Influence of TP53 gene somatic mutations in Helicobacter pylori infected gastric tumor
Publication date: September 2018 Source:Meta Gene, Volume 17 Author(s): Souvik Ghatak, Payel Chakraborty, Subbarayan Sarathbabu, Jeremy L. Pautu, John Zohmingthanga, C. Lalchhandama, Nachimuthu Senthil Kumar Genetic alteration in TP53 gene can proliferate the tumor formation in gastric cancer and the frequency of these somatic mutations can vary in different geographical populations. In the present study, sequencing of the coding regions of TP53 gene, real time gene expression and immunohistochemistry analysis were performed in gastric tumor samples. H. pylori infected tumor, with or without cagA genotype revealed high fr...
Source: Meta Gene - May 31, 2018 Category: Genetics & Stem Cells Source Type: research

Spectrum of clinical manifestations of SLE patients from India and its correlation with KIR gene polymorphism
Conclusion Quite a few of the genes of the KIR, which are not uncommon in Indian population are also significantly associated with SLE in Indian patients. Few KIR genes can be used as biomarkers to understand the severity of the disease. The KIR genes in this cohort lead to decreased inhibitory signal and increased activation of NK cells and therefore causing increased apoptosis and formation of autoantibodies. (Source: Meta Gene)
Source: Meta Gene - May 30, 2018 Category: Genetics & Stem Cells Source Type: research

Analysis of ABL kinase domain mutations as a probable cause of imatinib resistance in Chronic Myeloid Leukemia patients of Kashmir
Publication date: September 2018 Source:Meta Gene, Volume 17 Author(s): Niyaz A. Azad, Zafar A. Shah, Arshad A. Pandith, Roohi Rasool, Javed A. Rasool, Shahid M. Baba, Sheikh A. Aziz, Samoon Jeelani The phenomenon of imatinib resistance in Chronic Myeloid Leukemia (CML) can be mediated by “BCR-ABL fusion transcript dependent” and “BCR-ABL fusion transcript independent” pathways. The main means of “BCR-ABL fusion transcript dependent” pathway, responsible for 40–90% of such cases, is the occurrence of Kinase Domain (KD) mutations. The aim of this study was to evaluate the commonly ...
Source: Meta Gene - May 27, 2018 Category: Genetics & Stem Cells Source Type: research

Association of polymorphism in P16 and myeloperoxidase genes with susceptibility to oral lesions in North Indian population
Conclusion Our results suggest that single nucleotide polymorphisms in P16 genes may affect the susceptibility to oral lesions; while genotype of MPO showed no association with the development of oral lesions. (Source: Meta Gene)
Source: Meta Gene - May 27, 2018 Category: Genetics & Stem Cells Source Type: research

Evaluation of caries experience in two genders and ENAM polymorphism in Iranian adults
In this study, the caries rates for females were approximately two times higher than the frequency of caries among males. The genotyping results showed that there were no differences in allelic and genotypic frequencies between the case and control groups. Further studies are required to identify the susceptible loci for dental caries in our case and control groups. (Source: Meta Gene)
Source: Meta Gene - May 26, 2018 Category: Genetics & Stem Cells Source Type: research

Expression analysis of CBR3-AS1 and androgen receptor genes in breast cancer
Publication date: September 2018 Source:Meta Gene, Volume 17 Author(s): Sepideh Faramarzi, Ali Dianatpour, Lobat Geranpayeh, Reza Mirfakhraie, Roshanak Shams, Mahnaz Seifi-Alan, Vahid Kholghi Oskoei, Soudeh Ghafouri-Fard Long non-coding RNAs (lncRNAs) have been shown to participate in the pathogenesis of a variety of cancers including breast cancer. The lncRNA Carbonyl reductase 3-Antisense 1 (CBR3-AS1) has been implicated in some human malignancies in association with androgen receptor (AR). In the present study, we evaluated the expression of CBR3-AS1 and AR transcripts in 52 breast cancer tissues, their corresponding a...
Source: Meta Gene - May 22, 2018 Category: Genetics & Stem Cells Source Type: research

Shortening the list of essential genes in the human genome by network analysis
Publication date: Available online 4 May 2018 Source:Meta Gene Author(s): Rasoul Godini, Hossein Fallahi Recently, several lists for human essential genes have been presented by several studies. Expectedly, many known and important genes are among those that are crucial for cellular activities. However, in-depth analysis of these genes is required to fully understand their functions and involvements in cellular functions. Besides, finding the regulatory elements responsible for essential genes expression would be helpful to understand the core gene regulatory network of the cell. Although the primary reports on essential ...
Source: Meta Gene - May 5, 2018 Category: Genetics & Stem Cells Source Type: research

Discovering microRNAs and their targets in the red flour beetle Tribolium castaneum from expressed sequence tags
Publication date: September 2018 Source:Meta Gene, Volume 17 Author(s): Chandan Badapanda, Ankita Rathore MicroRNAs (miRNAs) are endogenous, single stranded, small RNAs that are 18–24 nucleotides in length, ubiquitously found in eukaryotes and in some viruses. miRNAs majorly help in down regulation of genes by binding to the complimentary sites on 3′ untranslated regions of target messenger RNA (mRNAs), and more than 30% of the genes in animals are believed to be under the control of miRNAs. The red flour beetle, Tribolium castaneum is a global pest of stored agricultural products. The use of insecticides to c...
Source: Meta Gene - May 5, 2018 Category: Genetics & Stem Cells Source Type: research

Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families
Conclusions Our findings broaden the molecular spectrum associated with TYR and OCA2 mutations in Pakistani families, aiding the development and refinement of genetic diagnostic and counselling services in Pakistan. (Source: Meta Gene)
Source: Meta Gene - April 25, 2018 Category: Genetics & Stem Cells Source Type: research

ATF6 polymorphisms and protective effect in diabetic retinopathy
Publication date: Available online 18 April 2018 Source:Meta Gene Author(s): Mina Tayyab, SundusIjaz Maqsood, Aisha Azam, Irfan Muslim, Zehra Agha, Sobia Shafique, Waqas Ahmed, Muhammad Khizar Niazi, Mazhar Ishaq, Nadia Khalida Waheed, Maleeha Azam, Raheel Qamar Activating transcription factor 6 (ATF6) has been observed to be a strong contributor in pathology of diabetes via its angiogenesis and apoptosis role, therefore in the present study we investigated the role of ATF6 polymorphisms (rs1058405; rs11579627; rs13401) in diabetic retinopathy (DR) susceptibility in Pakistani type 2 diabetes mellitus (T2DM) persons. ATF6 ...
Source: Meta Gene - April 19, 2018 Category: Genetics & Stem Cells Source Type: research

The investigation of miR-196a2 rs11614913 with breast cancer susceptibility in south of IRAN
Conclusions This study's results indicated that the TT polymorphic genotype in hsa-miR-196a2 rs11614913 SNP was not related to breast cancer risk among Southern Iranian patients. (Source: Meta Gene)
Source: Meta Gene - April 15, 2018 Category: Genetics & Stem Cells Source Type: research

Subtractive proteomics revealed plausible drug candidates in the proteome of multi-drug resistant Corynebacterium diphtheriae
Publication date: Available online 12 April 2018 Source:Meta Gene Author(s): Zunera Khalid, Sajjad Ahmad, Saad Raza, Syed Sikander Azam Multi-drug resistant Corynebacterium diphtheriae, an etiological agent of diphtheria, is a major health concern because of its resistance to major clinically used antibiotics. The said pathogen is highly resistant to lincosamides, macrolides, streptogramin, tetracycline, trimethoprim, chloramphenicol and benzylpenicillin and as such, required an urgent need of novel drug targets identification. Here, in this present study, we employed an in silico based approach for identifying potential ...
Source: Meta Gene - April 14, 2018 Category: Genetics & Stem Cells Source Type: research

Detect the presence of LeIF gene in the Leishmania tropica genome and sequence it
Publication date: Available online 11 April 2018 Source:Meta Gene Author(s): Razan Abbara, Mohammad Maarouf Leishmaniasis remains one of the most neglected diseases globally and affects primarily the poor in developing countries. Due to the absence of safe and effective drug, the prevention of infection of this disease is very important as it requires an effective vaccine is not yet available. Leishmania eukaryotic initiation factor (LeIF) protein acts an inhibitor of the Leishmania major growth in murine macrophages and reduces interleukin-4 in lymph nodes. We aimed to detect its presence in Leishmania tropica genome and...
Source: Meta Gene - April 11, 2018 Category: Genetics & Stem Cells Source Type: research

Association study of six single nucleotide polymorphisms with obesity in two independent Iberian samples
In this study, we investigate the reproducibility in two independent samples of the association and weighted GRS previously proposed for six SNPs as predictors for obesity susceptibility. A case-control study was performed using one sample comprising 346 unrelated Portuguese children [6–12 years-old; 191 controls and 155 obese], and a second sample comprising 332 unrelated Spanish adults [18–60 years-old; 217 controls and 115 obese]. Polymorphisms located on FTO, TFAP2B, SEC16B, ETV5, and SH2B1 genes were genotyped by allelic discrimination TaqMan assays. After Bonferroni corrections we found nominal signif...
Source: Meta Gene - April 10, 2018 Category: Genetics & Stem Cells Source Type: research

Association of BRCA2 variants with breast cancer risk: A meta-analysis
Publication date: Available online 9 April 2018 Source:Meta Gene Author(s): Sepideh Faramarzi, Ali Dianatpour, Soudeh Ghafouri-Fard BRCA2 is a tumor suppressor gene involved in repair of double strand breaks in DNA. Germ line mutations within this gene are implicated in familial breast and ovary cancer syndromes. Moreover, several studies have assessed association between single nucleotide polymorphisms (SNPs) within this gene and risk of breast cancer. We performed a meta-analysis to assess the association between rs4987117, rs1799955, rs766173, rs15869 SNPs within BRCA2 gene and risk of breast cancer. The pooled odds ra...
Source: Meta Gene - April 9, 2018 Category: Genetics & Stem Cells Source Type: research

Mutation screening of the BRCA1 gene in sporadic breast cancer in the Central of Iran
Publication date: Available online 7 April 2018 Source:Meta Gene Author(s): Mandana Behbahani, Mokhtar Nosrati, Hassan Mohabatkar The purpose of the work was to study mutation screening of BRCA1 in Iranian patients with sporadic breast cancer. We carried out a mutational analysis of BRCA1 gene in 101 breast cancer patients from a population in Central of Iran. The comparison of DNA of paraffin-embedded breast cancer tissue from patients was studied, and breast tissue from 30 unrelated normal women without cancer was selected as controls. The entire BRCA1 coding sequence was amplified by PCR with primers especially designe...
Source: Meta Gene - April 7, 2018 Category: Genetics & Stem Cells Source Type: research

Circulating miR-196a-5p miR-373-3p and miR-375: Novel candidate biomarkers for diagnosis of acute coronary syndrome
Conclusion We demonstrated that miR-196a-5p, miR-373-3p and miR-375 are expressed differently in our patients and that these miRNAs may become a promising biomarker for these diseases since they have diagnostic value for CAD and ACS. (Source: Meta Gene)
Source: Meta Gene - April 4, 2018 Category: Genetics & Stem Cells Source Type: research

Association of APOE  − 219G  & gt;  T and −427T  & gt;  C polymorphic variants in transcriptional regulatory region of APOE gene with gallbladder stone: A north Indian case-control study
Publication date: Available online 4 April 2018 Source:Meta Gene Author(s): Shipra Dwivedi, Amit Kumar Madeshiya, Shraddha Singh, Abhjeet Chandra, Abbas Ali Mahdi Gallbladder stone (GBS) is a major cause of morbidity and mortality throughout the world including India. The significant role of APO E in the regulation of lipid metabolism raises the possibility that APO E promoter gene polymorphisms may be a predisposing factor for GBS formation. In this case control study total 358 subjects (n = 102 GBS subjects and n = 256 healthy control) between the age group of 18 to 70 years were enrolled. Three APO E promoter...
Source: Meta Gene - April 4, 2018 Category: Genetics & Stem Cells Source Type: research

Role of matrix metalloproteinase-9 polymorphisms in basement membrane degradation and pathogenesis of oral submucous fibrosis
Publication date: Available online 4 April 2018 Source:Meta Gene Author(s): Atul Katarkar, Chandraday Prodhan, Sanjit Mukherjee, Jay G. Ray, Keya Chaudhuri Oral submucous fibrosis (OSMF) is regarded as a collagen and collagenase metabolic disorder. Aberrant expression of matrix metalloproteinases (especially MMP-9) plays important role in remodeling of extracellular matrix (ECM) during development of OSMF. Single nucleotide polymorphisms (SNPs) in MMP-9 promoter and coding region have been demonstrated to be associated with several diseases. In this case-control study, 196 controls and 189 OSMF patients were genotyped at ...
Source: Meta Gene - April 4, 2018 Category: Genetics & Stem Cells Source Type: research

Elucidation of bacterial species during childhood diarrhea through 16S rRNA Illumina Miseq approach
Publication date: Available online 28 March 2018 Source:Meta Gene Author(s): Nutan, Harish Changotra, Neelam Grover, Jitendraa Vashistt Diarrhea causes a debilitating infectious illness among children, especially in developing countries with higher mortality and morbidity rates. Gastrointestinal (GI) tract is occupied by complex microbial-communities structures and the composition of indigenous microbial-consortia gets altered during diseases associated with GI tract. However, effect of microbial imbalance and proliferation in childhood diarrhea severity is less understood. Therefore, present study is focused to compare c...
Source: Meta Gene - March 28, 2018 Category: Genetics & Stem Cells Source Type: research

Association of Human Leucocyte Antigen (HLA) class II with systemic lupus erythematosis (SLE) patients from western India
Conclusions Our data suggest an association between HLA class II with susceptibility to SLE in the Indian population. DQB1*05 and DQA1*01 are strongly positively associated with SLE in western Indian SLE patients. DRB1*04, DRB1*11, DQB1*03 and DQA1*03 are negatively associated with SLE in western India. (Source: Meta Gene)
Source: Meta Gene - March 28, 2018 Category: Genetics & Stem Cells Source Type: research

Association study between STAT4 polymorphisms and susceptibility to systemic lupus erythematosus disease: Systematic review and meta-analysis
Conclusions In summary, this study reported association between rs7574865 and increased risk of SLE, although rs7601754 indicated association with decreased SLE risk. (Source: Meta Gene)
Source: Meta Gene - March 28, 2018 Category: Genetics & Stem Cells Source Type: research

Discovering microRNA and their targets in the red flour beetle Tribolium castaneum from expressed sequence tags
Publication date: Available online 27 March 2018 Source:Meta Gene Author(s): Chandan Badapanda, Ankita Rathore MicroRNAs (miRNAs) are endogenous, single stranded, small RNAs that are 19–24 nucleotides in length, ubiquitously found in eukaryotes and in some viruses. miRNAs majorly help in down regulation of genes by binding to the complimentary sites on 3′ untranslated regions of target messenger RNA (mRNAs), and more than 30% of the genes in animals are believed to be under the control of miRNAs. The red flour beetle, Tribolium castaneum is a global pest of stored agricultural products. The use of insecticides...
Source: Meta Gene - March 27, 2018 Category: Genetics & Stem Cells Source Type: research

Association between interleukin-17 gene polymorphism and rheumatoid arthritis among Egyptians
Conclusion The results of this study suggested that the IL-17A and IL-17F gene polymorphisms may not be associated with the susceptibility to RA among Egyptian population. (Source: Meta Gene)
Source: Meta Gene - March 26, 2018 Category: Genetics & Stem Cells Source Type: research

Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families.
Conclusions Our findings broaden the molecular spectrum associated with TYR and OCA2 mutations in Pakistani families, aiding the development and refinement of genetic diagnostic and counselling services in Pakistan. (Source: Meta Gene)
Source: Meta Gene - March 23, 2018 Category: Genetics & Stem Cells Source Type: research

Phylogeny based on 16S rRNA sequence and morphology of selected mosses of Mount Abu, Rajasthan (India)
We examined data set that comprises of ten moss species and four outgroup taxa drawn from liverworts. The molecular data contain nucleotide sequences derived from plastid DNA regions, i.e. partial 16S rRNA sequences and the morphological data included 18 characters derived from own observations and published literature. Congruence between the two data sets was investigated by computing several indices. The morphological data set contains poor phylogenetic signals. The results suggest that 1) the mosses, including Sphagnum and Takakia, are monophyletic, 2) Sphagnum and Takakia are placed together and sister to remaining mos...
Source: Meta Gene - March 17, 2018 Category: Genetics & Stem Cells Source Type: research

Absence of APE1 (Asp148Glu) gene polymorphism in North-West Indian population: A comparison with world population
In this study, we evaluated genotype and allele frequencies of the APE1 (rs 1130409, Asp148Glu; T2197G) gene polymorphism in 450 subjects from North-West India and compared it with other Indian and world populations. Genomic DNA extraction was carried out using standard Phenol-chloroform method and ethanol precipitation. Genotyping was carried out by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) and run on 10% PAGE. Genotyping results were confirmed by direct DNA sequencing and running 10% of the samples in duplicate. It was found that APE1 (rs 1130409; Asp148Glu; T2197G) gene polymorphism ...
Source: Meta Gene - March 12, 2018 Category: Genetics & Stem Cells Source Type: research

A new mutation in steroidogenic acute regulatory protein (StAR) is segregated in an Iranian family
Publication date: Available online 11 March 2018 Source:Meta Gene Author(s): Soudeh Ghafouri-Fard, Vahid Reza Yassaee, Nasrin Alipour, Zeinab Ravesh, Mohammad Miryounesi Lipoid congenital adrenal hyperplasia (LCAH) is the most fatal form of defects in steroid hormone biosynthesis presented with in 46,XY sex reversal and severe fatal salt-losing crisis in the infancy. The disease is caused by mutation in the steroidogenic acute regulatory protein (StAR) coding gene. Several mutations have been found in this gene in different populations with the possible existence of a founder effect. In the current study, we present a nov...
Source: Meta Gene - March 11, 2018 Category: Genetics & Stem Cells Source Type: research

Association of genetic variants with macronutrient intake in Circassian and Chechan populations in relation to diabetes
Conclusion we have identified a genetic association between intake of carbohydrate, calorie, vitamin B2 and caffeine in the Circassian population and calorie intake in the Chechan population. Three of these intake traits (carbohydrate, calorie and vitamin B2) were correlated with T2D development in Circassians. The association between macronutrient intake and diabetes development can shed light on causative variants for the pathogenesis of T2D. (Source: Meta Gene)
Source: Meta Gene - March 6, 2018 Category: Genetics & Stem Cells Source Type: research

OncomiR-27a rs895819 variant and breast cancer risk: An updated meta-analysis
In conclusion overall miR-27a (rs895819) polymorphism was not associated with BC risk. However, the rs895819*G variant may confer protection against cancer in Caucasian and familial BC. Well-designed studies with larger cohorts in diverse ethnic populations are warranted. (Source: Meta Gene)
Source: Meta Gene - March 5, 2018 Category: Genetics & Stem Cells Source Type: research

Differential expression profiles of miRNAs and correlation with clinical outcomes in acute myeloid leukemia
Conclusions Deregulated expressions of miRNAs pose significant impact on the clinical outcomes in AML patients. MicroRNA therapeutics indeed has a tremendous potential in the treatment of AML. (Source: Meta Gene)
Source: Meta Gene - March 3, 2018 Category: Genetics & Stem Cells Source Type: research

A potential association between mutations in the iNOS cDNA 3 ′ stretch and oral squamous cell carcinoma - A preliminary study
Publication date: Available online 26 February 2018 Source:Meta Gene Author(s): Sapna Khowal, Swatantra Kumar Jain, Saima Wajid Oral cancers are linked with tobacco, areca nut and alcohol addictive proclivities. The oral squamous cell carcinoma (OSCC) comprises more than 90% cases of oral cancers. The Homo sapiens inducible nitric oxide synthase (iNOS) gene plays crucial role in OSCC pathologies. The given study analyzed the nucleotide mutations existent within two targets of interest namely iNOS cDNA 5′ stretch and iNOS cDNA 3′ stretch, using cDNA pool of cancer and pre-cancer oral biopsies employing Q PCR-Tm...
Source: Meta Gene - February 27, 2018 Category: Genetics & Stem Cells Source Type: research

Neuropeptide Y Leu7Pro polymorphism is not associated with risk of developing obesity in Pakistani population
Conclusion The NPY SNP Leu7Pro is found to be extremely rare in Pakistani population and does not contribute towards risk of developing obesity. (Source: Meta Gene)
Source: Meta Gene - February 27, 2018 Category: Genetics & Stem Cells Source Type: research

Polymorphisms rs2233575 and rs712701 in the paired box 4 gene are not associated with type 1 diabetes in children
In conclusion, the polymorphisms rs2233575 and rs712701 were not associated with T1D in the. studied population. (Source: Meta Gene)
Source: Meta Gene - February 25, 2018 Category: Genetics & Stem Cells Source Type: research

Association of KCNJ11(RS5219) gene polymorphism with biochemical markers of glycemic status and insulin resistance in gestational diabetes mellitus
Conclusion The Polymorphism of KCNJ11 (rs5219) gene is associated with glycemic status and IR (Insulin Resistance) and pregnant women with T allele were at higher risk of developing GDM. (Source: Meta Gene)
Source: Meta Gene - February 23, 2018 Category: Genetics & Stem Cells Source Type: research

Differential expression analysis of JAK/STAT pathway related genes in breast cancer
Publication date: Available online 21 February 2018 Source:Meta Gene Author(s): Jemmy Christy, L. Priyadharshini Aberrant activation of intracellular signaling pathways confer malignant properties on cancer cells in humans. The Janus kinase (JAK)/signal transducer and activator of transcription (STAT) pathway is involved in the regulation of various aspects of the hematological system and immune regulation, and thus the JAK/STAT pathway genes are the important component of cytokine signaling. Their function as activators of various mediators of inflammation and their role in carcinogenesis puts them at important junctures...
Source: Meta Gene - February 22, 2018 Category: Genetics & Stem Cells Source Type: research

Implication of ITS phylogeny for biogeographic analysis, and comparative study of morphological and molecular interspecies diversity in Indian Impatiens
This study gave an idea about interspecies diversity in Indian Impatiens and suggests the suitability of ISSR markers for further interspecies diversity studies in Impatiens. Graphical abstract (Source: Meta Gene)
Source: Meta Gene - February 22, 2018 Category: Genetics & Stem Cells Source Type: research

Association of MicroRNA related single nucleotide polymorphisms 196A-2 and 499 with the risk of hepatocellular carcinoma in Egyptian patients
Conclusions MIR-SNP-499 might affect the susceptibility of Egyptians to HCC while, MIR-SNP-196A-2 may affect the HCC risk in Egyptians with HCV infection. (Source: Meta Gene)
Source: Meta Gene - February 22, 2018 Category: Genetics & Stem Cells Source Type: research

A simulations approach for meta-analysis of genetic association studies based on additive genetic model
Publication date: Available online 21 February 2018 Source:Meta Gene Author(s): Majnu John, Todd Lencz, Anil K Malhotra, Christoph U Correll, Jian-Ping Zhang Meta-analysis of genetic association studies is being increasingly used to assess phenotypic differences between genotype groups. When the underlying genetic model is assumed to be dominant or recessive, assessing the phenotype differences based on summary statistics, reported for individual studies in a meta-analysis, is a valid strategy. However, when the genetic model is additive, a similar strategy based on summary statistics will lead to biased results. This fac...
Source: Meta Gene - February 22, 2018 Category: Genetics & Stem Cells Source Type: research

Association of interleukin-8 polymorphism (+781 C/T) with the risk of ovarian cancer
Publication date: Available online 22 February 2018 Source:Meta Gene Author(s): Mohammad-Kian Zarafshani, Azin Shahmohammadi, Asad Vaisi-Raygani, Hoda Bashiri, Kheirollah Yari IL-8 is a chemokine which plays an essential role in tumorigenesis, specifically for tumor growth, angiogenesis and invasion. Recent studies have determined that IL-8 +781C/T polymorphism correlates with some human cancers. The purpose of current was to clarify the association of interleukin-8 polymorphism (+781 C/T) with the risk of ovarian cancer. In this case-control study, 150 samples including 50 specimens of ovarian tissue from female patients...
Source: Meta Gene - February 22, 2018 Category: Genetics & Stem Cells Source Type: research

Report of three cases with hereditary spastic paraplegia and investigation of the mutations
Publication date: Available online 21 February 2018 Source:Meta Gene Author(s): Mohammad Miryounesi, Seyed Mohammad Bagher Tabei, Mehdi Dianatpour, Majid Fardaei, Soudeh Ghafouri-Fard Hereditary spastic paraplegia (HSP) includes a group of clinically and genetically heterogeneous disorders with multiple genetic loci participating in its pathogenesis. Here we report three Iranian patients with HSP. Molecular analyses revealed that they have mutations in AP4M1 gene (NM_004722:c.802C>T, p.R268X and c.1225T>C, p.F409L) and AP4E1 gene (NM_007347: c.3212_3213delCT, p.L1072Afs*10). All of them were born to consangu...
Source: Meta Gene - February 21, 2018 Category: Genetics & Stem Cells Source Type: research

Studying association of GTF2H4, SULF1, OAS3, and IFNG genes polymorphism and risk of head and neck cancer in Southern Punjab, Pakistan
Publication date: June 2018 Source:Meta Gene, Volume 16 Author(s): Juweria Khawar, Nighat Fatima, Mehreen Ismail, Syed Aun Muhammad Genetic variations develop inherited tendency to progress cancer. The incidence rate of head and neck cancer (HNC) is 15–40% of all cancer types worldwide but this ratio is worse in South Asian region of Pakistan. We collected 185 samples and observed variations in IFNG, GTF2H4, OAS3 and SULF1 genes of HNC samples associated with tobacco, betel leaf and nuts, naswar and gutka. We performed the tetra-arm PCR and found significant allelic associations of IFNG rs11177074 (P = 0.001135)...
Source: Meta Gene - February 21, 2018 Category: Genetics & Stem Cells Source Type: research

Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA
In this study, 25 different mutations were identified among 68 unrelated South-American patients with MPS IVA. Of the 25 alterations, 7 were novel, being predicted as probably pathogenic by bioinformatics analysis. The bioinformatics findings together with the lack of observation of these alterations in the existing databases, suggests that they are disease-causing mutations, and were correlated with biochemical findings. Additionally, we performed the analysis using intragenic polymorphisms to identify some association between any particular mutation and specific haplotype in Brazilian patients. We identified 14 different...
Source: Meta Gene - February 21, 2018 Category: Genetics & Stem Cells Source Type: research

Significant influence of GSTP1 Gene Ile105Val polymorphic sequence variation for elevated risk in predisposition to malignant glioma
Conclusion Our study shows that both allelic and genotypic variants of GSTP1 Ile105Val is strongly associated with higher risk to glioma in our population and further valine-related variant allele is connected with higher susceptibility to the disease in smokers. (Source: Meta Gene)
Source: Meta Gene - February 20, 2018 Category: Genetics & Stem Cells Source Type: research

Discovering a familial Xp11.4 microduplication: Does the mother matter?
We describe two sons one with a 2q37.3 deletion and a Xp11.4 duplication and the other with Xp11.4 duplication only, identified by array-CGH. They both presented a phenotype characterized by poor growth, mild facial dysmorphisms, autism and developmental delay. The 2q37.3 identified chromosomal anomaly was inherited from the healthy father and included approximately 8 known genes, while the Xp11.4 duplication resulted inherited from the healthy mother and involved 13 known genes. Of these TSPAN7 and CASK, localized on Xp11.4, genes are of special interest. The alteration on the X chromosome could be more related to the cli...
Source: Meta Gene - February 6, 2018 Category: Genetics & Stem Cells Source Type: research

Association between serum microRNA-605 and microRNA-623 expression and essential hypertension in Egyptian patients
Publication date: June 2018 Source:Meta Gene, Volume 16 Author(s): Heba K. Badawy, Dina M. Abo-Elmatty, Noha M. Mesbah Essential hypertension is widespread and has significant morbidity and mortality. However, the genetic basis of the disease is unknown. MicroRNAs are post-transcriptional regulators and have been implicated in development of the disease. The aim of this study was to assess the relationship between serum microRNA-605 and microRNA-623 expression and essential hypertension in Egyptian patients. MicroRNA expression in serum was determined in hypertensive patients and normotensive controls by quantitative real...
Source: Meta Gene - February 4, 2018 Category: Genetics & Stem Cells Source Type: research

Cholesterol 7- alpha hydroxylase gene (CYP7A1) promoter polymorphism rs3808607 as a risk factor for pulmonary tuberculosis in Egypt
Conclusion CYP7A1 SNP rs3808607 is significantly associated with development of pulmonary tuberculosis and may confer susceptibility to it in Egyptian subjects. (Source: Meta Gene)
Source: Meta Gene - February 3, 2018 Category: Genetics & Stem Cells Source Type: research

A multifactor dimensionality reduction model of gene polymorphisms and an environmental interaction analysis in type 2 diabetes mellitus study among Punjabi, a North India population
In conclusion, it is suggested that pathogenesis of T2DM, obesity and hypertension involves interplay of a variety of susceptibility alleles and environment. The gene-gene and gene-environment interactions are not only possible, but, are probably ubiquitous in determining the susceptibility of complex human diseases. Further studies on epistatic interactions are warranted to elucidate their possible underlying role in pathogenesis of T2DM. (Source: Meta Gene)
Source: Meta Gene - February 2, 2018 Category: Genetics & Stem Cells Source Type: research

Association between serum microRNA 605 and microRNA-623 expression and essential hypertension in Egyptian patients
Publication date: Available online 1 February 2018 Source:Meta Gene Author(s): Heba K. Badawy, Dina M. Abo-Elmatty, Noha M. Mesbah Essential hypertension is widespread and has significant morbidity and mortality. However, the genetic basis of the disease is unknown. MicroRNAs are post-transcriptional regulators and have been implicated in development of the disease. The aim of this study was to assess the relationship between serum microRNA-605 and microRNA-623 expression and essential hypertension in Egyptian patients. MicroRNA expression in serum was determined in hypertensive patients and normotensive controls by quant...
Source: Meta Gene - February 2, 2018 Category: Genetics & Stem Cells Source Type: research

Co-evolving pairs of complementary nucleotide sequence regions as candidates for bundling signals in viruses with segmented genomes
Publication date: Available online 1 February 2018 Source:Meta Gene Author(s): Yoshiyuki Suzuki Some of RNA viruses with segmented genomes are believed to undergo selective packaging, in which one copy of each genomic segment is incorporated into a virion. The selective packaging is thought to be mediated by supra-molecular complex formation of genomic RNA segments through inter-segmental base pairing of complementary nucleotide sequence regions termed the bundling signal. Here the nucleotide sequences of 10 genomic segments (large: L1, L2, and L3; medium: M1, M2, and M3; and small: S1, S2, S3, and S4) for 29 avian (ARV) ...
Source: Meta Gene - February 2, 2018 Category: Genetics & Stem Cells Source Type: research