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https://www.readbyqxmd.com/read/30262699/detection-of-c-139g-a-d47n-mutation-in-gja8-gene-in-an-extended-family-with-inheritance-of-autosomal-dominant-zonular-cataract-without-pulverulent-opacities-by-exome-sequencing
#1
Padma Gunda, Mamata Manne, Syed Saifuddin Adeel, Ravi Kumar Reddy Kondareddy, Padma Tirunilai
The aim of this studywas to identify the gene causing bilateral autosomal dominant zonular congenital cataract (ADZCC) without pulverulent opacities in an extended Muslim family by exome sequencing and subsequent analysis. An extended family of 37 members (14 affected and 23 unaffected) who belong to different nuclear families was screened for causative gene. Proband and her unaffected son were screened for causative variant by exome sequencing followed by Sanger sequencing of the proband's entire nuclear family...
September 2018: Journal of Genetics
https://www.readbyqxmd.com/read/30252014/biosurfactant-functionalized-porphyrin-chromophore-that-forms-j-aggregates
#2
Shekar Mekala, Kyle C Peters, Kenneth D Singer, Richard A Gross
Structurally complex biosynthesized building blocks whose structures can be systematically varied are of great interest for the synthesis of manipulable self-organizing supramolecular systems. Sophorolipids (SLs) are an important class of glycolipid biosurfactants that consists of a sophorose (glucose disaccharide) polar head group that allows structural diversification by full or selective acetylation at the 6'- and 6''-positions. Porphyrins are a group of naturally-occurring heterocyclic macromolecular organic compounds that have efficient charge transfer properties...
October 10, 2018: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/30222353/ion-gel-network-formation-in-an-ionic-liquid-studied-by-time-resolved-small-angle-neutron-scattering
#3
Kei Hashimoto, Kenta Fujii, Kengo Nishi, Mitsuhiro Shibayama
We report the time-resolved small-angle neutron scattering (SANS) study of tetra-arm poly(ethylene glycol) (TetraPEG) polymer network formation in a typical ionic liquid (IL), 1-ethyl-3-methylimidazolium bis(trifluoromethanesulfonyl)amide ([C2 mim][TFSA]). To observe time-dependent SANS profiles, the reaction rate for the AB-type cross-end coupling reaction of TetraPEG macromers was controlled by adding an analogous protic IL, 1-ethylimidazolium TFSA ([C2 imH][TFSA]). At polymer concentrations higher than the overlap concentration ( c*), the SANS profile remained unchanged during the gelation reaction, indicating that the network structure was independent of macromer connectivity in a semidiluted solution...
September 27, 2018: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/30192416/the-association-between-st18-gene-polymorphism-and-severe-pemphigus-disease-among-iranian-population
#4
Ifa Etesami, Hassan Seirafi, Narges Ghandi, Hamzeh Salmani, Maedeh Arabpour, Ali Nasrollahzadeh, Amir Teimourpour, Maryam Daneshpazhooh, Mohammad Keramatipour
Recently, ST18 polymorphism has played a role in increasing the risk of pemphigus among some populations such as Egyptian and Jewish. In addition, a variant within the ST18 promoter gene was shown to induce ST18 up-regulation and cytokine secretion leading to keratinocyte susceptibility to anti-desmoglein antibodies. Thus, the present study aimed to assess the ST18 single nucleotide polymorphisms (SNP) relationship with pemphigus, disease severity, and family history among Iranian population. A total of 111 pemphigus patients and 201 healthy controls were genotyped for three ST18 SNPs rs2304365, rs10504140, rs4074067 by using TETRA-ARMS PCR method...
September 7, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/30192358/a-rapidly-recoverable-shape-memory-polymer-with-a-topologically-well-controlled-poly-ethyl-methacrylate-structure
#5
Jingjuan Lai, Xingjian Li, Ruiqing Wu, Jinni Deng, Yi Pan, Zhaohui Zheng, Xiaobin Ding
Many of the unique properties of a conventionally crosslinked shape memory network are not found at the same time, and this is a large challenge for the development of advanced shape memory functional materials. In this work, a topologically well-controlled network shape memory poly(ethyl methacrylate) (CN-SMPEMA) is designed and fabricated by introducing two tetra-armed functional structures simultaneously as well-defined structure units to promote switch segment and net-point uniform distribution via the combined technology of the unique controllable atom transfer radical polymerization (ATRP) and copper(i)-catalyzed azide-alkyne cycloaddition (CuAAC)...
September 19, 2018: Soft Matter
https://www.readbyqxmd.com/read/30149365/the-role-of-epidermal-growth-factor-receptor-egfr-common-gene-mutations-in-iranian-women-with-uterine-fibroids
#6
Paria Nikpey, Tahereh Nazari, Shadi Khalili, Ahmad Ebrahimi
OBJECTIVE: Uterine myomas are benign uterine tumors that originate from smooth muscle cells of the myometrium. This common complication can be associated with irreversible complications, including infertility and malignancy. Better understanding of the genetic characteristics of myoma may effect on treatment. Epidermal growth factor receptor gene (EGFR) is one of the most important genes that has the major role in the pathogenesis of myoma, cell growth, differentiation, proliferation and mutagenesis...
August 16, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/30094750/angiotensin-ii-type-1-receptor-gene-polymorphism-and-serum-angiotensin-converting-enzyme-level-in-egyptian-children-with-systemic-lupus-erythematosus
#7
Rasha Mohamed Saleh Shoaib, Ayman Hammad, Sohier Yahia, Afaf Elsaid, Camelia Adly Abdel-Malak
Angiotensin II, the major effective molecule of the renin-angiotensin system, plays a vital role in the development of systemic lupus erythematosus (SLE). To study angiotensin II type 1 receptor (AT1R) gene polymorphism at (A1166C) in Egyptian children with SLE and its correlation with serum ACE level and SLE manifestations. AT1R gene polymorphism (A1166C) was done in 123 children with SLE in comparison to 100 healthy controls using polymerase chain reaction-based restriction fragment length polymorphism method (PCR-RFLP) and the tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) to confirm the results of the genotyping...
August 9, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/30079177/the-3-rd-degree-of-biomimetism-associating-the-cavity-effect-zn-ii-coordination-and-internal-base-assistance-for-guest-binding-and-activation
#8
A Parrot, S Collin, G Bruylants, O Reinaud
The synthesis and characterization of a resorcinarene-based tetra(imidazole) ligand is reported. The properties of the corresponding ZnII complex are studied in depth, notably by NMR spectroscopy. In MeCN, acid-base titration reveals that one out of the four imidazole arms is hemi-labile and can be selectively protonated, thereby opening a coordination site in the exo position. Quite remarkably, the 4th imidazole arm promotes binding of an acidic molecule (a carboxylic acid, a β-diketone or acetamide), by acting as an internal base, which allows guest binding as an anion to the metal center in the endo position...
June 28, 2018: Chemical Science
https://www.readbyqxmd.com/read/29993342/polymorphisms-in-the-tgf-%C3%AE-1-rs1982037-and-il-2-rs2069762-rs4833248-genes-are-not-associated-with-inhibitor-development-in-iranian-patients-with-hemophilia-a
#9
Niloofar Naderi, Fariba Ebrahimzadeh, Mohammad Jazebi, Ali Namvar, Mehrdad Hashemi, Azam Bolhassani
OBJECTIVES: Development of neutralizing antibodies against factor VIII is the major complication in hemophilia care which makes replacement therapies ineffective. The reports showed that inflammatory cytokines play an important role in inhibitor production. In the present study, the relationship between inhibitor development and the polymorphisms of two cytokine genes was studied in severe hemophiliac patients from Iran. METHODS: In this case-control study, three polymorphisms of immune regulatory genes [TGF-β (rs1982037) and IL-2 (rs2069762, rs4833248)] were analyzed in 100 Iranian hemophilia A patients divided into 55 inhibitor positive and 45 inhibitor negative patients using Tetra primer ARMS PCR, and DNA sequencing...
July 11, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29974095/tetranuclear-and-dinuclear-phenoxido-bridged-copper-complexes-based-on-unsymmetrical-thiosemicarbazone-ligands
#10
J A Isaac, A-T Mansour, R David, A Kochem, C Philouze, S Demeshko, F Meyer, M Réglier, A J Simaan, S Caldarelli, M Yemloul, H Jamet, A Thibon-Pourret, C Belle
We report on the synthesis of new dinucleating phenol-based "end-off" compartmental ligands HLMeH and HLMe2 bearing two different binding sites, one bis(2-methylpyridyl)aminomethyl (BPA) and one thiosemicarbazone (TSC) site, and their corresponding copper(ii) complexes 1t and 2d. With the ligand HLMeH, a tetranuclear entity (1t) has been isolated in the solid state, whereas with HLMe2, which differs from HLMeH by a methyl substituent on the N-terminal amino group of the TSC arm, a dinuclear form (2d) is obtained...
July 24, 2018: Dalton Transactions: An International Journal of Inorganic Chemistry
https://www.readbyqxmd.com/read/29902796/association-of-the-risk-of-dental-caries-and-polymorphism-of-mbl2-rs11003125-gene-in-iranian-adults
#11
Mohammad Javad Mokhtari, Fatemeh Koohpeima, Feyzollah Hashemi-Gorji
This case-control study aimed to investigate the effect of rs11003125 in dental caries. For this purpose, a total number of 404 individuals - from Fars Province in Iran - were studied. The technique of this research was the tetra-primer amplification-refractory mutation system (ARMS)-PCR. Dental caries prevalence among the 404 individuals was assessed by counting the number of decayed, missing, and filled teeth. In this research, individuals were divided into two groups: cases (n = 238) and controls (n = 166), and the peripheral blood samples were used to extract the genomic DNA...
June 14, 2018: Caries Research
https://www.readbyqxmd.com/read/29869739/pcr-based-genotyping-of-snp-markers-in-sheep
#12
Simone Cristina Méo Niciura, Giovanna Gabrielle Cruvinel, Caroline Valério Moraes, Flavia Aline Bressani, Wilson Malagó Junior, Magda Vieira Benavides, Ana Carolina Souza de Chagas
Single nucleotide polymorphisms (SNPs) are the main type of variation in genome, enabling them to be associated with traits of economic importance in livestock. Genome-wide association studies (GWAS) have led to the discovery of SNPs associated with desirable traits in sheep. However, in these studies, SNPs are genotyped by high-throughput methods in genome scale, which are expensive and require sophisticated equipment and analysis methods. Therefore, the goal of this study was to develop a reliable, rapid, and inexpensive polymerase chain reaction (PCR)-based method to genotype a medium number of animals for a few candidate SNPs previously associated with desirable phenotypes in sheep by GWAS, using markers associated with gastrointestinal nematode resistance as a model...
August 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29768494/a-new-method-based-on-snp-of-nrdna-its-to-identify-saccharum-spontaneum-and-its-progeny-in-the-genus-saccharum
#13
Shan Yang, Xueting Li, Fei Huang, Yongji Huang, Xinlong Liu, Jiayun Wu, Qinnan Wang, Zuhu Deng, Rukai Chen, Muqing Zhang
The identification of germplasm resources is an important aspect of sugarcane breeding. The aim of this study was to introduce a new method for identifying Saccharum spontaneum and its progeny. First, we cloned and sequenced nuclear ribosomal DNA internal transcribed spacer (nrDNA-ITS) sequences from 20 Saccharum germplasms. Analysis of these nrDNA-ITS sequences showed a stable mutation at base 89. Primers (FO13, RO13, FI16, and RI16) were then designed for tetra-primer amplification refractory mutation system (ARMS) PCR based on mutations at base 89 of the nrDNA-ITS sequence...
2018: PloS One
https://www.readbyqxmd.com/read/29736222/analysis-of-apolipoprotein-e-genetic-variation-in-patients-with-alzheimer-disease-referred-to-imam-reza-clinic-rasht-iran-in-2015
#14
Amir Reza Ghayeghran, Maryam Akbarshahi, Zivar Salehi, Ali Davoudi-Kiakalayeh
Background: Alzheimer disease (AD) is a progressive neurological degenerative disorder and the most common form of dementia. There are about 100 genes linked to AD including apolipoprotein E (ApoE). This gene exists in the form of three allele polymorphisms of ε2 , ε3 and ε4 and six genotypes of ε2 ε3 , ε2 ε2 , ε3 ε3 , ε2 ε4 , ε3 ε4 , and ε4 ε4 . We aimed to study the association of ApoE polymorphism with AD in Guilan province, Iran. Methods: The study group consisted of 70 AD patients and 100 healthy individuals as a control group...
October 7, 2017: Iranian Journal of Neurology
https://www.readbyqxmd.com/read/29704890/pik3ca-mutation-analysis-in-iranian-patients-with-gastric-cancer
#15
Mostafa Iranpour, Mahyar Nourian, Sana Saffari, Esmaeil Samizadeh, Mahdieh Mirghafori, Shahrokh Iravani, Soudeh Ghafouri-Fard
BAckground: Aberrant activation of phosphatidylinositol-3 kinases (PI3K)/AKT/mTOR (mammalian target of rapamycin) pathway is a critical event during gastric cancer progression. Selective function of AKT inhibitor AZD5363 in PI3KCA mutant gastric cancer necessitates the assessment of PI3KCA mutations in these patients. Methods: The study included 100 patients with gastric cancer who underwent surgical resection at Imam Reza Hospital, Tehran, Iran, between January 2009 and December 2016...
April 29, 2018: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/29696699/polymorphism-of-gdf9-and-bmpr1b-genes-and-their-association-with-litter-size-in-markhoz-goats
#16
B Shokrollahi, S Morammazi
The main objective of this study was to investigate the polymorphism of GDF9 and BMPR1B genes and their relationship with litter size in Markhoz goats. The polymorphism of GDF9 and BMPR1B genes as well-documented genes regarding fecundity in sheep and goat was investigated using RFLP-PCR and a tetra-primer amplification refractory mutation system-PCR (T-ARMS-PCR) in Markhoz goats. The 164 blood samples were collected from the raised goats in Sanandaj Markhoz goat Performance Testing Station. The DNA extraction was carried out by salting-out procedure, and then, PCR was performed using four and two pairs of primers to detect polymorphism in GDF9 and BMPR1B genes, respectively...
August 2018: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/29681991/the-relationship-between-mnsod-val16ala-gene-polymorphism-and-the-level-of-serum-total-antioxidant-capacity-with-the-risk-of-chronic-kidney-disease-in-type-2-diabetic-patients-a-nested-case-control-study-in-the-tehran-lipid-glucose-study
#17
Mehrnaz Abbasi, Maryam S Daneshpour, Mehdi Hedayati, Azadeh Mottaghi, Katayoun Pourvali, Fereidoun Azizi
Background: Several studies have shown significant associations between manganese superoxide dismutase (MnSOD) Val16Ala polymorphism and diabetic complications, but this association has not been explored in relation with chronic kidney disease (CKD) in Type 2 diabetes mellitus (T2DM) patients. Total antioxidant capacity (TAC) level changes in diabetic condition and may play important role in onset or progression of the disease and its complications. The present study investigated the association of MnSOD Val16Ala polymorphism and serum TAC with the risk of CKD in T2DM patients...
2018: Nutrition & Metabolism
https://www.readbyqxmd.com/read/29644922/chemerin-rs17173608-and-vaspin-rs2236242-gene-variants-on-the-risk-of-end-stage-renal-disease-esrd-and-correlation-with-plasma-malondialdehyde-mda-level
#18
Hamid Nomani, Hamid Khanmohamadian, Asad Vaisi-Raygani, Ebrahim Shakiba, Maryam Tanhapour, Zohreh Rahimi
INTRODUCTION: End-stage renal disease (ESRD) is associated with critical kidney illness that seriously affects the lifespan. Genetic factors and oxidative stress could play critical role in the development of ESRD. We assessed the association between chemerin rs17173608 T/G and vaspin rs2236242 T/A genes variants with the risk of ESRD and their correlation with plasma malondialdehyde (MDA) level. MATERIALS AND METHODS: In a case-control study, 131 gender and age-matched unrelated healthy controls and 110 ESRD patients were enrolled...
November 2018: Renal Failure
https://www.readbyqxmd.com/read/29627965/association-of-t-a-polymorphism-in-mir-1302-binding-site-in-cga-gene-with-male-infertility-in-isfahan-population
#19
Mina Jamalvandi, Majid Motovali-Bashi, Farzane Amirmahani, Parisa Darvishi, Kiarash Jamshidi Goharrizi
Infertility occurs in 10-15% of couples worldwide and close to half of it is caused by male factors. One of the genes that can affect male infertility is CGA. Polymorphisms in CGA gene may affect gene expression, therefore affecting male infertility by disrupting the regulation of this gene. One of the polymorphisms is the substitution of T with A in the miR-1302 binding site in the 3' untranslated region of the CGA gene. In this study, we explored this polymorphism in Isfahan population. In this case-control study, by the use of Tetra primer-ARMS-PCR technique, rs6631 has been investigated in 224 infertile men and 196 controls...
August 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29611722/single-nucleotide-polymorphisms-of-fas-and-fasl-genes-and-risk-of-idiopathic-aplastic-anemia
#20
Sadia Rehman, Nusrat Saba, Madiha Naz, Parvez Ahmed, Saeeda Munir, Sumaira Sajjad, Sobia Tabassum, Lubna Naseem
FAS/FASL signaling system plays a vital role in the regulation of apoptosis, envisaged as a death process required for immune surveillance to prevent autoimmunity and tumorigenesis along with several other biological activities. Several single-nucleotide polymorphisms (SNPs) of FAS/FASL system can result in aberrant apoptosis, which can cause different cancers and autoimmune diseases. Aplastic anemia (AA) is an autoimmune dysfunction characterized by peripheral blood pancytopenia associated with hypoplasia of bone marrow...
July 2018: Immunological Investigations
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