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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 | Benefits from small molecule ad-ministration as compared with abciximab among patients with ST-seg-ment elevation myocardial infarction treated with primary angioplasty : ameta-analysis显示文摘 | De Luca G Ucci G Cassetti E | 2009 | J Am Coll Cardiol2009，53，： | 1 |
| 3 | Benefits from small molecule administration as compared with abciximab among patients with ST-segment elevation myocardial infarction treated with primary angioplasty: A meta-analysis显示文摘 | De Luca G Ucci G Cassetti E | 2009 | J Am Coll Cardiol2009，53，18： | 1 |
| 4 | Induction of mammarygland ductal hyperplasias and carcinoma in situ following fetalbisphenol A exposure显示文摘 | MURRAY T J MAFFINI M V UCCI A A | 2007 | Reprod Toxicol2007，23，3： | 1 |
| 5 | Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease 显示文摘 | Alroy J Pfannl R Ucci A | 2007 | Ultrastruct Pathol2007，31，5： | 1 |
| 6 | Computed tomographic findings in renal angiomyolipoma:an histologic correlation显示文摘 | Sant GR Heaney JA Ucci AA Jr | 2005 | J Urol2005，24，： | 1 |
| 7 | Bearing estimation with mutual coupling present显示文摘 | C C Yeh M L Leou D R Ucci | 1989 | IEEE on AP1989，37，10： | 1 |
| 8 | Elevated levels of interleukin - 6 in unstable angina 显示文摘 | Bias ucci L M Vitelli A Liuzzo G | 1996 | Circulation1996，94，： | 1 |
| 9 | Induction of mammary gland ductal hyperplasias and carcinoma in situ following fetal bisphenol A exposure显示文摘 | Murray T J Maffini M V Ucci A A | 2007 | Reproductive Toxicology2007，23，3： | 1 |
| 10 | Single-Molecule Folding Mechanism of an EF-Hand Neuronal Calcium Sensor显示文摘 | Heidarsson PO Otazo MR Bel ucci L | | 0，，10： | 1 |
| 11 | Billiary cystadenocarcinoma arising in a- congential cyst显示文摘 | Devine P Ucci A | 1985 | Hum Path1985，16，1： | 1 |
| 12 | Stereoselective and improved syntheses and anticancer testing of 3'-0- silatranylthymidines显示文摘 | Black CA Ucci JW Vorpagel JS | 2002 | Bioorg Med Chem Lett2002，12，24： | 1 |
| 13 | Rapidly progressive glomerulonephritis after immunotherapy for cancer显示文摘 | Parker M G Atkins M B Ucci A A | 1995 | J Am Soc Nephrol1995，5，10： | 1 |
| 14 | Coated formula- tion: new insight into the release meehanism and changes in the film properties with a novel release eell 显示文摘 | Mm'ucci M Hjrtstam J Ragnarsson G | 2009 | J Control Re- lease2009，136，3： | 1 |
| 15 | A case of Evans' syndrome in a patient with ulcerative colitis显示文摘 | Ucci G Ferrando P Valentini D | 2003 | Dig Liver Dis2003，35，6： | 1 |
| 16 | Ocularhaemodynamics and glaucoma prognosis : a colour Doppler ima-ging study 显示文摘 | Galassi F Sodi A’Ucci F’Renieri G Pieri B Baccini M | 2003 | Arch Ophthalmol2003，121，12： | 1 |
| 17 | Ocular hemodynamics and glaucoma prognosis:a color Doppler image study显示文摘 | Galassi F Sodi A Ucci F | 2003 | Arch Ophthalmol2003，121，12： | 1 |
| 18 | Indoor PM 2.5 exposure in London’s domestic stock: Modelling current and future exposures following energy efficient refurbishment显示文摘 | C. Shrubsole I. Ridley P. Biddulph J. Milner S. Vardoulakis M. Ucci P. Wilkinson Z. Chalabi M. Davies | 2012 | Atmospheric Environment2012，，： | 1 |
| 19 | Computed tomographic findings in renal angiomyolipoma:an histologic correlation显示文摘 | Sant GR Heaney JA Ucci AA Jr | 1984 | Urol1984，24，： | 1 |
| 20 | Benefits from small molecule administration as compared with abciximab among patients with ST- segment elevation myocardial infarction treated with primary angioplas- ty: a meta-analysis 显示文摘 | De-Luca G Ucci G Cassetti E | 2009 | J Am Coll Cardiol2009，53，18： | 1 |
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