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FältnamnIndikatorerMetadata
00010453naa a2201033 4500
001oai:DiVA.org:uu-421552
003SwePub
008201014s2020 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:144484785
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4215522 URI
0247 a https://doi.org/10.3389/fcell.2020.005672 DOI
0247 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 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 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
2451 0a SLC20A1Is Involved in Urinary Tract and Urorectal Development
264 c 2020-08-07
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a 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
7001 a Zhang, Rongu Rheinische Friedrich Wilhelms Univ Bonn, Univ Klinikum Bonn, Inst Biochem & Mol Biol, Bonn, Germany.4 aut
7001 a Braun, Doreenu Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.4 aut
7001 a Yilmaz, Oeznuru Univ Bonn, Univ Hosp Bonn, Inst Anat & Cell Biol, Bonn, Germany.4 aut
7001 a Japp, Anna S.u Univ Bonn, Inst Neuropathol, Med Ctr, Bonn, Germany.;Univ Hosp Dusseldorf, Inst Pathol, Dusseldorf, Germany.4 aut
7001 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
7001 a Pleschka, Michaelu Univ Hosp Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Univ Hosp Bonn, Inst Anat & Cell Biol, Bonn, Germany.4 aut
7001 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
7001 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
7001 a Newman, William G.u Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Ctr Genom Med, Manchester, Lancs, England.4 aut
7001 a Beaman, Glenda M.u Manchester Univ NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Ctr Genom Med, Manchester, Lancs, England.4 aut
7001 a Nordenskjoeld, Agnetau Karolinska Institutet4 aut
7001 a Ebert, Anne-Karolineu Univ Hosp Ulm, Dept Urol & Pediat Urol, Ulm, Germany.4 aut
7001 a Promm, Martinu Univ Med Ctr Regensburg, Dept Pediat Urol, Clin St Hedwig, Regensburg, Germany.4 aut
7001 a Roesch, Wolfgang H.u Univ Med Ctr Regensburg, Dept Pediat Urol, Clin St Hedwig, Regensburg, Germany.4 aut
7001 a Stein, Raimundu Heidelberg Univ, Univ Med Ctr Mannheim, Med Fac Mannheim, Ctr Pediat Adolescent & Reconstruct Urol, Mannheim, Germany.4 aut
7001 a Hirsch, Karinu Univ Erlangen Nurnberg, Dept Urol, Div Pediat Urol, Erlangen, Germany.4 aut
7001 a Schaefer, Frank-Mattiasu Cnopfsche Kinderklin, Dept Pediat Surg & Urol, Nurnberg, Germany.4 aut
7001 a Schmiedeke, Eberhardu Klinikum Bremen Mitte, Dept Pediat Surg & Urol, Ctr Child & Youth Hlth, Bremen, Germany.4 aut
7001 a Boemers, Thomas M.u Childrens Hosp Cologne, Dept Pediat Surg & Pediat Urol, Cologne, Germany.4 aut
7001 a Lacher, Martinu Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut
7001 a Kluth, Dietrichu Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut
7001 a Gosemann, Jan-Hendriku Univ Leipzig, Dept Pediat Surg, Leipzig, Germany.4 aut
7001 a Anderberg, Magnusu Skane Univ Hosp Lund, Dept Pediat Surg, Lund, Sweden.4 aut
7001 a Barker, Gillianu Uppsala universitet,Barnkirurgisk forskning4 aut0 (Swepub:uu)gibar102
7001 a Holmdahl, Gundelau Karolinska Institutet4 aut
7001 a Läckgren, Göranu Uppsala universitet,Barnkirurgisk forskning4 aut0 (Swepub:uu)goralack
7001 a Keene, Davidu Cent Manchester Univ Hosp NHS Fdn Trust, Royal Manchester Childrens Hosp, Pediat Urol, Manchester, Lancs, England.4 aut
7001 a Cervellione, Raimondo M.u Cent Manchester Univ Hosp NHS Fdn Trust, Royal Manchester Childrens Hosp, Pediat Urol, Manchester, Lancs, England.4 aut
7001 a Giorgio, Elisau Univ Torino, Dept Med Sci, Turin, Italy.;Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy.4 aut
7001 a Di Grazia, Massimou Fdn Ist Ricovero & Cura Carattere Sci Ca Granda O, Pediat Urol Unit, Milan, Italy.4 aut
7001 a Feitz, Wouter F. J.u Radboudumc Amalia Childrens Hosp, Dept Urol, Div Pediat Urol, Nijmegen, Netherlands.4 aut
7001 a Marcelis, Carlo L. M.u Radboud Univ Nijmegen, Dept Genet, Med Ctr, Nijmegen, Netherlands.4 aut
7001 a Van Rooij, Iris A. L. M.u Radboud Univ Nijmegen, Radboud Inst Hlth Sci, Dept Hlth Evidence, Med Ctr, Nijmegen, Netherlands.4 aut
7001 a Boekenkamp, Arendu Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Emma Childrens Hosp, Amsterdam, Netherlands.4 aut
7001 a Beckers, Goedele M. A.u Vrije Univ Amsterdam, Amsterdam Univ Med Ctr, Dept Urol, Amsterdam, Netherlands.4 aut
7001 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
7001 a Sharma, Amitu Univ Hosp Bonn, Dept Neurol, Bonn, Germany.;Univ Hosp Bonn, Dept Ophthalmol, Bonn, Germany.4 aut
7001 a Dakal, Tikam Chandu Mohanlal Sukhadia Univ Udaipur, Dept Biotechnol, Udaipur, Rajasthan, India.4 aut
7001 a Wittler, Larsu Max Planck Inst Mol Genet, Dept Dev Genet, Berlin, Germany.4 aut
7001 a Grote, Phillipu Goethe Univ, Ctr Mol Med, Inst Cardiovasc Regenerat, Frankfurt, Germany.4 aut
7001 a Zwink, Nadineu Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Pediat & Adolescent Psychiat & Psychotherapy, Mainz, Germany.4 aut
7001 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
7001 a Brusco, Alfredou Univ Torino, Dept Med Sci, Turin, Italy.;Citta Salute & Sci Univ Hosp, Med Genet Unit, Turin, Italy.4 aut
7001 a Thiele, Holgeru Univ Cologne, Cologne Ctr Genom, Cologne, Germany.4 aut
7001 a Ludwig, Michaelu Univ Bonn, Dept Clin Chem & Clin Pharmacol, Bonn, Germany.4 aut
7001 a Schweizer, Ulrichu Rheinische Friedrich Wilhelms Univ Bonn, Univ Klinikum Bonn, Inst Biochem & Mol Biol, Bonn, Germany.4 aut
7001 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
7001 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
7001 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
7102 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
7730 t Frontiers in Cell and Developmental Biologyd : FRONTIERS MEDIA SAg 8q 8x 2296-634X
8564 u https://doi.org/10.3389/fcell.2020.00567y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1476290/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://www.frontiersin.org/articles/10.3389/fcell.2020.00567/pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-421552
8564 8u https://doi.org/10.3389/fcell.2020.00567
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:144484785

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