to Promote Carcinogenesis in Melanoma Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-11-23 Kuanhou Mou, Yan Zhou, Xin Mu, Jian Zhang, Lijuan Wang, Rui Ge
Background: Melanoma is the most lethal skin tumor. PARP1 plays an oncogenic role in tumors, but the mechanism of PARP1 in melanoma remains unclear. Explicating the functional mechanism of PARP1 might highlight new targets for improving the survival rate of melanoma patients.
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Identifying Diagnostic and Prognostic Differentially Expressed Genes of Gastric Cancer Based on Bioinformatics Analyses of RNA-seq Data Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-11-23 Minjuan Wang, Xing Jiang, Shiqi Xu, Yun Deng, Tian Cao, Yao Cheng, Wen-Han Zhang, Lan Zhang, Jiankun Hu
Background: The abnormal expression of genes in serum may be associated with early diagnosis of patients with malignant tumors. This study was designed to screen for significantly differentially expressed genes (DEGs) that may be associated with gastric cancer using bioinformatic methods.
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Identification of Key Pathways and Genes Downstream of Insulin-Like Growth Factor 1 in Thyroid Carcinoma Genet. Test. Mol. Biomark. (IF 1.4) Pub Date : 2022-11-23 Jin Wang, Lirong Wu, Wei Lu, Hui Zhang, Yefeng Wu
Introduction: Thyroid carcinoma (THCA) is the most common endocrine tumor worldwide. Insulin-like growth factor 1 (IGF1) is a polypeptide hormone with a high degree of structural similarity to human proinsulin.