keyword
https://read.qxmd.com/read/38397060/genetic-landscape-of-factor-vii-deficiency-insights-from-a-comprehensive-analysis-of-pathogenic-variants-and-their-impact-on-coagulation-activity
#41
JOURNAL ARTICLE
Barbara Preisler, Behnaz Pezeshkpoor, Anja Merzenich, Sandra Ohlenforst, Heiko Rühl, Vytautas Ivaškevičius, Ute Scholz, Hagen Bönigk, Wolfgang Eberl, Barbara Zieger, Anna Pavlova, Johannes Oldenburg
Congenital factor VII (FVII) deficiency is a rare genetic bleeding disorder characterized by deficient or reduced activity of coagulation FVII. It is caused by genetic variants in the F7 gene. We aimed to evaluate the rate of detection of pathogenic variants in the F7 gene in a large group of patients with FVII deficiency and investigate the correlations between the F7 genotype and FVII activity (FVII:C). Moreover, the influence of the common genetic variant rs6046: c.1238G>A; p.(Arg413Gln), designated as the M2 allele, on FVII:C was investigated...
February 17, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38396960/roles-of-glutathione-and-ap-1-in-the-enhancement-of-vitamin-d-induced-differentiation-by-activators-of-the-nrf2-signaling-pathway-in-acute-myeloid-leukemia-cells
#42
JOURNAL ARTICLE
Yasmeen Jramne-Saleem, Michael Danilenko
Active vitamin D derivatives (VDDs)-1α,25-dihydroxyvitamin D3 /D2 and their synthetic analogs-are well-known inducers of cell maturation with the potential for differentiation therapy of acute myeloid leukemia (AML). However, their dose-limiting calcemic activity is a significant obstacle to using VDDs as an anticancer treatment. We have shown that different activators of the NF-E2-related factor-2/Antioxidant Response Element (Nrf2/ARE) signaling pathway, such as the phenolic antioxidant carnosic acid (CA) or the multiple sclerosis drug monomethyl fumarate (MMF), synergistically enhance the antileukemic effects of various VDDs applied at low concentrations in vitro and in vivo...
February 14, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38396228/vitamin-d3-improves-iminodipropionitrile-induced-tic-like-behavior-in-rats-through-regulation-of-gdnf-c-ret-signaling-activity
#43
JOURNAL ARTICLE
Hong-Hua Li, Xi-Fei Wang, Bing Wang, Fei-Yong Jia
Children with chronic tic disorders (CTD), including Tourette syndrome (TS), have significantly reduced serum 25-hydroxyvitamin D [25(OH)D]. While vitamin D3 supplementation (VDS) may reduce tic symptoms in these children, its mechanism is unclear. The study aim was to investigate the effects and mechanisms of vitamin D deficiency (VDD) and VDS on TS model behavior. Forty 5-week-old male Sprague-Dawley rats were randomly divided into (n = 10 each): control, TS model, TS model with VDD (TS + VDD), or TS model with VDS (TS + VDS; two intramuscular injections of 20,000 IU/200 g) groups...
February 23, 2024: European Child & Adolescent Psychiatry
https://read.qxmd.com/read/38395181/gui-shenwan-prevent-premature-ovarian-insufficiency-by-modulating-autophagy-and-angiogenesis-via-facilitating-vdr
#44
JOURNAL ARTICLE
Minfeng Zhou, Huifang Niu, Rui Chen, Wenmao Chen, Dandan Cui
ETHNOPHARMACOLOGICAL RELEVANCE: Gui Shen Wan (GSW) stands out as a promising therapeutic approach for addressing Premature Ovarian Insufficiency (POI). With deep roots in traditional medicine, GSW highlights the ethnopharmacological significance of herbal interventions in addressing nuanced aspects of women's health, with a specific emphasis on ovarian functionality. Recognizing the importance of GSW in gynecological contexts resonates with a rich tradition of using botanical formulations to navigate the intricacies of reproductive health...
February 21, 2024: Journal of Ethnopharmacology
https://read.qxmd.com/read/38389573/mitochondrial-related-hub-genes-in-dermatomyositis-muscle-and-skin-datasets-based-identification-and-in-vivo-validation
#45
JOURNAL ARTICLE
Shuo Wang, Yiping Tang, Xixi Chen, Siyuan Song, Xi Chen, Qiao Zhou, Li Zeng
Background: Mitochondrial dysfunction has been implicated in the pathogenesis of dermatomyositis (DM), a rare autoimmune disease affecting the skin and muscles. However, the genetic basis underlying dysfunctional mitochondria and the development of DM remains incomplete. Methods: The datasets of DM muscle and skin tissues were retrieved from the Gene Expression Omnibus database. The mitochondrial related genes (MRGs) were retrieved from MitoCarta. DM-related modules in muscle and skin tissues were identified with the analysis of weighted gene co-expression network (WGCNA), and then compared with the MRGs to obtain the overlapping mitochondrial related module genes (mito-MGs)...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38381779/vitamin-d-and-follicular-recruitment-in-the-in-vitro-fertilization-cycle
#46
JOURNAL ARTICLE
Roberto de A Antunes, Brenda M L de Melo, Maria do Carmo B de Souza, Marcelo M de Souza, Gabriela P S Melo, Thamires F M Jandre, Ana Cristina A Mancebo, Flavia L Conceição, Tania M Ortiga-Carvalho
OBJECTIVE: Vitamin D (VD) is a fat-soluble steroid hormone, synthesized by the skin, most known for its role in bone mineral balance. Vitamin D receptors (VDR) are also found in the female reproductive system, but their role remains unclear. The objective of this study was to analyze the relationship between serum vitamin D levels and the number of oocytes retrieved after ovarian stimulation. METHODS: This is a retrospective study involving 267 patients undergoing in vitro fertilization (IVF) carried out in the Fertipraxis clinic, a private practice facility...
February 21, 2024: JBRA Assisted Reproduction
https://read.qxmd.com/read/38365463/vitamin-d-deficiency-or-resistance-and-hypophosphatemia
#47
REVIEW
Vijaya Sarathi, Melkunte Shanthaiah Dhananjaya, Manjiri Karlekar, Anurag Ranjan Lila
Vitamin D is mainly produced in the skin (cholecalciferol) by sun exposure while a fraction of it is obtained from dietary sources (ergocalciferol). Vitamin D is further processed to 25-hydroxyvitamin D and 1,25-dihydroxy vitamin D (calcitriol) in the liver and kidneys, respectively. Calcitriol is the active form which mediates the actions of vitamin D via vitamin D receptor (VDR) which is present ubiquitously. Defect at any level in this pathway leads to vitamin D deficient or resistant rickets. Nutritional vitamin D deficiency is the leading cause of rickets and osteomalacia worldwide and responds well to vitamin D supplementation...
March 2024: Best Practice & Research. Clinical Endocrinology & Metabolism
https://read.qxmd.com/read/38362511/emerging-role-of-vitamin-d-3-in-alleviating-intestinal-structure-injury-caused-by-aeromonas-hydrophila-in-grass-carp-ctenopharyngodon-idella
#48
JOURNAL ARTICLE
Yao Zhang, Xiao-Qiu Zhou, Wei-Dan Jiang, Pei Wu, Yang Liu, Hong-Mei Ren, Lu Zhang, Hai-Feng Mi, Ling Tang, Cheng-Bo Zhong, Lin Feng
Bacterial pathogens destroy the structural integrity of functional organs in fish, leading to severe challenges in the aquaculture industry. Vitamin D3 (VD3 ) prevents bacterial infections and strengthens immune system function via vitamin D receptor (VDR). However, the correlation between VD3 /VDR and the structural integrity of functional organs remains unclarified. This study aimed to investigate the influence of VD3 supplementation on histological characteristics, apoptosis, and tight junction characteristics in fish intestine during pathogen infection...
March 2024: Animal Nutrition
https://read.qxmd.com/read/38353502/relationship-in-development-of-malocclusions-to-polymorphisms-of-selected-vitamin-d-receptors
#49
JOURNAL ARTICLE
Marzena Dominiak, Anna Leszczyszyn, Izabela Łaczmańska, Monika Machoy, Hanna Gerber, Joseph Choukroun, Tomasz Gedrange, Sylwia Hnitecka
BACKGROUND: The development of malocclusion is related to various factor, many of which are still not fully explained. The steroid hormone, 1,25-dihydroxyvitamin D3, has pleiotropic effects. It plays a key role in skeletal metabolism and the control of cell repair by attaching to the nuclear vitamin D steroid receptor (VDR). This vitamin affects bone turnover through the processes of bone tissue formation and resorption via its action on cells of the osteoblastic and osteoclastic lineage, exerts a modulating effect on the immune system, and is involved in the regulation of cell proliferation and differentiation...
February 14, 2024: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://read.qxmd.com/read/38352211/1-25-dihydroxyvitamin-d-3-affects-thapsigargin-induced-endoplasmic-reticulum-stress-in-3t3-l1-adipocytes
#50
JOURNAL ARTICLE
Dain Wi, Chan Yoon Park
BACKGROUND/OBJECTIVES: Endoplasmic reticulum (ER) stress in adipose tissue causes an inflammatory response and leads to metabolic diseases. However, the association between vitamin D and adipose ER stress remains poorly understood. In this study, we investigated whether 1,25-dihydroxyvitamin D3 (1,25(OH)2 D3 ) alleviates ER stress in adipocytes. MATERIALS/METHODS: 3T3-L1 cells were treated with different concentrations (i.e., 10-100 nM) of 1,25(OH)2 D3 after or during differentiation (i...
February 2024: Nutrition Research and Practice
https://read.qxmd.com/read/38351438/potential-interplay-between-tumor-size-and-vitamin-d-receptor-vdr-polymorphisms-in-breast-cancer-prognosis-a-prospective-cohort-study
#51
JOURNAL ARTICLE
Hampus Lindgren, David Ademi, Christopher Godina, Helga Tryggvadottir, Karolin Isaksson, Helena Jernström
PURPOSE: Vitamin D has some anticancer properties that may decrease breast cancer risk and improve prognosis. The aim was to investigate associations between four previously studied VDR SNPs (Taq1, Tru91, Bsm1, and Fok1) and prognosis in different groups of breast cancer patients. METHODS: VDR genotyping of 1,017 breast cancer patients included 2002-2012 in Lund, Sweden, was performed using Oncoarray. Follow-up was until June 30, 2019. Clinical data and patient information were collected from medical records and questionnaires...
February 14, 2024: Cancer Causes & Control: CCC
https://read.qxmd.com/read/38348498/clinical-and-genetic-determinants-of-vitamin-d-receptor-expression-in-cutaneous-melanoma-patients
#52
JOURNAL ARTICLE
Julie De Smedt, Claudia Aura, Sofie Van Kelst, Laudine Janssen, Vivien Marasigan, Veerle Boecxstaens, Marguerite Stas, Kris Bogaerts, Ann Belmans, Isabelle Cleynen, Dirk Vanderschueren, Katleen Vandenberghe, Oliver Bechter, Arjen Nikkels, Tinne Strobbe, Gabriella Emri, Dieter Lambrechts, Marjan Garmyn
Decrease of vitamin D receptor (VDR) expression is observed in melanocytic naevi and melanoma compared to normal skin. Little is known about factors influencing VDR expression in cutaneous melanoma (CM). We investigated the correlation of VDR expression in CM with 25-hydroxy vitamin D (25OHD) levels, demographic/clinical parameters, genetic variants of VDR and pathology of the primary tumor. Demographic/clinical parameters were recorded in 407 prospectively recruited CM patients of a multi-center controlled study (ViDMe trial)...
February 13, 2024: Melanoma Research
https://read.qxmd.com/read/38346204/evidence-supports-a-causal-association-between-allele-specific-vitamin-d-receptor-binding-and-multiple-sclerosis-among-europeans
#53
JOURNAL ARTICLE
Cameron Adams, Ali Manouchehrinia, Hong L Quach, Diana L Quach, Tomas Olsson, Ingrid Kockum, Catherine Schaefer, Chris P Ponting, Lars Alfredsson, Lisa F Barcellos
Although evidence exists for a causal association between 25-hydroxyvitamin D (25(OH)D) serum levels, and multiple sclerosis (MS), the role of variation in vitamin D receptor (VDR) binding in MS is unknown. Here, we leveraged previously identified variants associated with allele imbalance in VDR binding (VDR-binding variant; VDR-BV) in ChIP-exo data from calcitriol-stimulated lymphoblastoid cell lines and 25(OH)D serum levels from genome-wide association studies to construct genetic instrumental variables (GIVs)...
February 20, 2024: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/38339924/relationship-between-vitamin-d-receptor-genotypes-fok1rs2228570-and-il18-gene-expression-in-sample-of-multiple-sclerosis-iraqi-patients
#54
JOURNAL ARTICLE
Zahraa Kadhim Lafi And, Bushra Jasim Mohammed
BACKGROUND: Multiple Sclerosis Known as MS, this chronic inflammatory demyelinating condition affects the nervous system. It is a heterogenic and multifactorial disease. The goal of the current study was to investigate the relationship between MS patients' IL18 gene expression and the vitamin D receptor gene polymorphism (FOK1rs2228570). OBJECTIVE: The aim of the study to investigate the association of Vitamin D receptor (FOK1rs2228570) gene Polymorphism and pro inflammatory cytokine (IL18) gene expression among multiple sclerosis Iraqi Patients...
January 20, 2024: Human Antibodies
https://read.qxmd.com/read/38339221/genetic-diversity-in-bronchial-asthma-susceptibility-exploring-the-role-of-vitamin-d-receptor-gene-polymorphisms-in-varied-geographic-contexts
#55
JOURNAL ARTICLE
Natalia Paramonova, Ilva Trapina, Brigita Gradauskiene Sitkauskiene, Samanta Plavina, Laura Tamasauskiene, Daina Bastyte, Ingrida Rumba-Rozenfelde, Sandra Tapina, Ieva Stakaitiene, Rasa Ugenskiene, Lawrence Shih-Hsin Wu, Jiu-Yao Wang, Miao-Hsi Hsieh, Pei-Chi Chen, Nikolajs Sjakste
Bronchial asthma (BA) exhibits varying prevalence across global populations, prompting a comprehensive investigation into genetic and environmental determinants. Vitamin D is a potent immunomodulator capable of suppressing inflammatory signals in several cell types involved in the asthmatic response; it exerts effects on the immune system by binding to the nuclear vitamin D receptor (VDR). VDR gene genetic variations are affecting serum vitamin D levels with a possible role in the BA risk. The current study aimed to examine the complex interaction of various factors (genetic background, serum vitamin D levels, and geographic location) to identify differences in the influence of these factors on the susceptibility to asthma between populations at different latitudes...
February 5, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38337682/vitamin-d-and-aging-central-role-of-immunocompetence
#56
REVIEW
Carsten Carlberg, Eunike Velleuer
The pro-hormone vitamin D3 is an important modulator of both innate and adaptive immunity since its biologically active metabolite 1α,25-dihydroxyvitamin D3 (1,25(OH)2 D3 ) regulates via the transcription factor VDR (vitamin D receptor) the epigenome and transcriptome of human immune cells and controls in this way the expression of hundreds of vitamin D target genes. Since the myeloid linage of hematopoiesis is epigenetically programmed by VDR in concert with the pioneer factors PU.1 (purine-rich box 1) and CEBPα (CCAAT/enhancer binding protein α), monocytes, macrophages, and dendritic cells are the most vitamin D-sensitive immune cell types...
January 30, 2024: Nutrients
https://read.qxmd.com/read/38334631/novel-vitamin-d3-hydroxymetabolites-require-involvement-of-the-vitamin-d-receptor-or-retinoic-acid-related-orphan-receptors-for-their-antifibrogenic-activities-in-human-fibroblasts
#57
JOURNAL ARTICLE
Zorica Janjetovic, Shariq Qayyum, Sivani B Reddy, Ewa Podgorska, S Gates Scott, Justyna Szpotan, Alisa A Mobley, Wei Li, Vijay K Boda, Senthilkumar Ravichandran, Robert C Tuckey, Anton M Jetten, Andrzej T Slominski
We investigated multiple signaling pathways activated by CYP11A1-derived vitamin D3 hydroxymetabolites in human skin fibroblasts by assessing the actions of these molecules on their cognate receptors and by investigating the role of CYP27B1 in their biological activities. The actions of 20(OH)D3, 20,23(OH)2 D3, 1,20(OH)2 D3 and 1,20,23(OH)3 D3 were compared to those of classical 1,25(OH)2 D3. This was undertaken using wild type (WT) fibroblasts, as well as cells with VDR , RORs , or CYP27B1 genes knocked down with siRNA...
January 26, 2024: Cells
https://read.qxmd.com/read/38327594/association-between-serum-level-of-vitamin-d-25-hydroxyvitamin-d-and-plasma-level-of-vitamin-d-receptor-with-bacteriological-index-in-leprosy-patients
#58
JOURNAL ARTICLE
Rizka Farah Hilma, Sandra Widaty, Melani Marissa, Muhammad Ilyas
Macrophages respond against Mycobacterium leprae infection through interacting with vitamin D and vitamin D receptor (VDR). There has been no study analyzing the association between vitamin D and VDR with bacteriological index (BI) in leprosy patients in Indonesia. To analyze the serum level of 25- hydroxyvitamin D (25(OH)D) and plasma level of VDR as well as their association with BI in leprosy patients in Indonesia. This is a cross-sectional study. Serum level of 25(OH)D was assessed with in vitro chemiluminescent immunoassay...
December 1, 2023: Dermatology Reports
https://read.qxmd.com/read/38323352/bmp6-and-vdr-gene-polymorphisms-are-associated-with-osteonecrosis-in-a-sickle-cell-anaemia-cohort
#59
JOURNAL ARTICLE
Gabriela S Arcanjo, Mariana B Souza, Igor F Domingos, Diego A Pereira-Martins, Diego A Falcão, Jessica V Batista, Betania L Hatzlhofer, Madi V Diniz, Alexsandro P Silva, Werbson L Guaraná, Manuela F Hazin, Aderson S Araujo, Anderson F Cunha, Sara O Saad, Fernando F Costa, Antonio R Lucena-Araujo, Marcos André C Bezerra
The occurrence and severity of osteonecrosis in sickle cell anaemia (SCA) vary due to risk factors, including genetic modifiers. Bone morphogenetic proteins (BMPs), particularly BMP6, and the vitamin D receptor (VDR) play key roles in cartilage and bone metabolism, making them potential contributors to orthopaedic outcomes in SCA. Here, we evaluated the association of polymorphisms in BMP6 (rs3812163, rs270393 and rs449853) and VDR (FokI rs2228570 and Cdx2 rs11568820) genes with osteonecrosis risk in a Brazilian SCA cohort...
February 7, 2024: British Journal of Haematology
https://read.qxmd.com/read/38320454/vdr-regulates-mitochondrial-function-as-a-protective-mechanism-against-renal-tubular-cell-injury-in-diabetic-rats
#60
JOURNAL ARTICLE
Hong Chen, Hao Zhang, Ai-Mei Li, Yu-Ting Liu, Yan Liu, Wei Zhang, Cheng Yang, Na Song, Ming Zhan, Shikun Yang
PURPOSE: To investigate the regulatory effect and mechanism of Vitamin D receptor (VDR) on mitochondrial function in renal tubular epithelial cell under diabetic status. METHODS: The diabetic rats induced by streptozotocin (STZ) and HK-2 cells under high glocose(HG)/transforming growth factor beta (TGF-β) stimulation were used in this study. Calcitriol was administered for 24 weeks. Renal tubulointerstitial injury and some parameters of mitochondrial function including mitophagy, mitochondrial fission, mitochondrial ROS, mitochondrial membrane potential (MMP), mitochondrial ATP, Complex V activity and mitochondria-associated ER membranes (MAMs) integrity were examined...
April 2024: Redox Biology
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