Sökning: WFRF:(Marcelis Carlo) > SLC20A1Is Involved ...
Fältnamn | Indikatorer | Metadata |
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000 | 10453naa a2201033 4500 | |
001 | oai:DiVA.org:uu-421552 | |
003 | SwePub | |
008 | 201014s2020 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:144484785 | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4215522 URI |
024 | 7 | a https://doi.org/10.3389/fcell.2020.005672 DOI |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1444847852 URI |
040 | a (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Rieke, Johanna Magdalenau Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Univ Hosp Bonn, Inst Anat & Cell Biol, Bonn, Germany.;Univ Hosp Bonn, Childrens Hosp, Dept Pediat, Med Ctr, Bonn, Germany.4 aut |
245 | 1 0 | a SLC20A1Is Involved in Urinary Tract and Urorectal Development |
264 | c 2020-08-07 | |
264 | 1 | b FRONTIERS MEDIA SA,c 2020 |
338 | a electronic2 rdacarrier | |
520 | a Previous studies in developingXenopusand zebrafish reported that the phosphate transporterslc20a1ais expressed in pronephric kidneys. The recent identification ofSLC20A1as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role ofSLC20A1in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish orthologslc20a1a. This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detectedSLC20A1in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequencedSLC20A1in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelicde novovariants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novelde novovariant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact ofSLC20A1variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggestSLC20A1is involved in urinary tract and urorectal development and implicateSLC20A1as a disease-gene for BEEC. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng |
653 | a urinary tract development | |
653 | a kidney formation | |
653 | a zebrafish development | |
653 | a cloacal malformation | |
653 | a functional genetics | |
653 | a CAKUT | |
653 | a bladder exstrophy-epispadias complex | |
700 | 1 | a Zhang, Rongu Rheinische Friedrich Wilhelms Univ Bonn, Univ Klinikum Bonn, Inst Biochem & Mol Biol, Bonn, Germany.4 aut |
700 | 1 | a Braun, Doreenu Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.4 aut |
700 | 1 | a Yilmaz, Oeznuru Univ Bonn, Univ Hosp Bonn, Inst Anat & Cell Biol, Bonn, Germany.4 aut |
700 | 1 | a Japp, Anna S.u Univ Bonn, Inst Neuropathol, Med Ctr, Bonn, Germany.;Univ Hosp Dusseldorf, Inst Pathol, Dusseldorf, Germany.4 aut |
700 | 1 | a Lopes, Filipa M.u Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Cell Matrix Biol & Regenerat Med, Manchester, Lancs, England.4 aut |
700 | 1 | a Pleschka, Michaelu Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Univ Hosp Bonn, Inst Anat & Cell Biol, Bonn, Germany.4 aut |
700 | 1 | a Hilger, Alina C.u Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Childrens Hosp, Dept Pediat, Med Ctr, Bonn, Germany.4 aut |
700 | 1 | a Schneider, Sophiau Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Childrens Hosp, Dept Neonatol & Pediat Intens Care, Med Ctr, Bonn, Germany.4 aut |
700 | 1 | a Newman, William G.u Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Ctr Genom Med, Manchester, Lancs, England.4 aut |
700 | 1 | a Beaman, Glenda M.u Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Ctr Genom Med, Manchester, Lancs, England.4 aut |
700 | 1 | a Nordenskjoeld, Agnetau Karolinska Institutet4 aut |
700 | 1 | a Ebert, Anne-Karolineu Univ Hosp Ulm, Dept Urol & Pediat Urol, Ulm, Germany.4 aut |
700 | 1 | a Promm, Martinu Univ Med Ctr Regensburg, Dept Pediat Urol, Clin St Hedwig, Regensburg, Germany.4 aut |
700 | 1 | a Roesch, Wolfgang H.u Univ Med Ctr Regensburg, Dept Pediat Urol, Clin St Hedwig, Regensburg, Germany.4 aut |
700 | 1 | a Stein, Raimundu Heidelberg Univ, Univ Med Ctr Mannheim, Med Fac Mannheim, Ctr Pediat Adolescent & Reconstruct Urol, Mannheim, Germany.4 aut |
700 | 1 | a Hirsch, Karinu Univ Erlangen Nurnberg, Dept Urol, Div Pediat Urol, Erlangen, Germany.4 aut |
700 | 1 | a Schaefer, Frank-Mattiasu Cnopfsche Kinderklin, Dept Pediat Surg & Urol, Nurnberg, Germany.4 aut |
700 | 1 | a Schmiedeke, Eberhardu Klinikum Bremen Mitte, Dept Pediat Surg & Urol, Ctr Child & Youth Hlth, Bremen, Germany.4 aut |
700 | 1 | a Boemers, Thomas M.u Childrens Hosp Cologne, Dept Pediat Surg & Pediat Urol, Cologne, Germany.4 aut |
700 | 1 | a Lacher, Martinu Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut |
700 | 1 | a Kluth, Dietrichu Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut |
700 | 1 | a Gosemann, Jan-Hendriku Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut |
700 | 1 | a Anderberg, Magnusu Skane Univ Hosp Lund, Dept Pediat Surg, Lund, Sweden.4 aut |
700 | 1 | a Barker, Gillianu Uppsala universitet,Barnkirurgisk forskning4 aut0 (Swepub:uu)gibar102 |
700 | 1 | a Holmdahl, Gundelau Karolinska Institutet4 aut |
700 | 1 | a Läckgren, Göranu Uppsala universitet,Barnkirurgisk forskning4 aut0 (Swepub:uu)goralack |
700 | 1 | a Keene, Davidu Cent Manchester Univ Hosp NHS Fdn Trust, Royal Manchester Childrens Hosp, Pediat Urol, Manchester, Lancs, England.4 aut |
700 | 1 | a Cervellione, Raimondo M.u Cent Manchester Univ Hosp NHS Fdn Trust, Royal Manchester Childrens Hosp, Pediat Urol, Manchester, Lancs, England.4 aut |
700 | 1 | a Giorgio, Elisau Univ Torino, Dept Med Sci, Turin, Italy.;Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy.4 aut |
700 | 1 | a Di Grazia, Massimou Fdn Ist Ricovero & Cura Carattere Sci Ca Granda O, Pediat Urol Unit, Milan, Italy.4 aut |
700 | 1 | a Feitz, Wouter F. J.u Radboudumc Amalia Childrens Hosp, Dept Urol, Div Pediat Urol, Nijmegen, Netherlands.4 aut |
700 | 1 | a Marcelis, Carlo L. M.u Radboud Univ Nijmegen, Dept Genet, Med Ctr, Nijmegen, Netherlands.4 aut |
700 | 1 | a Van Rooij, Iris A. L. M.u Radboud Univ Nijmegen, Radboud Inst Hlth Sci, Dept Hlth Evidence, Med Ctr, Nijmegen, Netherlands.4 aut |
700 | 1 | a Boekenkamp, Arendu Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Amsterdam, Netherlands.4 aut |
700 | 1 | a Beckers, Goedele M. A.u Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Urol, Amsterdam, Netherlands.4 aut |
700 | 1 | a Keegan, Catherine E.u Univ Michigan, Dept Pediat, Div Genet, Ann Arbor, MI 48109 USA.;Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA.4 aut |
700 | 1 | a Sharma, Amitu Univ Hosp Bonn, Dept Neurol, Bonn, Germany.;Univ Hosp Bonn, Dept Ophthalmol, Bonn, Germany.4 aut |
700 | 1 | a Dakal, Tikam Chandu Mohanlal Sukhadia Univ Udaipur, Dept Biotechnol, Udaipur, Rajasthan, India.4 aut |
700 | 1 | a Wittler, Larsu Max Planck Inst Mol Genet, Dept Dev Genet, Berlin, Germany.4 aut |
700 | 1 | a Grote, Phillipu Goethe Univ, Ctr Mol Med, Inst Cardiovasc Regenerat, Frankfurt, Germany.4 aut |
700 | 1 | a Zwink, Nadineu Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Pediat & Adolescent Psychiat & Psychotherapy, Mainz, Germany.4 aut |
700 | 1 | a Jenetzky, Ekkehartu Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Pediat & Adolescent Psychiat & Psychotherapy, Mainz, Germany.;Witten Herdecke Univ, Inst Integrat Med, Herdecke, Germany.4 aut |
700 | 1 | a Brusco, Alfredou Univ Torino, Dept Med Sci, Turin, Italy.;Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy.4 aut |
700 | 1 | a Thiele, Holgeru Univ Cologne, Cologne Ctr Genom, Cologne, Germany.4 aut |
700 | 1 | a Ludwig, Michaelu Univ Bonn, Dept Clin Chem & Clin Pharmacol, Bonn, Germany.4 aut |
700 | 1 | a Schweizer, Ulrichu Rheinische Friedrich Wilhelms Univ Bonn, Univ Klinikum Bonn, Inst Biochem & Mol Biol, Bonn, Germany.4 aut |
700 | 1 | a Woolf, Adrian S.u Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Cell Matrix Biol & Regenerat Med, Manchester, Lancs, England.;Manchester Univ NHS Fdn Trust, Royal Manchester Childrens Hosp, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England.4 aut |
700 | 1 | a Odermatt, Benjaminu Univ Bonn, Univ Hosp Bonn, Inst Anat & Cell Biol, Bonn, Germany.;Univ Bonn, Univ Hosp Bonn, Inst Neuroanat, Bonn, Germany.4 aut |
700 | 1 | a Reutter, Heikou Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.;Univ Hosp Bonn, Childrens Hosp, Dept Neonatol & Pediat Intens Care, Med Ctr, Bonn, Germany.4 aut |
710 | 2 | a Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Univ Hosp Bonn, Inst Anat & Cell Biol, Bonn, Germany.;Univ Hosp Bonn, Childrens Hosp, Dept Pediat, Med Ctr, Bonn, Germany.b Rheinische Friedrich Wilhelms Univ Bonn, Univ Klinikum Bonn, Inst Biochem & Mol Biol, Bonn, Germany.4 org |
773 | 0 | t Frontiers in Cell and Developmental Biologyd : FRONTIERS MEDIA SAg 8q 8x 2296-634X |
856 | 4 | u https://doi.org/10.3389/fcell.2020.00567y Fulltext |
856 | 4 | u https://uu.diva-portal.org/smash/get/diva2:1476290/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print |
856 | 4 | u https://www.frontiersin.org/articles/10.3389/fcell.2020.00567/pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-421552 |
856 | 4 8 | u https://doi.org/10.3389/fcell.2020.00567 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:144484785 |
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