Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
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| Title: | Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants. |
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| Authors: | Di Zanni E; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy., Palagano E; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy., Lagostena L; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy., Strina D; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy., Rehman A; UMB Department of Biochemistry and Molecular Biology, University of Maryland, Baltimore, MD, USA., Abinun M; Department of Pediatric Immunology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., De Somer L; Department of Pediatric Rheumatology, University Hospital Leuven, Leuven, Belgium., Martire B; Pediatric Unit, 'Monsignor Dimiccoli' Hospital, Barletta, Italy., Brown J; Department of Pediatrics, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Australia.; Department of Pediatric Endocrinology and Diabetes, Monash Children's Hospital, Monash Health, Clayton, Australia., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran., Balasubramaniam S; Department of Metabolic Medicine and Rheumatology, Perth Children's Hospital, Perth, Australia., Baynam G; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia.; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Telethon Kids Institute and Division of Pediatrics, School of Health and Medical Sciences, University of Western Australia, Perth, Australia.; Faculty of Medicine, Notre Dame University, Fremantle, Australia., Gurrieri F; Genetica Medica, Università Campus Bio-Medico, Rome, Italy., Pisanti MA; Medical Genetics Unit, 'Antonio Cardarelli' Hospital, Naples, Italy., De Maggio I; Medical Genetics Unit, 'Antonio Cardarelli' Hospital, Naples, Italy., Abboud MR; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon., Chiesa R; Bone Marrow Transplantation Department, Great Ormond Street Hospital for Children, London, UK., Burren CP; Department of Pediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK., Villa A; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; San Raffaele Telethon Institute for Gene Therapy SR-Tiget, IRCCS San Raffaele Scientific Institute, Milan, Italy., Sobacchi C; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy., Picollo A; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy. |
| Source: | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2021 Mar; Vol. 36 (3), pp. 531-545. Date of Electronic Publication: 2020 Nov 29. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 8610640 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1523-4681 (Electronic) Linking ISSN: 08840431 NLM ISO Abbreviation: J Bone Miner Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33125761 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Di+Zanni+E%22">Di Zanni E</searchLink>; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Palagano+E%22">Palagano E</searchLink>; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy.<br /><searchLink fieldCode="AU" term="%22Lagostena+L%22">Lagostena L</searchLink>; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Strina+D%22">Strina D</searchLink>; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy.<br /><searchLink fieldCode="AU" term="%22Rehman+A%22">Rehman A</searchLink>; UMB Department of Biochemistry and Molecular Biology, University of Maryland, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Abinun+M%22">Abinun M</searchLink>; Department of Pediatric Immunology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22De+Somer+L%22">De Somer L</searchLink>; Department of Pediatric Rheumatology, University Hospital Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Martire+B%22">Martire B</searchLink>; Pediatric Unit, 'Monsignor Dimiccoli' Hospital, Barletta, Italy.<br /><searchLink fieldCode="AU" term="%22Brown+J%22">Brown J</searchLink>; Department of Pediatrics, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Australia.; Department of Pediatric Endocrinology and Diabetes, Monash Children's Hospital, Monash Health, Clayton, Australia.<br /><searchLink fieldCode="AU" term="%22Kariminejad+A%22">Kariminejad A</searchLink>; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Balasubramaniam+S%22">Balasubramaniam S</searchLink>; Department of Metabolic Medicine and Rheumatology, Perth Children's Hospital, Perth, Australia.<br /><searchLink fieldCode="AU" term="%22Baynam+G%22">Baynam G</searchLink>; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Subiaco, Australia.; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Telethon Kids Institute and Division of Pediatrics, School of Health and Medical Sciences, University of Western Australia, Perth, Australia.; Faculty of Medicine, Notre Dame University, Fremantle, Australia.<br /><searchLink fieldCode="AU" term="%22Gurrieri+F%22">Gurrieri F</searchLink>; Genetica Medica, Università Campus Bio-Medico, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Pisanti+MA%22">Pisanti MA</searchLink>; Medical Genetics Unit, 'Antonio Cardarelli' Hospital, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22De+Maggio+I%22">De Maggio I</searchLink>; Medical Genetics Unit, 'Antonio Cardarelli' Hospital, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Abboud+MR%22">Abboud MR</searchLink>; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.<br /><searchLink fieldCode="AU" term="%22Chiesa+R%22">Chiesa R</searchLink>; Bone Marrow Transplantation Department, Great Ormond Street Hospital for Children, London, UK.<br /><searchLink fieldCode="AU" term="%22Burren+CP%22">Burren CP</searchLink>; Department of Pediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; Bristol Medical School, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Villa+A%22">Villa A</searchLink>; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; San Raffaele Telethon Institute for Gene Therapy SR-Tiget, IRCCS San Raffaele Scientific Institute, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Sobacchi+C%22">Sobacchi C</searchLink>; Consiglio Nazionale delle Ricerche-Istituto di Ricerca Genetica e Biomedica (CNR-IRGB), Milan, Italy.; Humanitas Clinical and Research Center, Rozzano, Italy.<br /><searchLink fieldCode="AU" term="%22Picollo+A%22">Picollo A</searchLink>; Consiglio Nazionale delle Ricerche, Istituto di Biofisica (CNR-IBF), Dulbecco Telethon Laboratory, Genoa, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%228610640%22">Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research</searchLink> [J Bone Miner Res] 2021 Mar; Vol. 36 (3), pp. 531-545. <i>Date of Electronic Publication: </i>2020 Nov 29. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>8610640 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1523-4681 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208840431%22">08840431 </searchLink><i>NLM ISO Abbreviation: </i>J Bone Miner Res <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33125761 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jbmr.4200 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 531 Titles: – TitleFull: Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Di Zanni E – PersonEntity: Name: NameFull: Palagano E – PersonEntity: Name: NameFull: Lagostena L – PersonEntity: Name: NameFull: Strina D – PersonEntity: Name: NameFull: Rehman A – PersonEntity: Name: NameFull: Abinun M – PersonEntity: Name: NameFull: De Somer L – PersonEntity: Name: NameFull: Martire B – PersonEntity: Name: NameFull: Brown J – PersonEntity: Name: NameFull: Kariminejad A – PersonEntity: Name: NameFull: Balasubramaniam S – PersonEntity: Name: NameFull: Baynam G – PersonEntity: Name: NameFull: Gurrieri F – PersonEntity: Name: NameFull: Pisanti MA – PersonEntity: Name: NameFull: De Maggio I – PersonEntity: Name: NameFull: Abboud MR – PersonEntity: Name: NameFull: Chiesa R – PersonEntity: Name: NameFull: Burren CP – PersonEntity: Name: NameFull: Villa A – PersonEntity: Name: NameFull: Sobacchi C – PersonEntity: Name: NameFull: Picollo A IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2021 Mar Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1523-4681 Numbering: – Type: volume Value: 36 – Type: issue Value: 3 Titles: – TitleFull: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research Type: main |
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