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Genetic Testing and Molecular Biomarkers

Serap Tutgun Onrat, Ersel Onrat, Emine Ercan Onay, Zafer Yalım, Alaettin Avşar
AIMS: Most dilated cardiomyopathies are either an ischemic dilated cardiomyopathy (IsDC) or an idiopathic dilated cardiomyopathy (IdDC). The treatments for both IsDC and IdDC are of a similar nature (upwards of 90%). Coronary revascularization, however, is only feasible for IsDC. The purpose of this study was to determine if microRNAs (miRNAs) could be used as biomarkers to distinguish between IsDC and IdDC. MATERIALS AND METHODS: Patients were divided into two groups: IsDC and IdDC, with 25 patients in each group, and 10 healthy persons serving as a control group...
October 26, 2018: Genetic Testing and Molecular Biomarkers
Tai-Cheng Zhou, Lei Yang, Yong-Ying Liu, Yuan Qin, Yi-Ping Li, Liang Zhang, Ke Yang, Ying Yang
BACKGROUND: The uncoupling protein 2 (UCP2) gene plays an important role in the complications of type 2 diabetes (T2D). However, the association between variants in the UCP2 gene and diabetic retinopathy (DR) in Han Chinese T2D patients remains unclear. METHODS: Two single-nucleotide polymorphisms (SNPs) [rs659366 (-866G/A) and a 45-bp insertion/deletion (I/D) in the 3'-UTR] in the UCP2 gene were genotyped in a study cohort of 209 T2D patients with DR and 199 T2D patients without DR by direct DNA sequencing...
October 25, 2018: Genetic Testing and Molecular Biomarkers
Wesley M Stansberry, Marelize Swart, Elizabeth B Medeiros, Todd C Skaar, Victoria M Pratt
AIMS: To validate a laboratory-developed test for the nucleoside transporter, SLC28A3, which has been associated with an increased risk of anthracycline-induced cardiomyopathy. METHODS: We used Taqman® allele discrimination to test for two variants of the SLC28A3 gene: rs7853758 (c.1381C>T) and rs885004 (c.862-360C>T). RESULTS: During the validation process, we noted that several DNA samples obtained from the Coriell Cell Repository (Camden, NJ) were positive for both the c...
October 23, 2018: Genetic Testing and Molecular Biomarkers
Sharon F Terry
No abstract text is available yet for this article.
October 2018: Genetic Testing and Molecular Biomarkers
Rong Jing, Yunlei Liu, Peng Guo, Tong Ni, Xiang Gao, Rong Mei, Xijing He, Jianlin Zhang
OBJECTIVE: Lumbar disc herniation (LDH) is a common and frequent orthopedic disease with strong genetic determinants. The disruption of the intervertebral disc extracellular matrix has been found to play a key role in the development of LDH, suggesting that abnormal matrix metalloproteinases (MMPs) may promote the degradation of the disc matrix. MMP-9, an important member of the MMP family, is a good candidate for the LDH susceptibility gene. The present study aimed to investigate the association of common variants in the MMP-9 gene with the risk, severity, and clinical characteristic variables of LDH...
October 2018: Genetic Testing and Molecular Biomarkers
Sheng-Long Xia, Dao-Po Lin, Qian-Ru Lin, Liang Sun, Xiao-Qi Wang, Wei-Jun Hong, Zi-Jian Lin, Chong-Chen Du, Yi Jiang
BACKGROUND AND AIMS: The Fc gamma receptor IIa (FcγRIIa), encoded by FCGR2A gene, has been suggested to play a crucial role in immunity by linking immunoglobulin G antibody-mediated responses with cellular effector and regulatory functions. Polymorphisms in FCGR2A have been shown to affect FcγRIIa/antibody interactions and have been potentially implicated in several autoimmune and inflammatory conditions. This study was designed to analyze the association between ulcerative colitis (UC) and FCGR2A polymorphisms in the Chinese population...
October 2018: Genetic Testing and Molecular Biomarkers
Ruixiao Zhang, Cui Wang, Yanhua Lang, Yanxia Gao, Zeqing Chen, Jingru Lu, Xiangzhong Zhao, Leping Shao
AIM: To analyze the variants of the potential causative genes in five Chinese patients with primary distal renal tubular acidosis (dRTA) from five unrelated families, and to explore their possible genotype-phenotype correlations, so as to raise the awareness of the disease. METHODS: Variants were identified by next generation sequencing. Clinical features and biochemical findings at the first presentation, as well as at follow-up visits were also investigated. One hundred unrelated healthy subjects were selected to evaluate each of the novel mutations found in this study...
October 2018: Genetic Testing and Molecular Biomarkers
Huiyan Li, Yangshun Gu
BACKGROUND: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES. MATERIALS AND METHODS: DNA was extracted from the peripheral blood of 26 persons from two different Chinese BPES families (13 of which were affected), as well as 200 cataract patients to act as normal controls. FOXL2 gene mutations were detected using polymerase chain reaction (PCR) and DNA sequencing techniques...
October 2018: Genetic Testing and Molecular Biomarkers
Vaishnavi Ratheesh, Sangeetha Subramanian, Ponnudurai Samuel Gnana Prakash, Dhayanand John Victor
BACKGROUND: Periodontitis is a multifactorial disease characterized by inflammatory responses to increased levels of subgingival pathogens, resulting in connective tissue destruction and alveolar bone loss. The susceptibility of an individual is determined by the complex interplay of the host, genetic, and environmental factors. Vitamin D, a secosteroid hormone, interacts with its nuclear receptor vitamin D receptor (VDR) to regulate crucial biological processes, such as bone metabolism and immune function modulation...
October 2018: Genetic Testing and Molecular Biomarkers
Marzieh Izadifard, Hossein Pashaiefar, Marjan Yaghmaie, Maryam Montazeri, Maryam Sadraie, Majid Momeny, Mahdi Jalili, Mohammad Ahmadvand, Seyed Hamidollah Ghaffari, Saeed Mohammadi, Kamran Alimoghaddam, Ardeshir Ghavamzadeh
BACKGROUND: Recent evidence indicates that the PVT1, CCDC26, and CCAT1 long noncoding RNAs (lncRNAs) are involved in the leukemogenic process. This study quantified the expression levels of the PVT1, CCDC26, and CCAT1 lncRNAs in patients with acute myeloid leukemia (AML) and also correlated their expression levels with the clinicopathological features of the patients. MATERIALS AND METHODS: The expression levels of the PVT1, CCDC26, and CCAT1 lncRNAs were analyzed using quantitative reverse transcription-polymerase chain reaction of bone marrow specimens obtained from 86 AML patients, 48 AML-M3 patients, and 40 normal controls...
October 2018: Genetic Testing and Molecular Biomarkers
Kabir Sachdeva, Divyesh Upadhyay, Richard Discutido, Merlin Mary Varghese, Firas Albuz, Rawan Almekosh, Linda Bouhafs, Sadika Solkar, Martina Stevikova, Braulio Peramo
TYPE OF STUDY: Retrospective analysis of embryo aneuploidy in patients undergoing in vitro fertilization (IVF) cycles. AIM: To evaluate factors that might affect the incidence of embryo aneuploidy during IVF cycles. METHODS: Three hundred twelve IVF cases were included in the present study. Preimplantation genetic testing for aneuploidy (PGT-A) was performed for all the subjects involved. Subject stratification was done based on maternal age, gonadotropin drug dosage, and IVF outcomes data...
October 2018: Genetic Testing and Molecular Biomarkers
Muhammad Aman Khan, Aneela Hussain, Gulab Sher, Bibi Zubaida, Muhammad Naeem
BACKGROUND: Mucolipidosis III gamma (MLIIIγ) is a rare autosomal recessive disorder characterized by radiographic evidence of mild-to-moderate dysostosis multiplex, progressive joint stiffness and pain, scoliosis, and normal to mildly impaired cognitive development. Cardiac valve involvement and respiratory complications can be significant. MLIIIγ is caused by mutations in the GNPTG, which encodes the γ subunit of the enzyme N-acetylglucosamine-1-phosphotransferase. OBJECTIVE: Clinical and genetic study of seven individuals of a consanguineous Pakistani family affected with mucolipidosis phenotype who never pursued medical care...
September 2018: Genetic Testing and Molecular Biomarkers
Chunbao Rao, Jiahui Chen, Qi Peng, Qineng Mo, Xiansheng Xia, Xiaomei Lu
BACKGROUND: Polydactyly is one of the most common congenital limb abnormalities. Our objective was to identify the genetic causes of non-syndromic polydactyly in 78 Chinese children. MATERIALS AND METHODS: Genomic DNA was isolated from 78 independent nonsyndromic polydactyly patients, of whom 71 had preaxial polydactyly (PPD), six had postaxial polydactyly (PAP), and one showed combined PPD1 and PAP-A/B. The coding areas and exon/intron boundaries of the GLI3 and SHH genes and the genomic region of SHH ZRS were amplified by polymerase chain reaction and sequenced...
September 2018: Genetic Testing and Molecular Biomarkers
Adrianna Evans, Natasha Bonhomme, Andrea Goodman, Sharon F Terry
No abstract text is available yet for this article.
September 2018: Genetic Testing and Molecular Biomarkers
Yao Wang, Yang Liu, Zhongyi Li, Xiumin Yan, Chuican Huang, Xingguang Ye, Xiuhong Sun, Shuang Qin, Xingming Zhong, Chengli Zeng, Dandan Liu, Xiaoqian Zou, Yumei Liu, Jing Wu, Zihao Wen, Guang Yang, Chunxia Jing, Xiangcai Wei
BACKGROUND: The occurrence of cervical cancer is a complex process, for which human papillomavirus (HPV) infection is a risk factor, although not all women infected with HPV will develop the disease. Knockout of mammalian lung metastasis associated transcript 1 (MALAT1) is associated with increased risk for several cancer types, whereas the long non-coding RNA (lncRNA) THRIL is essential for induction of tumor necrosis factor-α expression, which plays important roles in HPV infection...
September 2018: Genetic Testing and Molecular Biomarkers
Yunxia Yu, Caixia Zhu, Shaolan Zhou, Shuhong Chi
AIM: The present study was designed to examine the relationship between gene polymorphisms of C1q, tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), T cell immunoglobulin mucin (Tim-1), and systemic lupus erythematosus (SLE). MATERIALS AND METHODS: A total of 245 SLE patients were selected from February 2012 to August 2016, along with 245 healthy donors as the control group. Genomic DNA was extracted from peripheral blood samples from all subjects followed by mutational analyses...
September 2018: Genetic Testing and Molecular Biomarkers
Ebru Derelli Tufekci, Erhan Ozdiler, Ayse Tuba Altug, Ozlem Sancak, Orhan Ozdiler, Hakki Tastan
BACKGROUND: Nonsyndromic cleft lip with/without cleft palate (nsCL ± P) is one of the most common birth defects of complex etiology, occurring in ∼1/700 live births worldwide. A series of epidemiological studies were conducted to investigate the association between a transforming growth factor alpha (TGFα) polymorphism and nsCL ± P risk. The aim of this study was to investigate the association between the TGFα/HinfI polymorphisms and nsCL ± P in Turkish patients. METHODS: One hundred fifty-five Turkish subjects were enrolled: 70 nsCL ± P patients and 85 unrelated control individuals...
September 2018: Genetic Testing and Molecular Biomarkers
Abdulrahman Alsultan, Ahmed M Al-Suliman, Aamer Aleem, Farjah H AlGahtani, Majid Alfadhel
BACKGROUND: Sickle cell disease (SCD) is a monogenic disease that has wide variety of phenotypes with both and environmental factors contributing to its severity. METHODS: We performed whole-exome sequencing (WES) in 22 Saudi SCD patients to identify variants that could explain differences in disease phenotypes. All variants, except those that were benign and likely benign, described in the ClinVar database, were considered in our analysis. Gene-based association testing using sequence kernel association optimal unified test (SKAT-O) with small sample adjustment was performed to evaluate the effect of multiple variants in genes on SCD phenotypes...
September 2018: Genetic Testing and Molecular Biomarkers
Manizhe Faghih, Mohammad Rostami-Nejad, Davar Amani, Amir Sadeghi, Mohamad Amin Pourhoseingholi, Andrea Masotti, Mohammad Reza Zali
AIMS: Th17 cells and their related cytokines play an important role in the pathogenesis of celiac disease (CD), and thioredoxin (Trx) is an extracellular TG2 activity regulator. This study evaluated Trx serum levels and the expression levels of IL17A, IL21, and Trx genes in biopsies of treated (gluten-free diet) and naïve (untreated) CD patients compared with healthy individuals. METHODS: Duodenal biopsies were collected from treated CD patients (n = 60), healthy controls (n = 60), and eight newly diagnosed celiac patients...
September 2018: Genetic Testing and Molecular Biomarkers
Feiteng Lu, Shuang Liu, Qingyun Hao, Lixia Liu, Jing Zhang, Xiaolong Chen, Wang Hu, Peng Huang
BACKGROUND: Several previous studies have assessed the contribution of polymorphisms in genes encoding the complement factors C2/C3/CFB/CFH with the risk of age-related macular degeneration (AMD), however the results have been inconsistent. We conducted a meta-analysis to systematically review the potential association between complement factor polymorphisms and AMD. METHODS: Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published prior to January 1, 2018...
September 2018: Genetic Testing and Molecular Biomarkers
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