Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance
Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have in...
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| creator | Tsyklauri, Oksana Niederlova, Veronika Forsythe, Elizabeth Prasai, Avishek Drobek, Ales Kasparek, Petr Sparks, Kathryn Trachtulec, Zdenek Prochazka, Jan Sedlacek, Radislav Beales, Philip Huranova, Martina Stepanek, Ondrej |
| description | Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have influence on the hematopoietic compartment and immunity. In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in
Bbs4
or
Bbs18
. We find that BBS patients have a higher prevalence of certain autoimmune diseases. Both BBS patients and animal models have altered red blood cell and platelet compartments, as well as elevated white blood cell levels. Some of the hematopoietic system alterations are associated with BBS-induced obesity. Moreover, we observe that the development and homeostasis of B cells in mice is regulated by the transport complex BBSome, whose dysfunction is a common cause of BBS. The BBSome limits canonical WNT signaling and increases CXCL12 levels in bone marrow stromal cells. Taken together, our study reveals a connection between a ciliopathy and dysregulated immune and hematopoietic systems.
SYNOPSIS
Bardet-Biedl Syndrome is a pleiotropic genetic disease caused by the dysfunction of primary cilia. BBS is associated with altered hematopoiesis and homeostasis of the immune system in patients and mouse models.
Patients suffering from Bardet-Biedl Syndrome are prone to autoimmunity.
Bardet-Biedl patients and corresponding mouse models show altered hematopoiesis and homeostasis of blood cells.
Development and homeostasis of B cells in mice are regulated by the BBSome transport complex.
Obesity and reduced production of CXCL12 in bone marrow stromal cells cause these hematopoietic alterations.
Graphical Abstract
Bardet-Biedl Syndrome is a pleiotropic genetic disease caused by the dysfunction of primary cilia. BBS is associated with altered hematopoiesis and homeostasis of the immune system in patients and mouse models. |
| doi_str_mv | 10.15252/embr.202050785 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_C6C</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7857422</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2485522399</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4805-c9933ec3e1f2dccc4e9e68ab7d0ef70e2c1d01b31711bfb755e4a04061a112db3</originalsourceid><addsrcrecordid>eNqFUctOGzEUtaqihgbW3VUjdT1ge8aZmS4qNVEKSCAkHhI7y2PfSZx6xsF2QLPrP_QP-RIMCYEuKla-0nn43HsQ-kLwAWGU0UNoa3dAMcUMFyX7gHZJPqrSjBTlx81MKbkZoM_eLzDGrCrKT2iQZTkdFWW1i2AsnILw8OfvWIMyyWXfKWdbSKQ22i5FmPeJ9onR3W9QSbCJMAFcHOfQimCXVoOPuOhUonrvYLYyIkTYg2nSYA040UnYQzuNMB72N-8QXf-aXk2O09Pzo5PJz9NU5iVmqayqLAOZAWmoklLmUMGoFHWhMDQFBiqJwqSO2xFSN3XBGOQC53hEBCFU1dkQ_Vj7Lld1C0pCF5wwfOl0K1zPrdD8X6TTcz6zdzzersgpjQbfNgbO3q7AB76wK9fFzJzmJWOREjMO0eGaJZ31celm-wPB_LkX_tQL3_YSFV_fBtvyX4qIhO9rwr020L_nx6dn44u37ngt9lHXzcC9pv5foEemnq5y</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2485522399</pqid></control><display><type>article</type><title>Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance</title><source>Springer Nature OA Free Journals</source><creator>Tsyklauri, Oksana ; Niederlova, Veronika ; Forsythe, Elizabeth ; Prasai, Avishek ; Drobek, Ales ; Kasparek, Petr ; Sparks, Kathryn ; Trachtulec, Zdenek ; Prochazka, Jan ; Sedlacek, Radislav ; Beales, Philip ; Huranova, Martina ; Stepanek, Ondrej</creator><creatorcontrib>Tsyklauri, Oksana ; Niederlova, Veronika ; Forsythe, Elizabeth ; Prasai, Avishek ; Drobek, Ales ; Kasparek, Petr ; Sparks, Kathryn ; Trachtulec, Zdenek ; Prochazka, Jan ; Sedlacek, Radislav ; Beales, Philip ; Huranova, Martina ; Stepanek, Ondrej</creatorcontrib><description>Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have influence on the hematopoietic compartment and immunity. In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in
Bbs4
or
Bbs18
. We find that BBS patients have a higher prevalence of certain autoimmune diseases. Both BBS patients and animal models have altered red blood cell and platelet compartments, as well as elevated white blood cell levels. Some of the hematopoietic system alterations are associated with BBS-induced obesity. Moreover, we observe that the development and homeostasis of B cells in mice is regulated by the transport complex BBSome, whose dysfunction is a common cause of BBS. The BBSome limits canonical WNT signaling and increases CXCL12 levels in bone marrow stromal cells. Taken together, our study reveals a connection between a ciliopathy and dysregulated immune and hematopoietic systems.
SYNOPSIS
Bardet-Biedl Syndrome is a pleiotropic genetic disease caused by the dysfunction of primary cilia. BBS is associated with altered hematopoiesis and homeostasis of the immune system in patients and mouse models.
Patients suffering from Bardet-Biedl Syndrome are prone to autoimmunity.
Bardet-Biedl patients and corresponding mouse models show altered hematopoiesis and homeostasis of blood cells.
Development and homeostasis of B cells in mice are regulated by the BBSome transport complex.
Obesity and reduced production of CXCL12 in bone marrow stromal cells cause these hematopoietic alterations.
Graphical Abstract
Bardet-Biedl Syndrome is a pleiotropic genetic disease caused by the dysfunction of primary cilia. BBS is associated with altered hematopoiesis and homeostasis of the immune system in patients and mouse models.</description><identifier>ISSN: 1469-221X</identifier><identifier>EISSN: 1469-3178</identifier><identifier>DOI: 10.15252/embr.202050785</identifier><identifier>PMID: 33426789</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Animal models ; Animals ; Autoimmune Diseases ; Bardet-Biedl Syndrome - complications ; Bardet-Biedl Syndrome - genetics ; Bardet–Biedl Syndrome ; Blood ; Bone marrow ; Cilia ; ciliopathy ; CXCL12 ; CXCL12 protein ; Disease Models, Animal ; EMBO18 ; EMBO19 ; EMBO24 ; Erythrocytes ; Genetic disorders ; Hematopoiesis ; Hematopoiesis - genetics ; Hematopoietic system ; Homeostasis ; Humans ; Immune system ; immunity ; Immunological tolerance ; Leukocytes ; Lymphocytes B ; Mice ; Microtubule-Associated Proteins - genetics ; Mutation ; Obesity ; Pleiotropy ; Stromal cells ; Wnt protein</subject><ispartof>EMBO reports, 2021-02, Vol.22 (2), p.e50785-n/a</ispartof><rights>The Author(s) 2021</rights><rights>2021 The Authors</rights><rights>2021 The Authors.</rights><rights>2021 EMBO</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4805-c9933ec3e1f2dccc4e9e68ab7d0ef70e2c1d01b31711bfb755e4a04061a112db3</citedby><cites>FETCH-LOGICAL-c4805-c9933ec3e1f2dccc4e9e68ab7d0ef70e2c1d01b31711bfb755e4a04061a112db3</cites><orcidid>0000-0001-8768-9039 ; 0000-0001-9997-5913 ; 0000-0002-9164-9782 ; 0000-0002-2735-3311 ; 0000-0003-1066-9413 ; 0000-0002-4403-1146</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7857422/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7857422/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,1411,1427,27901,27902,41096,42165,45550,45551,46384,46808,51551,53766,53768</link.rule.ids><linktorsrc>$$Uhttps://doi.org/10.15252/embr.202050785$$EView_record_in_Springer_Nature$$FView_record_in_$$GSpringer_Nature</linktorsrc><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33426789$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tsyklauri, Oksana</creatorcontrib><creatorcontrib>Niederlova, Veronika</creatorcontrib><creatorcontrib>Forsythe, Elizabeth</creatorcontrib><creatorcontrib>Prasai, Avishek</creatorcontrib><creatorcontrib>Drobek, Ales</creatorcontrib><creatorcontrib>Kasparek, Petr</creatorcontrib><creatorcontrib>Sparks, Kathryn</creatorcontrib><creatorcontrib>Trachtulec, Zdenek</creatorcontrib><creatorcontrib>Prochazka, Jan</creatorcontrib><creatorcontrib>Sedlacek, Radislav</creatorcontrib><creatorcontrib>Beales, Philip</creatorcontrib><creatorcontrib>Huranova, Martina</creatorcontrib><creatorcontrib>Stepanek, Ondrej</creatorcontrib><title>Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance</title><title>EMBO reports</title><addtitle>EMBO Rep</addtitle><addtitle>EMBO Rep</addtitle><description>Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have influence on the hematopoietic compartment and immunity. In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in
Bbs4
or
Bbs18
. We find that BBS patients have a higher prevalence of certain autoimmune diseases. Both BBS patients and animal models have altered red blood cell and platelet compartments, as well as elevated white blood cell levels. Some of the hematopoietic system alterations are associated with BBS-induced obesity. Moreover, we observe that the development and homeostasis of B cells in mice is regulated by the transport complex BBSome, whose dysfunction is a common cause of BBS. The BBSome limits canonical WNT signaling and increases CXCL12 levels in bone marrow stromal cells. Taken together, our study reveals a connection between a ciliopathy and dysregulated immune and hematopoietic systems.
SYNOPSIS
Bardet-Biedl Syndrome is a pleiotropic genetic disease caused by the dysfunction of primary cilia. BBS is associated with altered hematopoiesis and homeostasis of the immune system in patients and mouse models.
Patients suffering from Bardet-Biedl Syndrome are prone to autoimmunity.
Bardet-Biedl patients and corresponding mouse models show altered hematopoiesis and homeostasis of blood cells.
Development and homeostasis of B cells in mice are regulated by the BBSome transport complex.
Obesity and reduced production of CXCL12 in bone marrow stromal cells cause these hematopoietic alterations.
Graphical Abstract
Bardet-Biedl Syndrome is a pleiotropic genetic disease caused by the dysfunction of primary cilia. BBS is associated with altered hematopoiesis and homeostasis of the immune system in patients and mouse models.</description><subject>Animal models</subject><subject>Animals</subject><subject>Autoimmune Diseases</subject><subject>Bardet-Biedl Syndrome - complications</subject><subject>Bardet-Biedl Syndrome - genetics</subject><subject>Bardet–Biedl Syndrome</subject><subject>Blood</subject><subject>Bone marrow</subject><subject>Cilia</subject><subject>ciliopathy</subject><subject>CXCL12</subject><subject>CXCL12 protein</subject><subject>Disease Models, Animal</subject><subject>EMBO18</subject><subject>EMBO19</subject><subject>EMBO24</subject><subject>Erythrocytes</subject><subject>Genetic disorders</subject><subject>Hematopoiesis</subject><subject>Hematopoiesis - genetics</subject><subject>Hematopoietic system</subject><subject>Homeostasis</subject><subject>Humans</subject><subject>Immune system</subject><subject>immunity</subject><subject>Immunological tolerance</subject><subject>Leukocytes</subject><subject>Lymphocytes B</subject><subject>Mice</subject><subject>Microtubule-Associated Proteins - genetics</subject><subject>Mutation</subject><subject>Obesity</subject><subject>Pleiotropy</subject><subject>Stromal cells</subject><subject>Wnt protein</subject><issn>1469-221X</issn><issn>1469-3178</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFUctOGzEUtaqihgbW3VUjdT1ge8aZmS4qNVEKSCAkHhI7y2PfSZx6xsF2QLPrP_QP-RIMCYEuKla-0nn43HsQ-kLwAWGU0UNoa3dAMcUMFyX7gHZJPqrSjBTlx81MKbkZoM_eLzDGrCrKT2iQZTkdFWW1i2AsnILw8OfvWIMyyWXfKWdbSKQ22i5FmPeJ9onR3W9QSbCJMAFcHOfQimCXVoOPuOhUonrvYLYyIkTYg2nSYA040UnYQzuNMB72N-8QXf-aXk2O09Pzo5PJz9NU5iVmqayqLAOZAWmoklLmUMGoFHWhMDQFBiqJwqSO2xFSN3XBGOQC53hEBCFU1dkQ_Vj7Lld1C0pCF5wwfOl0K1zPrdD8X6TTcz6zdzzersgpjQbfNgbO3q7AB76wK9fFzJzmJWOREjMO0eGaJZ31celm-wPB_LkX_tQL3_YSFV_fBtvyX4qIhO9rwr020L_nx6dn44u37ngt9lHXzcC9pv5foEemnq5y</recordid><startdate>20210203</startdate><enddate>20210203</enddate><creator>Tsyklauri, Oksana</creator><creator>Niederlova, Veronika</creator><creator>Forsythe, Elizabeth</creator><creator>Prasai, Avishek</creator><creator>Drobek, Ales</creator><creator>Kasparek, Petr</creator><creator>Sparks, Kathryn</creator><creator>Trachtulec, Zdenek</creator><creator>Prochazka, Jan</creator><creator>Sedlacek, Radislav</creator><creator>Beales, Philip</creator><creator>Huranova, Martina</creator><creator>Stepanek, Ondrej</creator><general>Nature Publishing Group UK</general><general>Blackwell Publishing Ltd</general><general>John Wiley and Sons Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QL</scope><scope>7T5</scope><scope>7TM</scope><scope>7TO</scope><scope>7U9</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>P64</scope><scope>RC3</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0001-8768-9039</orcidid><orcidid>https://orcid.org/0000-0001-9997-5913</orcidid><orcidid>https://orcid.org/0000-0002-9164-9782</orcidid><orcidid>https://orcid.org/0000-0002-2735-3311</orcidid><orcidid>https://orcid.org/0000-0003-1066-9413</orcidid><orcidid>https://orcid.org/0000-0002-4403-1146</orcidid></search><sort><creationdate>20210203</creationdate><title>Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance</title><author>Tsyklauri, Oksana ; Niederlova, Veronika ; Forsythe, Elizabeth ; Prasai, Avishek ; Drobek, Ales ; Kasparek, Petr ; Sparks, Kathryn ; Trachtulec, Zdenek ; Prochazka, Jan ; Sedlacek, Radislav ; Beales, Philip ; Huranova, Martina ; Stepanek, Ondrej</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4805-c9933ec3e1f2dccc4e9e68ab7d0ef70e2c1d01b31711bfb755e4a04061a112db3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Animal models</topic><topic>Animals</topic><topic>Autoimmune Diseases</topic><topic>Bardet-Biedl Syndrome - complications</topic><topic>Bardet-Biedl Syndrome - genetics</topic><topic>Bardet–Biedl Syndrome</topic><topic>Blood</topic><topic>Bone marrow</topic><topic>Cilia</topic><topic>ciliopathy</topic><topic>CXCL12</topic><topic>CXCL12 protein</topic><topic>Disease Models, Animal</topic><topic>EMBO18</topic><topic>EMBO19</topic><topic>EMBO24</topic><topic>Erythrocytes</topic><topic>Genetic disorders</topic><topic>Hematopoiesis</topic><topic>Hematopoiesis - genetics</topic><topic>Hematopoietic system</topic><topic>Homeostasis</topic><topic>Humans</topic><topic>Immune system</topic><topic>immunity</topic><topic>Immunological tolerance</topic><topic>Leukocytes</topic><topic>Lymphocytes B</topic><topic>Mice</topic><topic>Microtubule-Associated Proteins - genetics</topic><topic>Mutation</topic><topic>Obesity</topic><topic>Pleiotropy</topic><topic>Stromal cells</topic><topic>Wnt protein</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tsyklauri, Oksana</creatorcontrib><creatorcontrib>Niederlova, Veronika</creatorcontrib><creatorcontrib>Forsythe, Elizabeth</creatorcontrib><creatorcontrib>Prasai, Avishek</creatorcontrib><creatorcontrib>Drobek, Ales</creatorcontrib><creatorcontrib>Kasparek, Petr</creatorcontrib><creatorcontrib>Sparks, Kathryn</creatorcontrib><creatorcontrib>Trachtulec, Zdenek</creatorcontrib><creatorcontrib>Prochazka, Jan</creatorcontrib><creatorcontrib>Sedlacek, Radislav</creatorcontrib><creatorcontrib>Beales, Philip</creatorcontrib><creatorcontrib>Huranova, Martina</creatorcontrib><creatorcontrib>Stepanek, Ondrej</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Immunology Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Oncogenes and Growth Factors Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>EMBO reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Tsyklauri, Oksana</au><au>Niederlova, Veronika</au><au>Forsythe, Elizabeth</au><au>Prasai, Avishek</au><au>Drobek, Ales</au><au>Kasparek, Petr</au><au>Sparks, Kathryn</au><au>Trachtulec, Zdenek</au><au>Prochazka, Jan</au><au>Sedlacek, Radislav</au><au>Beales, Philip</au><au>Huranova, Martina</au><au>Stepanek, Ondrej</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance</atitle><jtitle>EMBO reports</jtitle><stitle>EMBO Rep</stitle><addtitle>EMBO Rep</addtitle><date>2021-02-03</date><risdate>2021</risdate><volume>22</volume><issue>2</issue><spage>e50785</spage><epage>n/a</epage><pages>e50785-n/a</pages><issn>1469-221X</issn><eissn>1469-3178</eissn><abstract>Bardet–Biedl Syndrome (BBS) is a pleiotropic genetic disease caused by the dysfunction of primary cilia. The immune system of patients with ciliopathies has not been investigated. However, there are multiple indications that the impairment of the processes typically associated with cilia may have influence on the hematopoietic compartment and immunity. In this study, we analyze clinical data of BBS patients and corresponding mouse models carrying mutations in
Bbs4
or
Bbs18
. We find that BBS patients have a higher prevalence of certain autoimmune diseases. Both BBS patients and animal models have altered red blood cell and platelet compartments, as well as elevated white blood cell levels. Some of the hematopoietic system alterations are associated with BBS-induced obesity. Moreover, we observe that the development and homeostasis of B cells in mice is regulated by the transport complex BBSome, whose dysfunction is a common cause of BBS. The BBSome limits canonical WNT signaling and increases CXCL12 levels in bone marrow stromal cells. Taken together, our study reveals a connection between a ciliopathy and dysregulated immune and hematopoietic systems.
SYNOPSIS
Bardet-Biedl Syndrome is a pleiotropic genetic disease caused by the dysfunction of primary cilia. BBS is associated with altered hematopoiesis and homeostasis of the immune system in patients and mouse models.
Patients suffering from Bardet-Biedl Syndrome are prone to autoimmunity.
Bardet-Biedl patients and corresponding mouse models show altered hematopoiesis and homeostasis of blood cells.
Development and homeostasis of B cells in mice are regulated by the BBSome transport complex.
Obesity and reduced production of CXCL12 in bone marrow stromal cells cause these hematopoietic alterations.
Graphical Abstract
Bardet-Biedl Syndrome is a pleiotropic genetic disease caused by the dysfunction of primary cilia. BBS is associated with altered hematopoiesis and homeostasis of the immune system in patients and mouse models.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>33426789</pmid><doi>10.15252/embr.202050785</doi><tpages>18</tpages><orcidid>https://orcid.org/0000-0001-8768-9039</orcidid><orcidid>https://orcid.org/0000-0001-9997-5913</orcidid><orcidid>https://orcid.org/0000-0002-9164-9782</orcidid><orcidid>https://orcid.org/0000-0002-2735-3311</orcidid><orcidid>https://orcid.org/0000-0003-1066-9413</orcidid><orcidid>https://orcid.org/0000-0002-4403-1146</orcidid><oa>free_for_read</oa></addata></record> |
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| ispartof | EMBO reports, 2021-02, Vol.22 (2), p.e50785-n/a |
| issn | 1469-221X 1469-3178 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7857422 |
| source | Springer Nature OA Free Journals |
| subjects | Animal models Animals Autoimmune Diseases Bardet-Biedl Syndrome - complications Bardet-Biedl Syndrome - genetics Bardet–Biedl Syndrome Blood Bone marrow Cilia ciliopathy CXCL12 CXCL12 protein Disease Models, Animal EMBO18 EMBO19 EMBO24 Erythrocytes Genetic disorders Hematopoiesis Hematopoiesis - genetics Hematopoietic system Homeostasis Humans Immune system immunity Immunological tolerance Leukocytes Lymphocytes B Mice Microtubule-Associated Proteins - genetics Mutation Obesity Pleiotropy Stromal cells Wnt protein |
| title | Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance |
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