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Genetics Research International

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https://www.readbyqxmd.com/read/29670770/genetic-variants-associated-with-hyperandrogenemia-in-pcos-pathophysiology
#1
REVIEW
Roshan Dadachanji, Nuzhat Shaikh, Srabani Mukherjee
Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women...
2018: Genetics Research International
https://www.readbyqxmd.com/read/29379655/genetic-variants-in-csmd1-gene-are-associated-with-cognitive-performance-in-normal-elderly-population
#2
Vadim Stepanov, Andrey Marusin, Kseniya Vagaitseva, Anna Bocharova, Oksana Makeeva
Recently, genetic markers rs10503253 and rs2616984 in the CUB and Sushi multiple domains-1 (CSMD1) gene have been reported to be associated with schizophrenia and cognitive functions in genome-wide association studies. We examined the associations of the above SNPs with cognitive performance evaluated by the Montreal Cognitive Assessment (MoCA) tool in a cohort of the normal elderly from the Russian population. Significant association of rs2616984 genotypes with the MoCA scores was found using nonparametric analysis...
2017: Genetics Research International
https://www.readbyqxmd.com/read/29362677/frequency-of-c-35delg-mutation-in-gjb2-gene-connexin-26-in-syrian-patients-with-nonsyndromic-hearing-impairment
#3
Hazem Kaheel, Andreas Breß, Mohamed A Hassan, Aftab Ali Shah, Mutaz Amin, Yousuf H Y Bakhit, Marlies Kniper
Background: Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2 . The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5-5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profound sensorineural HI. Methods: We carried out PCR, restriction enzyme based screening, and sequencing of 132 Syrian patients diagnosed clinically with hereditary deafness for different GJB2 mutations...
2017: Genetics Research International
https://www.readbyqxmd.com/read/29250447/electronic-northern-analysis-of-genes-and-modeling-of-gene-networks-underlying-bovine-milk-fat-production
#4
Bhaskar Ganguly, Tanuj Kumar Ambwani, Sunil Kumar Rastogi
Milk fat is one of the most important economic traits in dairy animals. Yet, the biological machinery involved in milk fat synthesis remains poorly understood. In the present study, expression profiling of 45 genes involved in lipid biosynthesis and secretion was performed using a computational approach to identify those genes that are differentially expressed in mammary tissue. Transcript abundance was observed for genes associated with nine bioprocesses, namely, fatty acid import into cells, xenobiotic and cholesterol transport, acetate and fatty acid activation and intracellular transport, fatty acid synthesis and desaturation, triacylglycerol synthesis, sphingolipid synthesis, lipid droplet formation, ketone body utilization, and regulation of transcription in mammary, skin, and muscle tissue...
2017: Genetics Research International
https://www.readbyqxmd.com/read/28357140/the-noncell-autonomous-requirement-of-proboscipedia-for-growth-and-differentiation-of-the-distal-maxillary-palp-during-metamorphosis-of-drosophila-melanogaster
#5
Anthony Percival-Smith, Gabriel Ponce, Jacob J H Pelling
The Drosophila maxillary palpus that develops during metamorphosis is composed of two elements: the proximal maxillary socket and distal maxillary palp. The HOX protein, Proboscipedia (PB), was required for development of the proximal maxillary socket and distal maxillary palp. For growth and differentiation of the distal maxillary palp, PB was required in the cells of, or close to, the maxillary socket, as well as the cells of the distal maxillary palp. Therefore, PB is required in cells outside the distal maxillary palp for the expression, by some mechanism, of a growth factor or factors that promote the growth of the distal maxillary palp...
2017: Genetics Research International
https://www.readbyqxmd.com/read/28261502/does-i-t744c-p2y12-polymorphism-modulate-clopidogrel-response-among-moroccan-acute-coronary-syndromes-patients
#6
Hind Hassani Idrissi, Wiam Hmimech, Nada El Khorb, Hafid Akoudad, Rachida Habbal, Sellama Nadifi
Background. An interindividual variability in response to Clopidogrel has been widely described in patients with acute coronary syndromes (ACS). The contribution of genetics on modulating this response was widely discussed. The objective of our study was to investigate the potential effect of i-T744C P2Y12 polymorphism on Clopidogrel response in a sample of Moroccan ACS patients. We tried also to determine the frequency of this polymorphism among Moroccan ACS compared to healthy subjects. Methods and Results...
2017: Genetics Research International
https://www.readbyqxmd.com/read/27843649/procaine-induces-epigenetic-changes-in-hct116-colon-cancer-cells
#7
Hussein Sabit, Mariam B Samy, Osama A M Said, Mokhtar M El-Zawahri
Colon cancer is the third most commonly diagnosed cancer in the world, and it is the major cause of morbidity and mortality throughout the world. The present study aimed at treating colon cancer cell line (HCT116) with different chemotherapeutic drug/drug combinations (procaine, vorinostat "SAHA," sodium phenylbutyrate, erlotinib, and carboplatin). Two different final concentrations were applied: 3 μM and 5 μM. Trypan blue test was performed to assess the viability of the cell before and after being treated with the drugs...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27822388/screening-for-subtelomeric-rearrangements-in-thai-patients-with-intellectual-disabilities-using-fish-and-review-of-literature-on-subtelomeric-fish-in-15-591-cases-with-intellectual-disabilities
#8
Chariyawan Charalsawadi, Jariya Khayman, Verayuth Praphanphoj, Pornprot Limprasert
We utilized fluorescence in situ hybridization (FISH) to screen for subtelomeric rearrangements in 82 Thai patients with unexplained intellectual disability (ID) and detected subtelomeric rearrangements in 5 patients. Here, we reported on a patient with der(20)t(X;20)(p22.3;q13.3) and a patient with der(3)t(X;3)(p22.3;p26.3). These rearrangements have never been described elsewhere. We also reported on a patient with der(10)t(7;10)(p22.3;q26.3), of which the same rearrangement had been reported in one literature...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27340568/assessment-of-functional-est-ssr-markers-sugarcane-in-cross-species-transferability-genetic-diversity-among-poaceae-plants-and-bulk-segregation-analysis
#9
Shamshad Ul Haq, Pradeep Kumar, R K Singh, Kumar Sambhav Verma, Ritika Bhatt, Meenakshi Sharma, Sumita Kachhwaha, S L Kothari
Expressed sequence tags (ESTs) are important resource for gene discovery, gene expression and its regulation, molecular marker development, and comparative genomics. We procured 10000 ESTs and analyzed 267 EST-SSRs markers through computational approach. The average density was one SSR/10.45 kb or 6.4% frequency, wherein trinucleotide repeats (66.74%) were the most abundant followed by di- (26.10%), tetra- (4.67%), penta- (1.5%), and hexanucleotide (1.2%) repeats. Functional annotations were done and after-effect newly developed 63 EST-SSRs were used for cross transferability, genetic diversity, and bulk segregation analysis (BSA)...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27200191/leveraging-comparative-genomics-to-identify-and-functionally-characterize-genes-associated-with-sperm-phenotypes-in-python-bivittatus-burmese-python
#10
Kristopher J L Irizarry, Josep Rutllant
Comparative genomics approaches provide a means of leveraging functional genomics information from a highly annotated model organism's genome (such as the mouse genome) in order to make physiological inferences about the role of genes and proteins in a less characterized organism's genome (such as the Burmese python). We employed a comparative genomics approach to produce the functional annotation of Python bivittatus genes encoding proteins associated with sperm phenotypes. We identify 129 gene-phenotype relationships in the python which are implicated in 10 specific sperm phenotypes...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27190652/sod1-gene-35a-c-exon3-intron3-polymorphism-in-type-2-diabetes-mellitus-among-south-indian-population
#11
K Nithya, T Angeline, W Isabel, A J Asirvatham
Superoxide dismutase is an antioxidant enzyme that is involved in defence mechanisms against oxidative stress. Cu/Zn SOD is a variant that is located in exon3/intron3 boundary. The aim of the present study was to investigate whether the Cu/Zn SOD (+35A/C) gene polymorphism is associated with the susceptibility to type 2 diabetes mellitus among south Indian population. The study included patients with type 2 diabetes mellitus (n = 100) and healthy controls (n = 75). DNA was isolated from the blood and genotyping of Cu/Zn SOD gene polymorphism was done by polymerase chain reaction based restriction fragment length polymorphism method...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27144030/altered-body-weight-regulation-in-ck1%C3%AE%C2%B5-null-and-tau-mutant-mice-on-regular-chow-and-high-fat-diets
#12
Lili Zhou, Keith C Summa, Christopher Olker, Martha H Vitaterna, Fred W Turek
Disruption of circadian rhythms results in metabolic dysfunction. Casein kinase 1 epsilon (CK1ε) is a canonical circadian clock gene. Null and tau mutations in CK1ε show distinct effects on circadian period. To investigate the role of CK1ε in body weight regulation under both regular chow (RC) and high fat (HF) diet conditions, we examined body weight on both RC and HF diets in CK1ε (-/-) and CK1ε (tau/tau) mice on a standard 24 hr light-dark (LD) cycle. Given the abnormal entrainment of CK1ε (tau/tau) mice on a 24 hr LD cycle, a separate set of CK1ε (tau/tau) mice were tested under both diet conditions on a 20 hr LD cycle, which more closely matches their endogenous period length...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27069690/molecular-characterization-of-a-novel-germline-vhl-mutation-by-extensive-in-silico-analysis-in-an-indian-family-with-von-hippel-lindau-disease
#13
Gautham Arunachal, Divya Pachat, C George Priya Doss, Sumita Danda, Rekha Pai, Andrew Ebenazer
Von Hippel-Lindau [VHL] disease, an autosomal dominant hereditary cancer syndrome, is well known for its complex genotype-phenotype correlations. We looked for germline mutations in the VHL gene in an affected multiplex family with Type 1 VHL disease. Real-Time quantitative PCR for deletions and Sanger sequencing of coding regions along with flanking intronic regions were performed in two affected individuals and one related individual. Direct sequencing identified a novel heterozygous single nucleotide base substitution in both the affected members tested, segregating with VHL phenotype in this family...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27069689/serotonin-related-gene-polymorphisms-and-asymptomatic-neurocognitive-impairment-in-hiv-infected-alcohol-abusers
#14
Karina Villalba, Jessy G Dévieux, Rhonda Rosenberg, Jean Lud Cadet
HIV-infected individuals continue to experience neurocognitive deterioration despite virologically successful treatments. While the cause remains unclear, evidence suggests that HIV-associated neurocognitive disorders (HAND) may be associated with neurobehavioral dysfunction. Genetic variants have been explored to identify risk markers to determine neuropathogenesis of neurocognitive deterioration. Memory deficits and executive dysfunction are highly prevalent among HIV-infected adults. These conditions can affect their quality of life and HIV risk-taking behaviors...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27042357/unique-agg-interruption-in-the-cgg-repeats-of-the-fmr1-gene-exclusively-found-in-asians-linked-to-a-specific-snp-haplotype
#15
Pornprot Limprasert, Janpen Thanakitgosate, Kanoot Jaruthamsophon, Thanya Sripo
Fragile X syndrome (FXS) is the most common inherited intellectual disability. It is caused by the occurrence of more than 200 pure CGG repeats in the FMR1 gene. Normal individuals have 6-54 CGG repeats with two or more stabilizing AGG interruptions occurring once every 9- or 10-CGG-repeat blocks in various populations. However, the unique (CGG)6AGG pattern, designated as 6A, has been exclusively reported in Asians. To examine the genetic background of AGG interruptions in the CGG repeats of the FMR1 gene, we studied 8 SNPs near the CGG repeats in 176 unrelated Thai males with 19-56 CGG repeats...
2016: Genetics Research International
https://www.readbyqxmd.com/read/27019752/induced-pluripotent-stem-cell-as-a-new-source-for-cancer-immunotherapy
#16
REVIEW
Farzaneh Rami, Halimeh Mollainezhad, Mansoor Salehi
The immune system consists of cells, proteins, and other molecules that beside each other have a protective function for the host against foreign pathogens. One of the most essential features of the immune system is distinguishability between self- and non-self-cells. This function has an important role in limiting development and progression of cancer cells. In this case, the immune system can detect tumor cell as a foreign pathogen; so, it can be effective in elimination of tumors in their early phases of development...
2016: Genetics Research International
https://www.readbyqxmd.com/read/26885398/association-of-rbp4-genotype-with-phenotypic-reproductive-traits-of-sows
#17
A Marantidis, G P Laliotis, M Avdi
PCR-RFLP was applied to a commercial crossbred pig population in order to investigate the association between polymorphism (SNP) of Retinol-binding protein 4 (RBP4) gene and reproductive performance. 400 sows were genotyped and 2000 records of reproductive traits were used in order to retrieve information about the allele frequencies and the association of the RBP4 gene with main reproductive characteristics of the population. A deviation from the Hardy-Weinberg equilibrium was observed as a result of the AB genotype excess...
2016: Genetics Research International
https://www.readbyqxmd.com/read/26788372/de-novo-assembly-and-transcriptome-characterization-of-canine-retina-using-high-throughput-sequencing
#18
Bhaskar Reddy, Amrutlal K Patel, Krishna M Singh, Deepak B Patil, Pinesh V Parikh, Divyesh N Kelawala, Prakash G Koringa, Vaibhav D Bhatt, Mandava V Rao, Chaitanya G Joshi
We performed transcriptome sequencing of canine retinal tissue by 454 GS-FLX and Ion Torrent PGM platforms. RNA-Seq analysis by CLC Genomics Workbench mapped expression of 10,360 genes. Gene ontology analysis of retinal transcriptome revealed abundance of transcripts known to be involved in vision associated processes. The de novo assembly of the sequences using CAP3 generated 29,683 contigs with mean length of 560.9 and N50 of 619 bases. Further analysis of contigs predicted 3,827 full-length cDNAs and 29,481 (99%) open reading frames (ORFs)...
2015: Genetics Research International
https://www.readbyqxmd.com/read/26783467/study-of-cysteine-rich-protein-61-genetic-polymorphism-in-predisposition-to-fracture-nonunion-a-case-control
#19
Sabir Ali, Syed Rizwan Hussain, Ajai Singh, Vineet Kumar, Shah Walliullah, Nazia Rizvi, Manish Yadav, Mohammad Kaleem Ahmad, Abbas Ali Mahdi
Background. Many factors are responsible for this impaired healing, especially in long bones, but a possible genetic predisposition for the development of this complication remains unknown till now. In the present study, we aim to examine the CYR61 gene polymorphism in fracture nonunion patients and the correlation with clinical findings. Materials and Methods. We performed SNP analysis of the CYR61 gene in 250 fracture nonunion patients and 250 healthy subjects were genotyped in this hospital-based case control study, and 56 cases were further evaluated for mRNA expression of CYR61 by real-time quantitative reverse-transcription PCR...
2015: Genetics Research International
https://www.readbyqxmd.com/read/26693353/frequency-distribution-of-mannose-binding-lectin-2-and-vitamin-d-receptor-gene-variants-putative-markers-for-tuberculosis
#20
Anuroopa Gupta, Harish Padh
Genetic polymorphism in Mannose Binding Lectin-2 (MBL-2) and Vitamin D Receptor (VDR) is known to influence the susceptibility to tuberculosis. The objective of the present study was to evaluate the frequency distribution of the MBL-2 promoter and structural polymorphism (-550 H/L, -221 Y/X, and +4 P/Q; R52C, G54D, and G57F) and VDR polymorphism (FokI, BsmI, TaqI, and ApaI) in healthy individuals of Indian population and comparative analysis with the global population. In Indian population, the frequency of VDR mutant alleles "f" for FokI, "b" for BsmI, "t" for TaqI, and "a" for ApaI was 25%, 54%, 30%, and 61%, respectively...
2015: Genetics Research International
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