Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.
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| Title: | Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome. |
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| Authors: | Kumar R; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Rheumatology and Clinical Immunology, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili, Brescia, Italy., Milanesi S; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Szpakowska M; Department of Infection and Immunity, Immuno-Pharmacology and Interactomics, Luxembourg Institute of Health, Esch-sur-Alzette, Luxembourg., Dotta L; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Department of Pediatrics, ASST Spedali Civili, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili, Brescia, Italy., Di Silvestre D; Institute for Biomedical Technologies-National Research Council (ITB-CNR), Segrate, Milan, Italy., Trotta AM; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy., Bello AM; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy., Giacomelli M; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy., Benedito M; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Azevedo J; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Pereira A; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Cortesao E; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal., Vacchini A; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Castagna A; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Pinelli M; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy., Moratto D; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy., Bonecchi R; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy., Locati M; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Scala S; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy., Chevigné A; Department of Infection and Immunity, Immuno-Pharmacology and Interactomics, Luxembourg Institute of Health, Esch-sur-Alzette, Luxembourg., Borroni EM; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Badolato R; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Department of Pediatrics, ASST Spedali Civili, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili, Brescia, Italy. |
| Source: | JCI insight [JCI Insight] 2023 Mar 08; Vol. 8 (5). Date of Electronic Publication: 2023 Mar 08. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36883568 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kumar+R%22">Kumar R</searchLink>; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Rheumatology and Clinical Immunology, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Milanesi+S%22">Milanesi S</searchLink>; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Szpakowska+M%22">Szpakowska M</searchLink>; Department of Infection and Immunity, Immuno-Pharmacology and Interactomics, Luxembourg Institute of Health, Esch-sur-Alzette, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Dotta+L%22">Dotta L</searchLink>; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Department of Pediatrics, ASST Spedali Civili, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Silvestre+D%22">Di Silvestre D</searchLink>; Institute for Biomedical Technologies-National Research Council (ITB-CNR), Segrate, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Trotta+AM%22">Trotta AM</searchLink>; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Bello+AM%22">Bello AM</searchLink>; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Giacomelli+M%22">Giacomelli M</searchLink>; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Benedito+M%22">Benedito M</searchLink>; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Azevedo+J%22">Azevedo J</searchLink>; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Pereira+A%22">Pereira A</searchLink>; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Cortesao+E%22">Cortesao E</searchLink>; Department of Clinical Hematology, Pediatric Hospital, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Vacchini+A%22">Vacchini A</searchLink>; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Castagna+A%22">Castagna A</searchLink>; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pinelli+M%22">Pinelli M</searchLink>; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Moratto+D%22">Moratto D</searchLink>; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Bonecchi+R%22">Bonecchi R</searchLink>; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Locati+M%22">Locati M</searchLink>; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Scala+S%22">Scala S</searchLink>; Microenvironment Molecular Targets, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Chevigné+A%22">Chevigné A</searchLink>; Department of Infection and Immunity, Immuno-Pharmacology and Interactomics, Luxembourg Institute of Health, Esch-sur-Alzette, Luxembourg.<br /><searchLink fieldCode="AU" term="%22Borroni+EM%22">Borroni EM</searchLink>; Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Badolato+R%22">Badolato R</searchLink>; 'Angelo Nocivelli' Institute for Molecular Medicine, University of Brescia, Brescia, Italy.; Department of Pediatrics, ASST Spedali Civili, Brescia, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili, Brescia, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101676073%22">JCI insight</searchLink> [JCI Insight] 2023 Mar 08; Vol. 8 (5). <i>Date of Electronic Publication: </i>2023 Mar 08. – 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="%22American+Society+for+Clinical+Investigation%22">American Society for Clinical Investigation </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101676073 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2379-3708 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223793708%22">23793708 </searchLink><i>NLM ISO Abbreviation: </i>JCI Insight <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36883568 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1172/jci.insight.145688 Languages: – Code: eng Text: English Titles: – TitleFull: Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kumar R – PersonEntity: Name: NameFull: Milanesi S – PersonEntity: Name: NameFull: Szpakowska M – PersonEntity: Name: NameFull: Dotta L – PersonEntity: Name: NameFull: Di Silvestre D – PersonEntity: Name: NameFull: Trotta AM – PersonEntity: Name: NameFull: Bello AM – PersonEntity: Name: NameFull: Giacomelli M – PersonEntity: Name: NameFull: Benedito M – PersonEntity: Name: NameFull: Azevedo J – PersonEntity: Name: NameFull: Pereira A – PersonEntity: Name: NameFull: Cortesao E – PersonEntity: Name: NameFull: Vacchini A – PersonEntity: Name: NameFull: Castagna A – PersonEntity: Name: NameFull: Pinelli M – PersonEntity: Name: NameFull: Moratto D – PersonEntity: Name: NameFull: Bonecchi R – PersonEntity: Name: NameFull: Locati M – PersonEntity: Name: NameFull: Scala S – PersonEntity: Name: NameFull: Chevigné A – PersonEntity: Name: NameFull: Borroni EM – PersonEntity: Name: NameFull: Badolato R IsPartOfRelationships: – BibEntity: Dates: – D: 08 M: 03 Text: 2023 Mar 08 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 2379-3708 Numbering: – Type: volume Value: 8 – Type: issue Value: 5 Titles: – TitleFull: JCI insight Type: main |
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