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| 1 | Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications显示文摘Autosomal dominant osteopetrosis type 2 (ADO2) is a high-density brittle bone disease characterized by bone pain,multiple fractures and skeletal-related events,including nerve compression syndrome and hematological failure.We demonstrated that in mice carrying the heterozygous Clcn7^G213R mutation,whose human mutant homolog CLCN7^G215R affects patients,the clinical impacts of ADO2 extend beyond the skeleton,affecting several other organs.The hallmark of the extra-skeletal alterations is a consistent perivascular fibrosis,associated with high numbers of macrophages and lymphoid infiltrates.Fragmented clinical information in a small cohort of patients confirms extra-skeletal alterations consistent with a systemic disease,in line with the observation that the CLCN7 gene is expressed in many organs.ADO2 mice also show anxiety and depression and their brains exhibit not only perivascular fibrosis but also β-amyloid accumulation and astrogliosis,suggesting the involvement of the nervous system in the pathogenesis of the ADO2 extra-skeletal alterations.Extra-skeletal organs share a similar cellular pathology,confirmed also in vitro in bone marrow mononuclear cells and osteoclasts,characterized by an impairment of the exit pathway of the Clcn7 protein product,ClC7,through the Golgi,with consequent reduced ClC7 expression in late endosomes and lysosomes,associated with high vesicular pH and accumulation of autophagosome markers.Finally,an experimental siRNA therapy,previously proven to counteract the bone phenotype,also improves the extra-skeletal alterations.These results could have important clinical implications,supporting the notion that a systematic evaluation of ADO2 patients for extra-skeletal symptoms could help improve their diagnosis,clinical management,and therapeutic options. | Antonio Maurizi Mattia Capulli Annabel Curle Rajvi Patel Argia Ucci Juliana Alves Cotes Harriet Oxford Shireen R. Lamandé John F. Bateman Nadia Rucci Anna Teti | 2019 | Bone Research2019，7，2： | 3 |
| 2 | The Influence of Solid Boundaries upon Aerody- namic Sound 显示文摘 | Curle N | 1955 | Proceeding of the Royal Society of Lon- don1955，231，1187： | 1 |
| 3 | Sub-ppbv nitric oxide concentration measurements using cw room temperature quantum cascade laser based integrated cavity spectroscopy显示文摘 | BAKHIRKIN Y A KOSTEREV A A CURL R F | | 0，，01： | 1 |
| 4 | Screening for asymptomtic deep vein thrombosis in surgical intensive care patients显示文摘 | Harris L M Curl G R Booth F V | 1997 | J Vasc Surg1997，26，6： | 1 |
| 5 | Radiological Prediction of Posttraumatic Kyphosis After Thoraeolumbar Fracture显示文摘 | Curl's I Grimm B Linde M | 2016 | The Open Orthopaedics Journal2016，10，1： | 1 |
| 6 | Etiologic factors associated with patellofemoral pain in runners显示文摘 | Messier SP Davis SE Curl WW Lowery RB Pack RJ | | 0，，： | 1 |
| 7 | Targeted GLUT-4 deficiency in the heart induces cardiomyocyte hypertrophy and impaired contractility linked with Ca2 + and proton flux dysregulation显示文摘 | Domenighetti AA Danes VR Curl CL | | 0，，4： | 1 |
| 8 | Asthenozoospemia: Analysis of large population 显示文摘 | Curl SM Ariagno JI Chenlo PH | 2003 | Arch Androl2003，49，5： | 1 |
| 9 | Mycoplmgous grazing and food preference of Proisotoma minuta ( Collembola: Isotomidae) and Onychiurus encarpatus (Collembola: Onychiuridae) 显示文摘 | Lartey R T Curl E E Peterson C M Harper J D | 1989 | Environmental Entomology1989，，18： | 1 |
| 10 | Dispersed phase mixing: I theory and effectsin simple reactors显示文摘 | Curl R L | 1963 | IChE Journal1963，9，2： | 1 |
| 11 | Quartz-enhanced photoacoustic spectroscopy显示文摘 | KOSTEREV A A BAKHIRKIN Y A CURL R F | 2002 | Optics Letters2002，27，21： | 1 |
| 12 | Specific absense of type 2 fimbriae on a coaggregation -defective mutant of Actinomyces viscosus T14V显示文摘 | Cisar JO Curl SH Kolenbrander PE | 1983 | Infect Immun1983，40，2： | 1 |
| 13 | An analysis of the natural history of cavernous angiomas 显示文摘 | Curling DO Kelly DL Elster A | 1991 | J Neurosurg1991，75，5： | 1 |
| 14 | An analysis of the natural history of cavernous angiomas显示文摘 | Del Curling O Jr Kelly DL Jr Elster AD | 1991 | J Neurosurg1991，75，5： | 1 |
| 15 | Biological evaluation of ehaleones and analogues as hy- polipidemic agents 显示文摘 | Santos L Curl - Pedrosa R Correa R Cechinel - Filho V Nunes R J Yunes R A | 2006 | Arch - Pharm - ( Weinheim)2006，339，： | 1 |
| 16 | Lanthanum complexes of spheroidal carbon shells显示文摘 | Heath J R O' Brien S C Zhang Q Liu Y Curl R F Kroto H W Tittel F K Smalley R E | 1985 | J Am Chem Soc1985，107，： | 1 |
| 17 | Molecular mechanisms of glutamine action显示文摘 | Curl R Lagranha CJ Doi SQ | 2005 | J Cell Physiol2005，204，2： | 1 |
| 18 | The influence of solid boundaries on aerody- namic sound 显示文摘 | CURLE N | 1955 | Proceedings of the Royal Society of London1955，213，187： | 1 |
| 19 | Severe pre-eclampsia :hemodynamic effects of lumbar epidural anesthesia显示文摘 | Newsome LR Bramwell RS Curling PE | 1986 | Anesthesia Analgesia1986，65，： | 1 |
| 20 | Treatment of cancer-related anemia显示文摘 | Badzek S Curl 6 Z Krajina Z | 2008 | Coil Antmpol2008，32，2： | 1 |
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