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https://www.readbyqxmd.com/read/29307778/computational-and-functional-characterization-of-four-snps-in-the-sost-locus-associated-with-osteoporosis
#1
Weiyuan Ye, Ya Wang, Bing Mei, Sasa Hou, Xinhong Liu, Guiju Wu, Longjuan Qin, Kehui Zhao, Qingyang Huang
The SOST gene encodes sclerostin, a C-terminal cysteine knot-like domain containing key negative regulator of osteoblastic bone formation that inhibits LRP5/6-mediated canonical Wnt signaling. Numerous single nucleotide polymorphisms (SNPs) in the SOST locus are firmly associated with bone mineral density (BMD) and fracture in genome-wide association studies (GWAS) and candidate gene association studies. However, the validation and mechanistic elucidation of causal genetic variants, especially for SNPs located beyond the promoter-proximal region, remain largely unresolved...
January 4, 2018: Bone
https://www.readbyqxmd.com/read/29251361/pulsed-electromagnetic-field-improves-subchondral-bone-microstructure-in-knee-osteoarthritis-rats-through-a-wnt-%C3%AE-catenin-signaling-associated-mechanism
#2
Xiaotian Yang, Hongchen He, Qiang Gao, Chengqi He
Pulsed electromagnetic field (PEMF) is often used for management of osteoarthritis (OA). The aim of the study was to determine whether PEMF can successfully improve subchondral bone microstructure through a Wnt/β-catenin signaling-associated pathway in rats with knee OA induced by low-dose monosodium iodoacetate (MIA). Seventy-two 12-week-old male Sprague-Dawley rats were randomly assigned to three groups: OA (n = 24), PEMF (n = 24), and Control (n = 24). OA was induced (OA and PEMF groups) by injecting 0...
December 18, 2017: Bioelectromagnetics
https://www.readbyqxmd.com/read/29244962/expression-of-the-frizzled-receptors-and-their-co-receptors-in-calcified-human-aortic-valves
#3
Ateeque Siddique, Bin Yu, Kashif Khan, Ryan Buyting, Hamood Al-Kindi, Hossny Alaws, Eric Rhéaume, Jean-Claude Tardif, Renzo Cecere, Adel Schwertani
The cellular mechanisms that induce calcific aortic stenosis are yet to be unravelled. Wnt signaling is increasingly being considered as a major player in the disease process. However, the presence of Wnt Frizzled receptors (Fzd) and co-receptors LRP5 and 6 in normal and diseased human aortic valves remains to be elucidated. Immunohistochemistry and qPCR were used to determine Fzd receptor expression in normal and calcified human aortic valve tissue, as well as human aortic valve interstitial cells (HAVICs) isolated from calcified and normal human aortic valves...
December 15, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/29243290/a-non-coding-variant-in-ganab-explains-isolated-polycystic-liver-disease-pcld-in-a-large-family
#4
Whitney Besse, Jungmin Choi, Dina Ahram, Shrikant Mane, Simone Sanna-Cherchi, Vicente Torres, Stefan Somlo
Expanded mutation detection and novel gene discovery for isolated polycystic liver disease (PCLD) are necessary as 50% of cases do not have identified mutations in the seven published disease genes. We investigated a family with 5 affected siblings for which no loss of function variants were identified by whole exome sequencing analysis. SNP genotyping and linkage analysis narrowed the candidate regions to ∼8% of the genome, which included two published PCLD genes in close proximity to each other, GANAB and LRP5...
December 15, 2017: Human Mutation
https://www.readbyqxmd.com/read/29229438/pulsed-electromagnetic-fields-pemf-attenuate-changes-in-vertebral-bone-mass-architecture-and-strength-in-ovariectomized-mice
#5
Tao Lei, Zhuowen Liang, Feijiang Li, Chi Tang, Kangning Xie, Pan Wang, Xu Dong, Shuai Shan, Maogang Jiang, Qiaoling Xu, Erping Luo, Guanghao Shen
Pulsed electromagnetic fields (PEMF) has been investigated as a noninvasive alternative method to prevent bone loss for postmenopausal osteoporosis (OP), and the bone tissue involved in these studies are usually long bones such as femur and tibia in OP patients or rat models. However, few studies have investigated the effects of PEMF on the vertebral bone in mice with OP. This study aimed to investigate whether PEMF preserve lumbar vertebral bone mass, microarchitecture and strength in ovariectomized (OVX) mouse model of OP and its associated mechanisms...
December 8, 2017: Bone
https://www.readbyqxmd.com/read/29208525/novel-familial-mutation-of-lrp5-causing-high-bone-mass-genetic-analysis-clinical-presentation-and-characterization-of-bone-matrix-mineralization
#6
K M Roetzer, G Uyanik, A Brehm, J Zwerina, S Zandieh, T Czech, P Roschger, B M Misof, K Klaushofer
The Wnt signalling pathway is a critical regulator of bone mass and quality. Several heterozygous mutations in the LRP5 gene, a Wnt co-receptor, causing high bone mass (LRP5-HBM) have been described to date. The pathogenic mechanism is thought to be a gain-of-function caused by impaired inhibition of the canonical Wnt signalling pathway, thereby leading to increased bone formation. We report the cases of two affected family members, a 53-year-old mother and her 23-year-old daughter, with high bone mass (T-scores mother: lumbar spine 11...
February 2018: Bone
https://www.readbyqxmd.com/read/29207047/clinical-and-next-generation-sequencing-findings-in-a-chinese-family-exhibiting-severe-familial-exudative-vitreoretinopathy
#7
Ying Lin, Hongbin Gao, Chuan Chen, Yi Zhu, Tao Li, Bingqian Liu, Chenghong Ma, Hongye Jiang, Yonghao Li, Ying Huang, Qingxiu Wu, Haichun Li, Xiaoling Liang, Chenjin Jin, Jianhua Ye, Xinhua Huang, Lin Lu
Familial exudative vitreoretinopathy (FEVR) is a rare hereditary retinal disorder characterized by the premature arrest of vascularization in the peripheral retina. The aim of the present study was to characterize the clinical presentations of a Chinese family affected by bilateral severe FEVR, and to identify the underlying genetic variations. One family that presented with bilateral FEVR was recruited for this study. Comprehensive ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus photography, fundus fluorescein angiography imaging and electroretinogram were performed...
February 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29181528/mutation-spectrum-of-the-lrp5-ndp-and-tspan12-genes-in-chinese-patients-with-familial-exudative-vitreoretinopathy
#8
Miao Tang, Limei Sun, Andina Hu, Miner Yuan, Yu Yang, Xuening Peng, Xiaoyan Ding
Purpose: LRP5, NDP, and TSPAN12 are known to be associated with familial exudative vitreoretinopathy (FEVR). In this study, a comprehensive mutation screening for the three genes was performed in patients with a clinical diagnosis of FEVR in Han Chinese. Methods: Genomic DNA and clinical data were collected from 100 probands and their family members. Sanger sequencing was performed to screen for LRP5, NDP, and TSPAN12 mutations and phenotype-genotype correlation was analyzed...
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29176883/wnt-co-receptors-lrp5-and-lrp6-differentially-mediate-wnt3a-signaling-in-osteoblasts
#9
Aimy Sebastian, Nicholas R Hum, Deepa K Murugesh, Sarah Hatsell, Aris N Economides, Gabriela G Loots
Wnt3a is a major regulator of bone metabolism however, very few of its target genes are known in bone. Wnt3a preferentially signals through transmembrane receptors Frizzled and co-receptors Lrp5/6 to activate the canonical signaling pathway. Previous studies have shown that the canonical Wnt co-receptors Lrp5 and Lrp6 also play an essential role in normal postnatal bone homeostasis, yet, very little is known about specific contributions by these co-receptors in Wnt3a-dependent signaling. We used high-throughput sequencing technology to identify target genes regulated by Wnt3a in osteoblasts and to elucidate the role of Lrp5 and Lrp6 in mediating Wnt3a signaling...
2017: PloS One
https://www.readbyqxmd.com/read/29159713/tmem88-mediates-inflammatory-cytokines-secretion-by-regulating-jnk-p38-and-canonical-wnt-%C3%AE-catenin-signaling-pathway-in-lx-2-cells
#10
Tao Xu, Lin-Xin Pan, Yun-Xuan Ge, Peng Li, Xiao-Ming Meng, Cheng Huang, Jun Li
Recent data have shown that Transmembrane protein 88 (TMEM88), a newly discovered protein localized on the cell membrane, interacts with the PDZ domain of disheveled-1 (Dvl-1) in Xenopus embryos. Indeed, TMEM88 might inhibit the canonical Wnt/β-catenin signaling pathway by competing with LRP5/6 for interaction with Dvl-1. TMEM88 plays a crucial role in regulating human stem cell differentiation and embryonic development. Until recently, the function of TMEM88 has been a matter of debate. In this study, we explore the role of TMEM88 in cytokine secretion and the role of the MAPK and Wnt/β-catenin signaling pathway in tumor necrosis factor-alpha (TNF-α)-induced TMEM88 expression in LX-2 cells...
November 20, 2017: Inflammopharmacology
https://www.readbyqxmd.com/read/29154852/the-mitochondrial-uncoupling-protein-2-gene-is-causal-for-the-spontaneous-polycystic-liver-diseases-in-mice
#11
Misa Hirose, Paul Schilf, Sarah Rohde, Yask Gupta, Tiphaine Sancerni, Marie-Clotilde Alves-Guerra, Christian Sina, Robert Jaster, Bruno Miroux, Saleh M Ibrahim
Polycystic liver diseases (PCLDs) are autosomal dominant disorders. To date, 3 genes are known to be associated with the disease, SEC63 and PRKCSH and LRP5. Here, we report that mice deficient in the mitochondrial uncoupling protein 2 gene (Ucp2(-/-)) spontaneously developed PCLDs when they were over 12months old. Macroscopical observation, blood chemistry as well as histopathological analysis demonstrated the PCLDs found in Ucp2(-/-) mice were very similar to the findings in human PCLDs. This is the first report describing the gene encoding mitochondrial protein is causative for PCLDs...
November 14, 2017: Mitochondrion
https://www.readbyqxmd.com/read/29154126/the-wnt-inhibitor-apcdd1-coordinates-vascular-remodeling-and-barrier-maturation-of-retinal-blood-vessels
#12
Jenna Mazzoni, Julian R Smith, Sanjid Shahriar, Tyler Cutforth, Bernardo Ceja, Dritan Agalliu
Coordinating angiogenesis with acquisition of tissue-specific properties in endothelial cells is essential for vascular function. In the retina, endothelial cells form a blood-retina barrier by virtue of tight junctions and low transcytosis. While the canonical Norrin/Fz4/Lrp5/6 pathway is essential for angiogenesis, vascular remodeling, and barrier maturation, how these diverse processes are coordinated remains poorly understood. Here we demonstrate that Apcdd1, a negative regulator of Wnt/β-catenin signaling, is expressed in retinal endothelial cells during angiogenesis and barrier formation...
November 4, 2017: Neuron
https://www.readbyqxmd.com/read/29131652/novel-homozygous-lrp5-mutations-in-mexican-patients-with-osteoporosis-pseudoglioma-syndrome
#13
Mirena C Astiazarán, María Cervantes-Sodi, Erick Rebolledo-Enríquez, Oscar Chacón-Camacho, Vanessa Villegas, Juan Carlos Zenteno
AIMS: Osteoporosis-pseudoglioma syndrome (OPPG) is an uncommon autosomal recessive disorder characterized by the rare association of early-onset osteoporosis and severe ocular abnormalities such as persistent fetal vasculature and microphthalmia. Biallelic mutations in the low-density lipoprotein receptor-related protein-5 gene (LRP5) have been associated with OPPG. We present clinical and genetic data of three Mexican OPPG patients, a pair of sibs, and a sporadic case. MATERIALS AND METHODS: Three patients underwent clinical examination, including a complete ophthalmic evaluation...
November 13, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29123202/potential-damaging-mutation-in-lrp5-from-genome-sequencing-of-the-first-reported-chimpanzee-with-the-chiari-malformation
#14
Manuel Solis-Moruno, Marc de Manuel, Jessica Hernandez-Rodriguez, Claudia Fontsere, Alba Gomara-Castaño, Cristina Valsera-Naranjo, Dietmar Crailsheim, Arcadi Navarro, Miquel Llorente, Laura Riera, Olga Feliu-Olleta, Tomas Marques-Bonet
The genus Pan is the closest related to humans (Homo sapiens) and it includes two species: Pan troglodytes (chimpanzees) and Pan paniscus (bonobos). Different characteristics, some of biomedical aspect, separate them from us. For instance, some common human medical conditions are rare in chimpanzees (menopause, Alzheimer disease) although it is unclear to which extent longevity plays an active role in these differences. However, both humans and chimpanzees present similar pathologies, thus, understanding traits in chimpanzees can help unravel the molecular basis of human conditions...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29123193/characterization-of-mammary-specific-disruptions-for-tph1-and-lrp5-during-murine-lactation
#15
Samantha R Weaver, Nicholas J Jury, Karen A Gregerson, Nelson D Horseman, Laura L Hernandez
Serotonin is a homeostatic regulator of the mammary gland during lactation. The contribution of mammary-derived serotonin to circulating serum serotonin concentrations was previously unknown. We have developed mice with mammary-specific disruptions of tryptophan hydroxylase 1 (Tph1) or low-density lipoprotein receptor-related protein 5 (Lrp5) that are induced during late pregnancy and lactation via use of the whey acidic protein (WAP)-Cre cre-lox system. Our objective was to characterize dams with a lactation- and mammary-specific disruption of Lrp5 (WAP-Cre × Lrp5 (FL/FL)) or Tph1 (WAP-Cre × Tph1 (FL/FL))...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29107218/dual-targeting-wnt-and-upa-receptors-using-peptide-conjugated-ultra-small-nanoparticle-drug-carriers-inhibited-cancer-stem-cell-phenotype-in-chemo-resistant-breast-cancer
#16
Jasmine Miller-Kleinhenz, Xiangxue Guo, Weiping Qian, Hongyu Zhou, Erica N Bozeman, Lei Zhu, Xin Ji, Y Andrew Wang, Toncred Styblo, Ruth O'Regan, Hui Mao, Lily Yang
Heterogeneous tumor cells, high incidence of tumor recurrence, and decrease in overall survival are the major challenges for the treatment of chemo-resistant breast cancer. Results of our study showed differential chemotherapeutic responses among breast cancer patient derived xenograft (PDX) tumors established from the same patients. All doxorubicin(Dox)-resistant tumors expressed higher level of cancer stem-like cell biomarkers, including CD44, Wnt and its receptor LRP5/6, relative to Dox-sensitive tumors...
October 21, 2017: Biomaterials
https://www.readbyqxmd.com/read/29102319/wnt-signaling-pathway-correlates-with-ossification-of-the-spinal-ligament-a-microrna-array-and-immunohistochemical-study
#17
Takafumi Yayama, Kanji Mori, Noriaki Okumura, Kazuya Nishizawa, Kosuke Kumagai, Akira Nakamura, Shinji Imai
BACKGROUND: Ossification of the posterior longitudinal ligament or the ligamentum flavum parallels endochondral ossification. Cell differentiation at the ossification front is known to be important during this process, although the factors regulating its initiation and progression are still unclear. The purpose of this study was to identify factors important for the regulation of chondrocyte/osteoblast differentiation during spinal ossification. METHODS: Ligamentum flavum tissue was isolated from 25 patients who underwent decompressive surgery for cervical ossification of the posterior longitudinal ligament...
October 25, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/29077850/%C3%AE-catenin-directs-long-chain-fatty-acid-catabolism-in-the-osteoblasts-of-male-mice
#18
Julie L Frey, Soohyun P Kim, Zhu Li, Michael J Wolfgang, Ryan C Riddle
Wnt-initiated signaling through a frizzled receptor and the low-density lipoprotein related receptor-5 (Lrp5) co-receptor instructs key anabolic events during skeletal development, homeostasis, and repair. Recent studies indicate that Wnt signaling also regulates the intermediary metabolism of osteoblastic cells, inducing glucose consumption in osteoprogenitors and fatty acid utilization in mature osteoblasts. In this study, we examined the role of the canonical Wnt-signaling target, β-catenin, in the control of osteoblast metabolism...
October 25, 2017: Endocrinology
https://www.readbyqxmd.com/read/29038835/interaction-between-lrp5-and-periostin-gene-polymorphisms-on-serum-periostin-levels-and-cortical-bone-microstructure
#19
J Pepe, N Bonnet, F R Herrmann, E Biver, R Rizzoli, T Chevalley, S L Ferrari
We investigated the interaction between periostin SNPs and the SNPs of the genes assumed to modulate serum periostin levels and bone microstructure in a cohort of postmenopausal women. We identified an interaction between LRP5 SNP rs648438 and periostin SNP rs9547970 on serum periostin levels and on radial cortical porosity. PURPOSE: The purpose of this study is to investigate the interaction between periostin gene polymorphisms (SNPs) and other genes potentially responsible for modulating serum periostin levels and bone microstructure in a cohort of postmenopausal women...
October 16, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/29038287/genetic-complexity-of-autosomal-dominant-polycystic-kidney-and-liver-diseases
#20
Emilie Cornec-Le Gall, Vicente E Torres, Peter C Harris
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidney diseases (ADPKD), a significant cause of ESRD, and autosomal dominant polycystic liver diseases (ADPLD), which result in significant PLD with minimal PKD. Eight genes have been associated with ADPKD (PKD1 and PKD2), ADPLD (PRKCSH, SEC63, LRP5, ALG8, and SEC61B), or both (GANAB). Although genetics is only infrequently used for diagnosing these diseases and prognosing the associated outcomes, its value is beginning to be appreciated, and the genomics revolution promises more reliable and less expensive molecular diagnostic tools for these diseases...
January 2018: Journal of the American Society of Nephrology: JASN
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