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https://www.readbyqxmd.com/read/28893644/high-bone-mass-due-to-novel-lrp5-and-amer1-mutations
#1
Alice Costantini, Päivi Kekäläinen, Riikka E Mäkitie, Outi Mäkitie
WNT signaling is a key regulator of bone metabolism and its increased or decreased activity leads to skeletal disorders. Here we describe two patients with high bone mass (HBM) caused by novel mutations in two different WNT pathway components. The first patient is a 53-year-old male with HBM. He was diagnosed at adult age based on significantly increased bone mineral density (BMD). He has undergone several surgeries due to excessive bone in ear canals, bilateral jaw exostoses and mandibular tori. Radiographs show severe cortical thickening of cranial and long bones...
September 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28891484/variable-expressivity-and-response-to-bisphosphonate-therapy-in-a-family-with-osteoporosis-pseudoglioma-syndrome
#2
Karthik B Tallapaka, Prajnya Ranganath, Ashwin Dalal
BACKGROUND: Osteoporosis pseudoglioma syndrome (OPPGS) is a rare autosomal recessive genetic disorder characterised by congenital blindness and osteoporosis, caused by biallelic mutations in the LRP5 gene. CASE CHARACTERISTICS: A consanguineous family with four OPPGS-affected members with variable expressivity. OBSERVATION: A novel homozygous missense pathogenic variant (c.3709C>T) was identified in the LRP5 gene. Good response to biphosphonate therapy was observed in all affected members...
August 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28879758/light-controlled-bmsc-sheet-implant-complexes-with-improved-osteogenesis-via-an-lrp5-%C3%AE-catenin-runx2-regulatory-loop
#3
Zhiwei Jiang, Huiming Wang, Ke Yu, Yuting Feng, Ying Wang, Tingben Huang, Kaichen Lai, Yue Xi, Guoli Yang
The combination of bone marrow mesenchymal stem cell (BMSC) sheets and titanium implants (BMSC sheet-implant complexes) can accelerate osseointegration. However, methods of fabricating BMSC sheet-implant complexes are quite limited, and the survival of BMSC sheet-implant complexes is one of the key barriers. Here, we show that a light-controlled fabricating system can generate less injured BMSC sheet-implant complexes with improved viability and osteogenesis, and non-invasive monitoring of viability of BMSC sheet-implant complexes using lentiviral delivery system is feasible...
September 7, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28867931/targeted-next-generation-sequencing-analysis-identifies-novel-mutations-in-families-with-severe-familial-exudative-vitreoretinopathy
#4
Xiao-Yan Huang, Hong Zhuang, Ji-Hong Wu, Jian-Kang Li, Fang-Yuan Hu, Yu Zheng, Laurent Christian Asker M Tellier, Sheng-Hai Zhang, Feng-Juan Gao, Jian-Guo Zhang, Ge-Zhi Xu
PURPOSE: Familial exudative vitreoretinopathy (FEVR) is a genetically and clinically heterogeneous disease, characterized by failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the two eyes of a given patient. This study was designed to identify the genetic defect in a patient cohort of ten Chinese families with a definitive diagnosis of FEVR. METHODS: To identify the causative gene, next-generation sequencing (NGS)-based target capture sequencing was performed...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28866852/clinical-and-biochemical-response-to-neridronate-treatment-in-a-patient-with-osteoporosis-pseudoglioma-syndrome-oppg
#5
M Celli, P D'Eufemia, P Persiani, A Turchetti, A Febbo, Y D'Alfonso, L Celli, A Zambrano
Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation. Treatment with bisphosphonates, particularly with pamidronate and risedronate, has been reported to be of some efficacy in this condition. We report on a patient with OPPG due to an LRP5 gene mutation, who showed an encouraging response after a 36-month period of neridronate therapy...
September 2, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28846685/myeloid-wnt-ligands-are-required-for-normal-development-of-dermal-lymphatic-vasculature
#6
Ajit Muley, Yoshi Odaka, Ian P Lewkowich, Shruti Vemaraju, Terry P Yamaguchi, Carrie Shawber, Belinda H Dickie, Richard A Lang
Resident tissue myeloid cells play a role in many aspects of physiology including development of the vascular systems. In the blood vasculature, myeloid cells use VEGFC to promote angiogenesis and can use Wnt ligands to control vascular branching and to promote vascular regression. Here we show that myeloid cells also regulate development of the dermal lymphatic vasculature using Wnt ligands. Using myeloid-specific deletion of the WNT transporter Wntless we show that myeloid Wnt ligands are active at two distinct stages of development of the dermal lymphatics...
2017: PloS One
https://www.readbyqxmd.com/read/28782656/genetics-and-mechanisms-of-hepatic-cystogenesis
#7
REVIEW
L F M van de Laarschot, J P H Drenth
Polycystic liver disease (PLD) is a heterogeneous genetic condition. PKD1 and PKD2 germline mutations are found in patients with autosomal dominant polycystic kidney disease (ADPKD). Autosomal dominant polycystic liver disease (ADPLD) is associated with germline mutations in PRKCSH, SEC63, LRP5, and recently ALG8, and SEC61. GANAB mutations are found in both patient groups. Loss of heterozygosity of PLD-genes in cyst epithelium contributes to the development of hepatic cysts. A genetic interaction network is implied in hepatic cystogenesis that connects the endoplasmic glycoprotein control mechanisms and polycystin expression and localization...
August 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28761148/membrane-targeting-of-disheveled-can-bypass-the-need-for-arrow-lrp5
#8
Prameet Kaur, Vanessa Yuk Man Lam, Anirudh Gautam Mannava, Jahnavi Suresh, Andreas Jenny, Nicholas S Tolwinski
The highly conserved Wnt signaling pathway regulates cell proliferation and differentiation in vertebrates and invertebrates. Upon binding of a Wnt ligand to a receptor of the Fz family, Disheveled (Dsh/Dvl) transduces the signal during canonical and non-canonical Wnt signaling. The specific details of how this process occurs have proven difficult to study, especially as Dsh appears to function as a switch between different branches of Wnt signaling. Here we focus on the membrane-proximal events that occur once Dsh is recruited to the membrane...
July 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28758032/genotype-phenotype-characterization-of-novel-variants-in-six-italian-patients-with-familial-exudative-vitreoretinopathy
#9
Giancarlo Iarossi, Matteo Bertelli, Paolo Enrico Maltese, Elena Gusson, Giorgio Marchini, Alice Bruson, Sabrina Benedetti, Sabrina Volpetti, Gino Catena, Luca Buzzonetti, Lucia Ziccardi
Familial exudative vitreoretinopathy (FEVR) is a complex disorder characterized by incomplete development of the retinal vasculature. Here, we report the results obtained on the spectrum of genetic variations and correlated phenotypes found in a cohort of Italian FEVR patients. Eight probands (age range 7-19 years) were assessed by genetic analysis and comprehensive age-appropriate ophthalmic examination. Genetic testing investigated the genes most widely associated in literature with FEVR: FZD4, LRP5, TSPAN12, and NDP...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28752891/inhibition-of-nuclear-wnt-signaling-challenges-of-an-elusive-target-for-cancer-therapy
#10
REVIEW
Yung Lyou, Amber N Habowski, George T Chen, Marian L Waterman
The highly conserved Wnt signaling pathway plays an important role in embryonic development and disease pathogenesis, most notably cancer. The "canonical," or β-catenin-dependent Wnt signal initiates at the cell plasma membrane with the binding of Wnt proteins to Frizzled:LRP5/LRP6 receptor complexes, and is mediated by the translocation of the transcription co-activator protein, β-catenin, into the nucleus. β-catenin then forms a complex with TCF/LEF transcription factors to regulate multiple gene programs...
July 28, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28743860/bivariate-genome-wide-association-meta-analysis-of-pediatric-musculoskeletal-traits-reveals-pleiotropic-effects-at-the-srebf1-tom1l2-locus
#11
Carolina Medina-Gomez, John P Kemp, Niki L Dimou, Eskil Kreiner, Alessandra Chesi, Babette S Zemel, Klaus Bønnelykke, Cindy G Boer, Tarunveer S Ahluwalia, Hans Bisgaard, Evangelos Evangelou, Denise H M Heppe, Lynda F Bonewald, Jeffrey P Gorski, Mohsen Ghanbari, Serkalem Demissie, Gustavo Duque, Matthew T Maurano, Douglas P Kiel, Yi-Hsiang Hsu, Bram C J van der Eerden, Cheryl Ackert-Bicknell, Sjur Reppe, Kaare M Gautvik, Truls Raastad, David Karasik, Jeroen van de Peppel, Vincent W V Jaddoe, André G Uitterlinden, Jonathan H Tobias, Struan F A Grant, Pantelis G Bagos, David M Evans, Fernando Rivadeneira
Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS meta-analysis of total-body lean mass (TB-LM) and total-body less head bone mineral density (TBLH-BMD) regions in 10,414 children. The estimated SNP heritability is 43% (95% CI: 34-52%) for TBLH-BMD, and 39% (95% CI: 30-48%) for TB-LM, with a shared genetic component of 43% (95% CI: 29-56%)...
July 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28731148/molecular-genetics-and-targeted-therapy-of-wnt-related-human-diseases-review
#12
Masuko Katoh, Masaru Katoh
Canonical WNT signaling through Frizzled and LRP5/6 receptors is transduced to the WNT/β-catenin and WNT/stabilization of proteins (STOP) signaling cascades to regulate cell fate and proliferation, whereas non-canonical WNT signaling through Frizzled or ROR receptors is transduced to the WNT/planar cell polarity (PCP), WNT/G protein-coupled receptor (GPCR) and WNT/receptor tyrosine kinase (RTK) signaling cascades to regulate cytoskeletal dynamics and directional cell movement. WNT/β-catenin signaling cascade crosstalks with RTK/SRK and GPCR-cAMP-PKA signaling cascades to regulate β-catenin phosphorylation and β-catenin-dependent transcription...
September 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28723729/wnt-signaling-in-cardiovascular-disease-opportunities-and-challenges
#13
Austin Gay, Dwight A Towler
PURPOSE OF REVIEW: Cardiometabolic diseases increasingly afflict our aging, dysmetabolic population. Complex signals regulating low-density lipoprotein receptor-related protein (LRP) and frizzled protein family members - the plasma membrane receptors for the cadre of Wnt polypeptide morphogens - contribute to the control of cardiovascular homeostasis. RECENT FINDINGS: Both canonical (β-catenin-dependent) and noncanonical (β-catenin-independent) Wnt signaling programs control vascular smooth muscle (VSM) cell phenotypic modulation in cardiometabolic disease...
October 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28694256/multiple-modes-of-lrp4-function-in-modulation-of-wnt-%C3%AE-catenin-signaling-during-tooth-development
#14
Youngwook Ahn, Carrie Sims, Megan J Murray, Paige K Kuhlmann, Jesús Fuentes-Antrás, Scott D Weatherbee, Robb Krumlauf
During development and homeostasis, precise control of Wnt/β-catenin signaling is in part achieved by secreted and membrane proteins that negatively control activity of the Wnt co-receptors Lrp5 and Lrp6. Lrp4 is related to Lrp5/6 and is implicated in modulation of Wnt/β-catenin signaling, presumably through its ability to bind to the Wise (Sostdc1)/sclerostin (Sost) family of Wnt antagonists. To gain insights into the molecular mechanisms of Lrp4 function in modulating Wnt signaling, we performed an array of genetic analyses in murine tooth development, where Lrp4 and Wise play important roles...
August 1, 2017: Development
https://www.readbyqxmd.com/read/28682874/in-vitro-effect-of-microrna-107-targeting-dkk-1-by-regulation-of-wnt-%C3%AE-catenin-signaling-pathway-in-osteosarcoma
#15
Zhi-Cai Zhang, Jian-Xiang Liu, Zeng-Wu Shao, Fei-Fei Pu, Bai-Chuan Wang, Qiang Wu, Yu-Kun Zhang, Xian-Lin Zeng, Xiao-Dong Guo, Shu-Hua Yang, Tong-Chuan He
BACKGROUND: The aim of the study was to explore the effects of microRNA-107 (miR-107) by targeting Dkk-1 on osteosarcoma (OS) via the Wnt/β-catenin signaling pathway. METHODS: OS and adjacent tissues were collected from 67 patients diagnosed with OS. Expressions of miR-107, Dkk-1, LRP5, β-catenin, and c-Myc were detected by the quantitative real-time polymerase chain reaction (qRT-PCR) and Western blotting. The dual-luciferase reporter gene assay was performed to observe the relationship between miR-107 and Dkk-1...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28677207/new-role-of-lrp5-associated-with-nonsyndromic-autosomal-recessive-hereditary-hearing-loss
#16
Wenjun Xia, Jiongjiong Hu, Fei Liu, Jing Ma, Shaoyang Sun, Jin Zhang, Kaiyue Jin, Jianbo Huang, Nan Jiang, Xu Wang, Wen Li, Zhaoxin Ma, Duan Ma
Human hearing loss is a common neurosensory disorder about which many basic research and clinically relevant questions are unresolved. At least 50% of hearing loss are due to a genetic etiology. Although hundreds of genes have been reported, there are still hundreds of related deafness genes to be found. Clinical, genetic, and functional investigations were performed to identify the causative mutation in a distinctive Chinese family with postlingual nonsyndromic sensorineural hearing loss. Whole-exome sequencing (WES) identified lipoprotein receptor-related protein 5 (LRP5), a member of the low-density lipoprotein receptor family, as the causative gene in this family...
July 4, 2017: Human Mutation
https://www.readbyqxmd.com/read/28655069/delivery-of-parasite-cdg7_flc_0990-rna-transcript-into-intestinal-epithelial-cells-during-cryptosporidium-parvum-infection-suppresses-host-cell-gene-transcription-through-epigenetic-mechanisms
#17
Yang Wang, Ai-Yu Gong, Shibin Ma, Xiqiang Chen, Juliane K Strauss-Soukup, Xian-Ming Chen
Cryptosporidial infection causes dysregulated transcription of host genes key to intestinal epithelial homeostasis, but the underlying mechanisms remain obscure. Previous studies demonstrate that several C. parvum RNA transcripts are selectively delivered into epithelial cells during host cell invasion and may modulate gene transcription in infected cells. We report here that C. parvum infection suppresses the transcription of LRP5, SLC7A8, and IL33 genes in infected intestinal epithelium. Trans-suppression of these genes in infected host cells is associated with promoter enrichment of suppressive epigenetic markers (i...
June 27, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28653207/-familial-exsudative-vitreoretinopathy-fevr-in-childhood
#18
A E Laubichler, P Laubichler, D Zapp, M Klopfer, M Ulbig
A case of secondary neovascularization of the optic disc in familial exsudative vitreoretinopathy (FEVR) is reported. A 12-year-old girl presented with decreased visual acuity of the right eye to 0.05. Funduscopy showed a prominent fibrovascular neovascularization of the optic disc covering the macula. Fluorescein angiography demonstrated circular peripheral ischemia as well as vascular anomalies in both eyes. Peripheral laser coagulation of the ischemic retina of the right eye was conducted with the patient under general anesthesia...
June 26, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28629266/polygonatum-sibiricum-polysaccharide-promotes-osteoblastic-differentiation-through-the-erk-gsk-3%C3%AE-%C3%AE-catenin-signaling-pathway-in-vitro
#19
Xiaoming Peng, Jichen He, Jinmin Zhao, Yunle Wu, Xiongzhi Shi, Li Du, Mengni Nong, Shaohui Zong, Gaofeng Zeng
Natural compound polygonatum sibiricum polysaccharide (PSP) has a variety of biological actions such as reducing blood fat, antitumor and antioxidant activities, and enhancing immune function. Our previous study has revealed that PSP can promote osteoblastic (OB) differentiation in bone mesenchymal stem cells by increasing nuclear accumulation of β-catenin. This study was designed to investigate that PSP can upregulate nuclear β-catenin, which was prevented by inhibiting the glycogen synthase kinase 3β (GSK-3β) activity, by effectively activating Wnt signaling independent of low-density lipoprotein receptor-related protein 5 (LRP5)...
August 3, 2017: Rejuvenation Research
https://www.readbyqxmd.com/read/28607813/differential-involvement-of-wnt-signaling-in-bmp-regulation-of-cancellous-versus-periosteal-bone-growth
#20
Guangxu He, Yu Shi, Joohyun Lim, Teresita Bellido, Jiangdong Ni, Fanxin Long
Bone morphogenetic proteins (Bmp) are well-known to induce bone formation following chondrogenesis, but the direct role of Bmp signaling in the osteoblast lineage is not completely understood. We have recently shown that deletion of the receptor Bmpr1a in the osteoblast lineage with Dmp1-Cre reduces osteoblast activity in general but stimulates proliferation of preosteoblasts specifically in the cancellous bone region, resulting in diminished periosteal bone growth juxtaposed with excessive cancellous bone formation...
2017: Bone Research
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