The 2019 and 2021 International Workshops on Alport Syndrome.
| Title: | The 2019 and 2021 International Workshops on Alport Syndrome. |
|---|---|
| Authors: | Daga S; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Ding J; Peking University First Hospital, Beijing, China.; Deltas C; Biobank.cy Center of Excellence in Biobanking and Biomedical Research and University of Cyprus Medical School, Nicosia, Cyprus.; Savige J; Department of Medicine, Melbourne and Northern Health, The University of Melbourne, Parkville, VIC, 3050, Australia.; Lipska-Ziętkiewicz BS; Rare Diseases Centre, Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdansk, Poland.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine, Munich, Germany.; Flinter F; Department of Clinical Genetics, Guys' and St Thomas' NHS Foundation Trust, London, UK.; Gale DP; Department of Renal Medicine, University College London, London, UK.; Rare Renal Disease Registry, UK Renal Registry, Bristol, UK.; Aksenova M; Y. Veltischev Research and Clinical Institute for Pediatrics at the Pirogov Russian National Research Medical University, Taldomskaya Street, 2, Moscow, 125412, Russia.; Kai H; Department of Molecular Medicine, Kumamoto University, Kumamoto, Japan.; Perin L; GOFARR Laboratory for Organ Regenerative Research and Cell Therapeutics in Urology, Saban Research Institute, Division of Urology, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Department of Urology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.; Barua M; Toronto General Hospital, Toronto General Research Institute, University of Toronto, Toronto, ON, Canada.; Torra R; Inherited Kidney Diseases, Nephrology Department, Fundació Puigvert, IIB-Sant Pau, Medicine Department, Universitat Autónoma de Barcelona, Barcelona, Spain.; Miner JH; Division of Nephrology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Massella L; Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Ljubanović DG; University of Zagreb School of Medicine, Department of Pathology and Department of Nephropathology and Electron Microscopy Dubrava University Hospital, Zagreb, Croatia.; Lennon R; Wellcome Centre for Cell-Matrix Research, Division of Cell-Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Weinstock AB; Alport Syndrome Foundation, Phoenix, AZ, USA.; Knebelmann B; Nephrology Department, Reference Center for Inherited Kidney Diseases (MARHEA), APHP, Necker Hospital, Paris University, Paris, France.; Cerkauskaite A; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.; Gear S; Alport UK, Tetbury, UK.; Gross O; Department of Nephrology and Rheumatology, University Medicine Goettingen, Gottingen, Germany.; Turner AN; Centre for Inflammation, University of Edinburgh, Edinburgh, UK.; Baldassarri M; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Pinto AM; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.; Renieri A; Medical Genetics, University of Siena, Siena, Italy. alessandra.renieri@unisi.it.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy. alessandra.renieri@unisi.it.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy. alessandra.renieri@unisi.it. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2022 May; Vol. 30 (5), pp. 507-516. Date of Electronic Publication: 2022 Mar 09. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural |
| Language: | English |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Imprint Name(s): | Publication: : London : Nature Publishing Group; Original Publication: Basel ; New York : Karger, [1992- |
| MeSH Terms: | Nephritis, Hereditary*/diagnosis ; Nephritis, Hereditary*/genetics ; Nephritis, Hereditary*/therapy; Collagen Type IV ; Female ; Humans ; Male |
| Comments: | Erratum in: Eur J Hum Genet. 2024 Jan;32(1):130. doi: 10.1038/s41431-023-01286-z.. (PMID: 36690832) |
| References: | Kidney Int. 2020 Jun;97(6):1275-1286. (PMID: 32299679); Nephrol Dial Transplant. 2022 Nov 23;37(12):2496-2504. (PMID: 35022790); J Clin Med. 2021 Jun 30;10(13):. (PMID: 34209341); Pediatr Nephrol. 2015 Sep;30(9):1459-65. (PMID: 25739341); Cell Chem Biol. 2018 May 17;25(5):634-643.e4. (PMID: 29526710); N Engl J Med. 2021 Aug 05;385(6):493-502. (PMID: 34215024); Clin Exp Nephrol. 2017 Oct;21(5):877-883. (PMID: 27796712); J Am Soc Nephrol. 2003 Oct;14(10):2603-10. (PMID: 14514738); Nephrol Dial Transplant. 2009 Sep;24(9):2721-9. (PMID: 19357112); Clin Genet. 2021 Jan;99(1):143-156. (PMID: 33040356); Clin Kidney J. 2020 Feb 10;13(6):1025-1036. (PMID: 33391746); J Med Genet. 2015 Mar;52(3):163-74. (PMID: 25575550); N Engl J Med. 2016 Jul 28;375(4):323-34. (PMID: 27299675); Nat Genet. 2014 Nov;46(11):1187-96. (PMID: 25305756); Am J Transl Res. 2021 Aug 15;13(8):9086-9094. (PMID: 34540022); N Engl J Med. 2020 Oct 8;383(15):1436-1446. (PMID: 32970396); Nephron. 2015;130(4):271-80. (PMID: 26201269); Kidney Int Rep. 2021 Mar 03;6(5):1326-1335. (PMID: 34013111); Kidney Int. 2021 Jun;99(6):1451-1458. (PMID: 33309955); PLoS One. 2017 Mar 23;12(3):e0174274. (PMID: 28334007); N Engl J Med. 2019 Jan 10;380(2):142-151. (PMID: 30586318); Front Med (Lausanne). 2020 Nov 23;7:580376. (PMID: 33330536); Hum Mutat. 2018 Feb;39(2):302-314. (PMID: 29098738); Kidney Int. 2021 Jan;99(1):102-116. (PMID: 32818518); Clin J Am Soc Nephrol. 2019 Feb 7;14(2):213-223. (PMID: 30647093); J Am Soc Nephrol. 2007 Nov;18(11):3004-16. (PMID: 17942953); Am J Kidney Dis. 2021 Dec;78(6):857-864. (PMID: 34245817); Pediatr Nephrol. 2013 Jan;28(1):5-11. (PMID: 22461141); J Am Soc Nephrol. 2009 Jul;20(7):1471-9. (PMID: 19423686); J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. (PMID: 34400539); Genes (Basel). 2020 Nov 20;11(11):. (PMID: 33233744); Nephrol Dial Transplant. 2007 Apr;22(4):1062-9. (PMID: 17287218); Kidney Int Rep. 2019 Sep 11;5(1):103-108. (PMID: 31922066); Eur J Hum Genet. 2021 Aug;29(8):1186-1197. (PMID: 33854215); Eur J Hum Genet. 2012 Jun;20(6):. (PMID: 22166944); Pediatr Nephrol. 2021 Mar;36(3):711-719. (PMID: 33159213); Front Pediatr. 2019 Nov 26;7:485. (PMID: 31850286); Sci Rep. 2021 Sep 10;11(1):18097. (PMID: 34508137); PLoS One. 2016 Sep 14;11(9):e0161802. (PMID: 27627812); Kidney Int. 2020 Dec;98(6):1605-1614. (PMID: 32712167); Am J Nephrol. 2021;52(3):180-189. (PMID: 33789284); Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv124-30. (PMID: 25165179); Cells. 2021 Jul 18;10(7):. (PMID: 34359984); N Engl J Med. 2020 Dec 03;383(23):2219-2229. (PMID: 33264825); Eur J Med Res. 2021 Jul 8;26(1):71. (PMID: 34238373); Pediatr Nephrol. 2012 Apr;27(4):675-9. (PMID: 22228437); Clin Genet. 2017 Jul;92(1):34-44. (PMID: 27859054); Eur J Hum Genet. 2020 Apr;28(4):480-490. (PMID: 31754267); Mol Genet Genomic Med. 2019 Jun;7(6):e653. (PMID: 30968591); Kidney Int Rep. 2020 Apr 24;5(7):1075-1078. (PMID: 32647767); BMC Nephrol. 2018 May 16;19(1):114. (PMID: 29764427); Nephrol Dial Transplant. 2014 May;29(5):1012-9. (PMID: 24198271); Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. (PMID: 33838161); Kidney360. 2021 Dec 1;3(4):687-699. (PMID: 35721612); J Med Genet. 1992 May;29(5):352-3. (PMID: 1349924) |
| Grant Information: | R01 DK121037 United States DK NIDDK NIH HHS; R01 DK123234 United States DK NIDDK NIH HHS |
| Substance Nomenclature: | 0 (Collagen Type IV) |
| Entry Date(s): | Date Created: 20220309 Date Completed: 20220512 Latest Revision: 20240923 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC8904161 |
| DOI: | 10.1038/s41431-022-01075-0 |
| PMID: | 35260866 |
| Database: | MEDLINE |
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural