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Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Among authors: konig j. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 Free PMC article.
Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases.
Ziegler WH, Lüdiger S, Hassan F, Georgiadis ME, Swolana K, Khera A, Mertens A, Franke D, Wohlgemuth K, Dahmer-Heath M, König J, Dafinger C, Liebau MC, Cetiner M, Bergmann C, Soetje B, Haffner D. Ziegler WH, et al. Among authors: konig j. Orphanet J Rare Dis. 2022 Mar 9;17(1):122. doi: 10.1186/s13023-022-02265-1. Orphanet J Rare Dis. 2022. PMID: 35264234 Free PMC article.
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck BB, Altmüller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M. Schlingmann KP, et al. Among authors: konig j. Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004. Am J Hum Genet. 2018. PMID: 30388404 Free PMC article.
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. Schlingmann KP, et al. Among authors: konig j. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4. J Am Soc Nephrol. 2021. PMID: 34607910 Free PMC article.
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
König JC, Karsay R, Gerß J, Schlingmann KP, Dahmer-Heath M, Telgmann AK, Kollmann S, Ariceta G, Gillion V, Bockenhauer D, Bertholet-Thomas A, Mastrangelo A, Boyer O, Lilien M, Decramer S, Schanstra JP, Pohl M, Schild R, Weber S, Hoefele J, Drube J, Cetiner M, Hansen M, Thumfart J, Tönshoff B, Habbig S, Liebau MC, Bald M, Bergmann C, Pennekamp P, Konrad M; NEOCYST consortium. König JC, et al. Kidney Int Rep. 2022 Jun 16;7(9):2016-2028. doi: 10.1016/j.ekir.2022.05.035. eCollection 2022 Sep. Kidney Int Rep. 2022. PMID: 36090483 Free PMC article.
Development of an Interactive Dashboard for OSSE Rare Disease Registries.
Vasseur J, Zieschank A, Göbel J, Schaaf J, Dahmer-Heath M, König J, Kadioglu D, Storf H. Vasseur J, et al. Among authors: konig j. Stud Health Technol Inform. 2022 May 16;293:187-188. doi: 10.3233/SHTI220367. Stud Health Technol Inform. 2022. PMID: 35592980
[No title available]
[No authors listed] [No authors listed] PMID: 32337584
925 results