prikaz prve stranice dokumenta Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
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Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
Kidney International, 102 (2022), 2; 405-420. https://doi.org/10.1016/j.kint.2022.04.031
Wopperer, Florian J.; Knaup, Karl X.; Stanzick, Kira J.; Schneider, Karen; Jobst-Schwan, Tilman; Ekici, Arif B.; Uebe, Steffen; Wenzel, Andrea; Schliep, Stefan; Schürfeld, Carsten; Seitz, Randolf; Bernhardt, Wanja; Gödel, Markus; Wiesener, Antje; Popp, Bernt; Stark, Klaus J.; Gröne, Hermann-Josef; Friedrich, Björn; Weiß, Martin; Bašić-Jukić, Nikolina; Schiffer, Mario; Schröppel, Bernd; Huettel, Bruno; Beck, Bodo B.; Sayer, John A.; Ziegler, Christine; Büttner-Herold, Maike; Amann, Kerstin; Heid, Iris M.; Reis, André; Pasutto, Francesca; Wiesener, Michael S. Više autora...

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Wopperer, F. J., Knaup, K. X., Stanzick, K. J., Schneider, K., Jobst Schwan, T., Ekici, A. B. ... Wiesener, M. S. (2022). Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney International, 102. (2), 405-420. doi: 10.1016/j.kint.2022.04.031

Wopperer, Florian J., et al. "Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases." Kidney International, vol. 102, br. 2, 2022, str. 405-420. https://doi.org/10.1016/j.kint.2022.04.031

Wopperer, Florian J., Karl X. Knaup, Kira J. Stanzick, Karen Schneider, Tilman Jobst Schwan, Arif B. Ekici, Steffen Uebe, et al. "Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases." Kidney International 102, br. 2 (2022): 405-420. https://doi.org/10.1016/j.kint.2022.04.031

Wopperer, F. J., et al. (2022) 'Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases', Kidney International, 102(2), str. 405-420. doi: 10.1016/j.kint.2022.04.031

Wopperer FJ, Knaup KX, Stanzick KJ, Schneider K, Jobst Schwan T, Ekici AB, i sur.. Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases. Kidney International [Internet]. 08.2022. [pristupljeno 16.04.2024.];102(2):405-420. doi: 10.1016/j.kint.2022.04.031

F. J. Wopperer, et al., "Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases", Kidney International, vol. 102, br. 2, str. 405-420, Kolovoz 2022. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:876650. [Citirano: 16.04.2024.]

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Naslov (engleski)Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases
AutorFlorian J. Wopperer
AutorKarl X. Knaup
AutorKira J. Stanzick
AutorKaren Schneider
AutorTilman Jobst-Schwan
AutorArif B. Ekici
AutorSteffen Uebe
AutorAndrea Wenzel
AutorStefan Schliep
AutorCarsten Schürfeld
AutorRandolf Seitz
AutorWanja Bernhardt
AutorMarkus Gödel
AutorAntje Wiesener
AutorBernt Popp
AutorKlaus J. Stark
AutorHermann-Josef Gröne
AutorBjörn Friedrich
AutorMartin Weiß
AutorNikolina Bašić-Jukić
AutorMario Schiffer
AutorBernd Schröppel
AutorBruno Huettel
AutorBodo B. Beck
AutorJohn A. Sayer
AutorChristine Ziegler
AutorMaike Büttner-Herold
AutorKerstin Amann
AutorIris M. Heid
AutorAndré Reis
AutorFrancesca Pasutto
AutorMichael S. Wiesener
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA INTERNU MEDICINU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Interna medicina
Sažetak (engleski)
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout the literature, variable numbers of families have been reported, where no mutation can be found and therefore termed ADTKD-not otherwise specified. Here, we aim to clarify the genetic cause of their diseases in our ADTKD registry. Sequencing for all known ADTKD genes was performed, followed by SNaPshot minisequencing for the dupC (an additional cytosine within a stretch of seven cytosines) mutation of MUC1. A virtual panel containing 560 genes reported in the context of kidney disease (nephrome) and exome sequencing were then analyzed sequentially. Variants were validated and tested for segregation. In 29 of the 45 registry families, mutations in known ADTKD genes were found, mostly in MUC1. Sixteen families could then be termed ADTKD-not otherwise specified, of which nine showed diagnostic variants in the nephrome (four in COL4A5, two in INF2 and one each in COL4A4, PAX2, SALL1 and PKD2). In the other seven families, exome sequencing analysis yielded potential disease associated variants in novel candidate genes for ADTKD; evaluated by database analyses and genome-wide association studies. For the great majority of our ADTKD registry we were able to reach a molecular genetic diagnosis. However, a small number of families are indeed affected by diseases classically described as a glomerular entity. Thus, incomplete clinical phenotyping and atypical clinical presentation may have led to the classification of ADTKD. The identified novel candidate genes by exome sequencing will require further functional validation.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaKidney International
Brojčani podacivol. 102, br. 2, str. 405-420
p-ISSN0085-2538
DOIhttps://doi.org/10.1016/j.kint.2022.04.031
URN:NBNurn:nbn:hr:105:876650
Datum objave publikacije2022-08
URL dokumentahttps://linkinghub.elsevier.com/retrieve/pii/S0085253822003842
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje-Nekomercijalno-Bez prerada 4.0 međunarodna (CC BY-NC-ND 4.0)
Datum i vrijeme pohrane2022-12-08 08:24:16