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https://www.readbyqxmd.com/read/28186460/vitamin-d-receptor-gene-polymorphisms-metabolic-syndrome-and-type-2-diabetes-in-iranian-subjects-no-association-with-observed-snps
#1
Sakineh Shab-Bidar, Tirang R Neyestani, Abolghassem Djazayery
OBJECTIVE: This study aimed to investigate the associations between metabolic syndrome and type 2 diabetes and the presence of single nucleotide polymorphism of the vitamin D receptor gene in Iranian subjects with type 2 diabetes. SUBJECTS AND METHODS: Overall, 730 Iranian subjects (372 patients and 358 controls) were enrolled in this case-control study. Single nucleotide polymorphisms of the vitamin D receptor gene (FokI, BsmI, ApaI, and TaqI) were genotyped using the restriction fragment length polymorphism method...
February 10, 2017: International Journal for Vitamin and Nutrition Research. Journal International de Vitaminologie et de Nutrition
https://www.readbyqxmd.com/read/28184307/low-back-pain-and-foki-rs2228570-polymorphism-of-vitamin-d-receptor-in-athletes
#2
Sabina Cauci, Francesca Migliozzi, Carlo Simone Trombetta, Ilaria Venuto, Paola Saccheri, Luciana Travan, Giovanni Chiriacò
BACKGROUND: Low back pain (LBP) is common in athletes. LBP can be detrimental to athletic performance and health. Factors predisposing to LBP in athletes remain elusive and require further studies. We investigated whether carriage of a specific genotype and/or allele of vitamin D receptor gene (VDR) FokI polymorphism (rs2228570) was a risk factor for LBP in athletes of different sports disciplines. METHODS: This genotype/phenotype association case-control study included 60 Italian athletes (25 females and 35 males; mean age 33...
2017: BMC Sports Science, Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28176003/assessment-of-individual-cognitive-changes-after-deep-brain-stimulation-surgery-in-parkinson-s-disease-using-the-neuropsychological-test-battery-vienna-short-version
#3
Thomas Foki, Daniela Hitzl, Walter Pirker, Klaus Novak, Gisela Pusswald, Eduard Auff, Johann Lehrner
Long-term therapy of Parkinson's disease with L‑DOPA is associated with a high risk of developing motor fluctuations and dyskinesia. Deep brain stimulation (DBS) of the subthalamic nucleus (STN) can improve these motor complications. Although the positive effect on motor symptoms has been proven, postoperative cognitive decline has been documented. To tackle the impact of DBS on cognition, 18 DBS patients were compared to 25 best medically treated Parkinson's patients, 24 patients with mild cognitive impairment (MCI) and 12 healthy controls using the Neuropsychological Test Battery Vienna short version (NTBV-short) for cognitive outcome 12 months after the first examination...
February 7, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28170338/association-between-vitamin-d-receptor-gene-foki-polymorphism-and-skeletal-fluorosis-of-the-brick-tea-type-fluorosis-a-cross-sectional-case-control-study
#4
Dan Yang, Yang Liu, Yanru Chu, Qing Yang, Wei Jiang, Fuxun Chen, Dandan Li, Ming Qin, Dianjun Sun, Yanmei Yang, Yanhui Gao
BACKGROUND: Brick-tea type fluorosis is a public health concern in the north west area of China. The vitamin D receptor (VDR)-FokI polymorphism is considered to be a regulator of bone metabolism and calcium resorption. However, the association of VDR-FokI polymorphism with the risk of brick-tea type fluorosis has not been reported. MATERIALS AND METHODS: A cross sectional, case control study was conducted in three provinces (Inner Mongolia, Qinghai and Sinkiang) in China...
November 10, 2016: BMJ Open
https://www.readbyqxmd.com/read/28153087/re-engineered-rna-guided-foki-nucleases-for-improved-genome-editing-in-human-cells
#5
Steven Havlicek, Yang Shen, Yunus Alpagu, Michaela B Bruntraeger, Nurdiana B M Zufir, Zhi Yi Phuah, Zhiyan Fu, Norris R Dunn, Lawrence W Stanton
Clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 enables us to generate targeted sequence changes in the genomes of cells and organisms. However, off-target effects have been a persistent problem hampering the development of therapeutics based on CRISPR/Cas9 and potentially confounding research results. Efforts to improve Cas9 specificity, like the development of RNA-guided FokI-nucleases (RFNs), usually come at the cost of editing efficiency and/or genome targetability. To overcome these limitations, we engineered improved chimeras of RFNs that enable higher cleavage efficiency and provide broader genome targetability, while retaining high fidelity for genome editing in human cells...
February 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28134349/vitamin-d-receptor-gene-foki-but-not-taqi-apai-bsmi-polymorphism-is-associated-with-hashimoto-s-thyroiditis-a-meta-analysis
#6
Xiaofei Wang, Wenli Cheng, Yu Ma, Jingqiang Zhu
Four VD receptor (VDR) gene polymorphisms (TaqI, ApaI, FokI and BsmI) have been reported to influence Hashimoto's thyroiditis (HT) risk. However, individual studies have produced inconsistent results. We conducted a comprehensive meta-analysis of eleven case-control studies to better understand roles of the four polymorphisms in HT development. The results showed only FokI polymorphism was significantly associated with the risk of HT (F vs f: OR = 1.44, 95% CI = 1.09-1.91, P = 0.010; FF vs Ff + ff: OR = 1...
January 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28067591/association-between-vitamin-d-receptor-polymorphism-and-serum-vitamin-d-levels-in-children-with-low-energy-fractures
#7
Michal Karpiński, Anna Galicka, Robert Milewski, Janusz Popko, Vladimir Badmaev, Sidney J Stohs
OBJECTIVE: Fractures of bones, especially forearm fractures, are very common in children and their number is increasing. This study was designed to determine the impact of vitamin D serum levels and vitamin D receptor (VDR) polymorphisms on the occurrence of low-energy fractures in children. METHODS: The study group consisted of 100 children with clinically relevant bone fractures and a control group consisted of 127 children without fractures. Total vitamin D [25(OH)D3 plus 25(OH)D2] serum concentrations were evaluated in every patient...
January 9, 2017: Journal of the American College of Nutrition
https://www.readbyqxmd.com/read/27939971/association-between-vitamin-d-receptor-gene-polymorphisms-and-intervertebral-disc-degeneration-a-meta-analysis
#8
Lin Chen, Song Zhao, Feng Niu, Gui-Bin Bi
BACKGROUND: Studies that have investigated the association between vitamin D receptor (VDR) gene polymorphisms and intervertebral disc degeneration (IDD) have yielded inconsistent results. METHODS: To investigate the association between VDR gene polymorphisms and IDD, a systematic literature search for relevant published studies was performed on PubMed, Embase, Web of Science, Cochrane library, Wan-Fang, and CNKI databases. A random effects model was used for heterogeneous data; while a fixed effect model was used for homogenous data...
December 8, 2016: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/27906437/vitamin-d-receptor-polymorphisms-as-tool-for-early-screening-of-severe-bone-loss-in-women-patients-with-rheumatoid-arthritis
#9
G Di Spigna, A Del Puente, B Covelli, E Abete, E Varriale, S Salzano, L Postiglione
OBJECTIVE: Rheumatoid Arthritis (RA) is an autoimmune inflammatory disease that leads to local and systemic arthritis and bone loss. Exploring genetic markers of candidate genes in osteoporosis and inflammatory cytokine genes could be a useful tool for the early identification of bone loss and fracture risk in RA patients. The target of this study is the evaluation and correlation between of Single Nucleotide Polymorphisms (SNPs) of Vitamin D Receptor (VDR) and possible effects on bone loss in RA...
November 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/27905063/efficient-gene-targeting-in-mouse-zygotes-mediated-by-crispr-cas9-protein
#10
Chris J Jung, Junli Zhang, Elizabeth Trenchard, Kent C Lloyd, David B West, Barry Rosen, Pieter J de Jong
The CRISPR/Cas9 system has rapidly advanced targeted genome editing technologies. However, its efficiency in targeting with constructs in mouse zygotes via homology directed repair (HDR) remains low. Here, we systematically explored optimal parameters for targeting constructs in mouse zygotes via HDR using mouse embryonic stem cells as a model system. We characterized several parameters, including single guide RNA cleavage activity and the length and symmetry of homology arms in the construct, and we compared the targeting efficiency between Cas9, Cas9nickase, and dCas9-FokI...
November 30, 2016: Transgenic Research
https://www.readbyqxmd.com/read/27899266/dna-aptamers-against-foki-nuclease-domain-for-genome-editing-applications
#11
Maui Nishio, Daisuke Matsumoto, Yoshio Kato, Koichi Abe, Jinhee Lee, Kaori Tsukakoshi, Ayana Yamagishi, Chikashi Nakamura, Kazunori Ikebukuro
Genome editing with site-specific nucleases (SSNs) can modify only the target gene and may be effective for gene therapy. The main limitation of genome editing for clinical use is off-target effects; excess SSNs in the cells and their longevity can contribute to off-target effects. Therefore, a controlled delivery system for SSNs is necessary. FokI nuclease domain (FokI) is a common DNA cleavage domain in zinc finger nuclease (ZFN) and transcription activator-like effector nuclease. Previously, we reported a zinc finger protein delivery system that combined aptamer-fused, double-strand oligonucleotides and nanoneedles...
November 22, 2016: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/27891515/the-association-between-vdr-gene-polymorphisms-and-diabetic-retinopathy-susceptibility-a-systematic-review-and-meta-analysis
#12
REVIEW
Yun Zhang, Wei Xia, Ping Lu, Huijuan Yuan
Aims. Studies on the associations of vitamin D receptor (VDR) gene polymorphisms with diabetic retinopathy (DR) susceptibility reported conflicting results. A systematic meta-analysis was undertaken to clarify this topic. Methods. A systematic search of electronic databases (PubMed, EMBASE, and CNKI) was carried out until March 31, 2016. The pooled odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of the association. Results. A total of 7 studies fulfilling the inclusion criteria were included in this meta-analysis (649 cases and 707 controls)...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27883072/non-rvd-mutations-that-enhance-the-dynamics-of-the-tal-repeat-array-along-the-superhelical-axis-improve-talen-genome-editing-efficacy
#13
Naoya Tochio, Kohei Umehara, Jun-Ichi Uewaki, Holger Flechsig, Masaharu Kondo, Takehisa Dewa, Tetsushi Sakuma, Takashi Yamamoto, Takashi Saitoh, Yuichi Togashi, Shin-Ichi Tate
Transcription activator-like effector (TALE) nuclease (TALEN) is widely used as a tool in genome editing. The DNA binding part of TALEN consists of a tandem array of TAL-repeats that form a right-handed superhelix. Each TAL-repeat recognises a specific base by the repeat variable diresidue (RVD) at positions 12 and 13. TALEN comprising the TAL-repeats with periodic mutations to residues at positions 4 and 32 (non-RVD sites) in each repeat (VT-TALE) exhibits increased efficacy in genome editing compared with a counterpart without the mutations (CT-TALE)...
November 24, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27836663/vitamin-d-receptor-gene-foki-variant-in-diabetic-foot-ulcer-and-its-relation-with-oxidative-stress
#14
Negin Soroush, Mania Radfar, Armita Kakavand Hamidi, Mohammad Abdollahi, Mostafa Qorbani, Farideh Razi, Ensieh Nasli Esfahani, Mahsa M Amoli
PURPOSE: The patient's suffering and financial costs affiliated with Diabetic Foot Ulcer (DFU), as one of the most important complications of diabetes, are highly undesirable and this highlights the importance of preventive medicine about this disorder. Furthermore hyperglycemia causes generation of free radicals which leads to oxidative stress (OS). Hence, this study aims to examine the association between vitamin D receptor (VDR) gene FokI polymorphism and DFU in Iranian population and also its correlation with OS biomarkers...
January 30, 2017: Gene
https://www.readbyqxmd.com/read/27834325/lack-of-association-between-foki-polymorphism-in-vitamin-d-receptor-gene-vdr-type-2-diabetes-mellitus-in-the-tunisian-population
#15
Imen Mahjoubi, Amani Kallel, Mohamed Hédi Sbaï, Bochra Ftouhi, Meriam Ben Halima, Zeineb Jemaa, Moncef Feki, Hedia Slimane, Riadh Jemaa, Naziha Kaabachi
BACKGROUND & OBJECTIVES: The impact of several environmental and genetic factors on diabetes is well documented. Though the association between the vitamin D receptor (VDR) gene polymorphisms and type 2 diabetes mellitus (T2DM) has been analyzed in different ethnic groups, the results have been inconsistent. The aim of this study was to evaluate the possible association between VDR FokI polymorphism and genetic susceptibility to T2DM in Tunisian population. METHODS: A total of 439 unrelated patients with T2DM and 302 healthy controls were included in the study...
July 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27806471/variations-in-vitamin-d-receptor-gene-adiposity-phenotypes-and-metabolic-profile-in-overweight-women-with-hypovitaminosis-d
#16
Samira Ebrahimof, Hamid Zand, Sakineh Shab-Bidar, Marjan Zarif Yeganeh, Farzaneh Jahangiri, Katayoun Pourvali, Maryam Sadat Daneshpour, Mehdi Hedayati
BACKGROUND: The possible role of vitamin D receptor (VDR) genotypes in determining adiposity phenotypes and cardiovascular risk factors has been suggested previously. The aim of this study was to evaluate the associations of the VDR gene variants with adiposity phenotypes and metabolic profile in Iranian overweight women with hypovitaminos is D. METHODS: Three VDR variants including FokI (rs2228570), BsmI (rs1544410) and rs757343 were detected using PCR-sequencing...
June 30, 2016: Global Journal of Health Science
https://www.readbyqxmd.com/read/27806302/telomere-internal-double-strand-breaks-are-repaired-by-homologous-recombination-and-parp1-lig3-dependent-end-joining
#17
Ylli Doksani, Titia de Lange
Shelterin protects chromosome ends from the DNA damage response. Although the mechanism of telomere protection has been studied extensively, the fate of double-strand breaks (DSBs) inside telomeres is not known. Here, we report that telomere-internal FokI-induced DSBs activate ATM kinase-dependent signaling in S-phase but are well tolerated and repaired efficiently. Homologous recombination contributes to repair, leading to increased telomere length heterogeneity typical of the alternative lengthening of telomeres (ALT) pathway...
November 1, 2016: Cell Reports
https://www.readbyqxmd.com/read/27798234/nuclear-constriction-segregates-mobile-nuclear-proteins-away-from-chromatin
#18
Jerome Irianto, Charlotte R Pfeifer, Rachel R Bennett, Yuntao Xia, Irena L Ivanovska, Andrea J Liu, Roger A Greenberg, Dennis E Discher
As a cell squeezes its nucleus through adjacent tissue, penetrates a basement membrane, or enters a small blood capillary, chromatin density and nuclear factors could in principle be physically perturbed. Here, in cancer cell migration through rigid micropores and in passive pulling into micropipettes, local compaction of chromatin is observed coincident with depletion of mobile factors. Heterochromatin/euchromatin was previously estimated from molecular mobility measurements to occupy a volume fraction f of roughly two-thirds of the nuclear volume, but based on the relative intensity of DNA and histones in several cancer cell lines drawn into narrow constrictions, f can easily increase locally to nearly 100%...
December 15, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27797588/association-between-the-foki-and-apai-polymorphisms-in-the-vitamin-d-receptor-gene-and-intervertebral-disc-degeneration-a-systematic-review-and-meta-analysis
#19
Noel Pabalan, Lani Tabangay, Hamdi Jarjanazi, Luiz Angelo Vieira, Aline Amaro Dos Santos, Caio Parente Barbosa, Luciano Miller Reis Rodrigues, Bianca Bianco
BACKGROUND: Evidence supporting an association of intervertebral disc degeneration (DD) with polymorphisms of the vitamin D receptor (VDR) gene has been controversial. We performed a meta-analysis of these studies to determine if there was substantial evidence to support such an association between the VDR polymorphisms and DD. METHODS: PubMed, Embase, and Science Direct databases were searched for studies that investigated associations of the FokI (rs2228570, rs10735810), and ApaI (rs7975253) polymorphisms of the VDR gene with DD...
January 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27790329/vitamin-d-receptor-gene-matrix-metalloproteinase-3-polymorphisms-and-the-risk-of-intervertebral-disc-degeneration-susceptibility-meta-analysis
#20
REVIEW
Luming Nong, Yongjing Huang, Shujie Zhao, Nanwei Xu
Several studies have evaluated the association between vitamin D receptor, matrix metalloproteinase 3 (MMP-3) polymorphisms and the risk of intervertebral disc degeneration susceptibility. The findings were inconsistent. This meta-analysis aimed to systematically assess the association between vitamin D receptor, MMP-3 polymorphisms and the risk of intervertebral disc degeneration susceptibility. A search of various databases was done covering all papers published until December 31th, 2014. Eight, 4, 3 studies were finally included that addressed the risk of intervertebral disc degeneration susceptibility and vitamin D receptor FokI (rs2228570), ApaI (rs7975232), and MMP-3 (rs731236) polymorphisms, respectively...
October 2016: Asian Spine Journal
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