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Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2295::9c68427d582e2c74b36f82524843b75a
http://www.manchester.ac.uk/escholar/uk-ac-man-scw:262860
http://www.manchester.ac.uk/escholar/uk-ac-man-scw:262860
Autor:
Khundadze M; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Ribaudo F; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Hussain A; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Stahlberg H; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Brocke-Ahmadinejad N; Core Facility Mass Spectrometry, Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Franzka P; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Varga RE; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Zarkovic M; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Pungsrinont T; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Kokal M; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany., Ganley IG; MRC Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, Scotland., Beetz C; Institute of Clinical Chemistry, University Hospital Jena, Friedrich-Schiller-University Jena, Germany; Current Affiliation: Centogene GmbH, Rostock, Germany., Sylvester M; Core Facility Mass Spectrometry, Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Hübner CA; Institute of Human Genetics, University Hospital Jena, Friedrich-Schiller-University Jena, Jena, Germany.
Publikováno v:
Autophagy [Autophagy] 2021 Nov; Vol. 17 (11), pp. 3690-3706. Date of Electronic Publication: 2021 Mar 09.
Autor:
Varga RE; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany; Institute of Clinical Chemistry, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Khundadze M; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Damme M; Biochemical Institute, University of Kiel, Kiel, Germany., Nietzsche S; Electron Microscopy Center, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Hoffmann B; Biomolecular Photonics Group, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Stauber T; Leibniz-Institut für Molekulare Pharmakologie (FMP) und Max-Delbrück Centrum für Molekulare Medizin (MDC), Berlin, Germany., Koch N; Institute of Biochemistry I, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Hennings JC; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Franzka P; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Huebner AK; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Kessels MM; Institute of Biochemistry I, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Biskup C; Biomolecular Photonics Group, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Jentsch TJ; Leibniz-Institut für Molekulare Pharmakologie (FMP) und Max-Delbrück Centrum für Molekulare Medizin (MDC), Berlin, Germany., Qualmann B; Institute of Biochemistry I, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Braulke T; Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kurth I; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Beetz C; Institute of Clinical Chemistry, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany., Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich-Schiller-University Jena, Jena, Germany.
Publikováno v:
PLoS genetics [PLoS Genet] 2015 Aug 18; Vol. 11 (8), pp. e1005454. Date of Electronic Publication: 2015 Aug 18 (Print Publication: 2015).
Autor:
Stuart HM; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Roberts NA; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Hilton EN; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, McKenzie EA; Faculty of Life Sciences and., Daly SB; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Hadfield KD; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Rahal JS; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Gardiner NJ; Faculty of Life Sciences and., Tanley SW; Faculty of Engineering and Physical Sciences, University of Manchester, Manchester, United Kingdom;, Lewis MA; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Sites E; Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois;, Angle B; Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois;, Alves C; Genetica Med. e Diagnostico Pre-Natal, Prof. Sergio Castedo, S.A., Porto, Portugal;, Lourenço T; Department of Medical Genetics, Hospital de Dona Estefânia, Lisboa, Portugal;, Rodrigues M; Department of Medical Genetics, Hospital de Dona Estefânia, Lisboa, Portugal;, Calado A; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Amado M; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Guerreiro N; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Serras I; Department of Pediatrics, Centro Hospitalar do Barlavento Algarvio, Portimão, Portugal;, Beetz C; Faculty of Life Sciences and Faculty of Life Sciences and., Varga RE; Faculty of Life Sciences and Faculty of Life Sciences and., Silay MS; Department of Urology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey;, Darlow JM; National Centre for Medical Genetics and National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Dobson MG; National Centre for Medical Genetics and National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Barton DE; National Centre for Medical Genetics and School of Medicine and Medical Sciences and., Hunziker M; National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland;, Puri P; National Children's Research Centre, Our Lady's Children's Hospital, Dublin, Ireland; School of Medicine and Medical Sciences and Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland;, Feather SA; Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom;, Goodship JA; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Goodship TH; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Lambert HJ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Cordell HJ; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom;, Saggar A; Department of Clinical Genetics, St George's, University of London, London, United Kingdom;, Kinali M; Department of Paediatric Neurology, Chelsea and Westminster Hospital and Imperial College London, and Bupa Cromwell Hospital, London, United Kingdom;, Lorenz C; Department of Pediatric Surgery and Urology, Klinikum Bremen-Mitte, Bremen, Germany;, Moeller K; Department of Pediatrics, Klinikum Links der Weser, Bremen, Germany;, Schaefer F; Division of Paediatric Nephrology, Centre for Paediatric and Adolescent Medicine, University Hospital of Heidelberg, Im Neuenheimer Feld, Heidelberg, Germany;, Bayazit AK; Pediatric Nephrology, Cukurova University School of Medicine, Adana, Turkey; and., Weber S; Pediatrics II, University Children's Hospital Essen, Essen, Germany., Newman WG; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom;, Woolf AS; Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre and the Royal Manchester Children's and St Mary's Hospitals, Manchester, United Kingdom; adrian.woolf@manchester.ac.uk.
Publikováno v:
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2015 Apr; Vol. 26 (4), pp. 797-804. Date of Electronic Publication: 2014 Aug 21.
Autor:
Varga RE; Department of Clinical Chemistry, Jena University Hospital, Jena, Germany., Schüle R, Fadel H, Valenzuela I, Speziani F, Gonzalez M, Rudenskaia G, Nürnberg G, Thiele H, Altmüller J, Alvarez V, Gamez J, Garbern JY, Nürnberg P, Zuchner S, Beetz C
Publikováno v:
Human mutation [Hum Mutat] 2013 Jun; Vol. 34 (6), pp. 860-3. Date of Electronic Publication: 2013 Apr 05.
Autor:
Beetz C; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, 07747 Jena, Germany., Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2013 Mar 26; Vol. 110 (13), pp. 5091-6. Date of Electronic Publication: 2013 Mar 11.
Autor:
Stuart HM; Centre for Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester, UK., Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2013 Feb 07; Vol. 92 (2), pp. 259-64. Date of Electronic Publication: 2013 Jan 11.
Autor:
Beetz C; Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Germany., Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2012 Jul 13; Vol. 91 (1), pp. 139-45. Date of Electronic Publication: 2012 Jun 14.
Autor:
Kiehntopf M; Institut für Klinische Chemie und Laboratoriumsdiagnostik, Uniklinikum Jena, Jena, Germany., Varga RE, Koch HG, Beetz C
Publikováno v:
Gene [Gene] 2012 Mar 01; Vol. 495 (1), pp. 89-92. Date of Electronic Publication: 2011 Dec 24.
Autor:
Varga RE; Department of Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Jena, Germany., Mumtaz R, Jahic A, Rudenskaya GE, Sánchez-Ferrero E, Auer-Grumbach M, Hübner CA, Beetz C
Publikováno v:
Analytical biochemistry [Anal Biochem] 2012 Feb 15; Vol. 421 (2), pp. 799-801. Date of Electronic Publication: 2011 Dec 09.