Literature DB >> 32828237

Autosomal dominant tubulointerstitial kidney disease: a new tool to guide genetic testing.

Kaice A LaFavers1, Tarek M El-Achkar2.   

Abstract

Autosomal dominant tubulointerstitial disease (ADTKD) is a dominantly inherited progressive nonglomerular disease. Several factors, such as a nonspecific clinical presentation and relative rarity, impede the phenotyping of ADTKD into clinically relevant subtypes and impair the appropriate implementation of genetic testing. The study by Olinger et al. describes the largest multicenter ADTKD cohort, which is likely to become a key resource. The authors also provide a new clinical tool that could guide diagnosis and genetic testing. Published by Elsevier Inc.

Entities:  

Year:  2020        PMID: 32828237      PMCID: PMC8063263          DOI: 10.1016/j.kint.2020.05.046

Source DB:  PubMed          Journal:  Kidney Int        ISSN: 0085-2538            Impact factor:   10.612


  9 in total

Review 1.  Autosomal dominant tubulointerstitial kidney disease.

Authors:  Olivier Devuyst; Eric Olinger; Stefanie Weber; Kai-Uwe Eckardt; Stanislav Kmoch; Luca Rampoldi; Anthony J Bleyer
Journal:  Nat Rev Dis Primers       Date:  2019-09-05       Impact factor: 52.329

Review 2.  Uromodulin (Tamm-Horsfall protein): guardian of urinary and systemic homeostasis.

Authors:  Radmila Micanovic; Kaice LaFavers; Pranav S Garimella; Xue-Ru Wu; Tarek M El-Achkar
Journal:  Nephrol Dial Transplant       Date:  2020-01-01       Impact factor: 5.992

3.  Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis.

Authors:  Bryce G Johnson; Lan T Dang; Graham Marsh; Allie M Roach; Zebulon G Levine; Anthony Monti; Deepak Reyon; Lionel Feigenbaum; Jeremy S Duffield
Journal:  J Clin Invest       Date:  2017-10-09       Impact factor: 14.808

4.  Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.

Authors:  Moran Dvela-Levitt; Maria Kost-Alimova; Maheswarareddy Emani; Eva Kohnert; Rebecca Thompson; Eriene-Heidi Sidhom; Ana Rivadeneira; Nareh Sahakian; Julie Roignot; Gregory Papagregoriou; Monica S Montesinos; Abbe R Clark; David McKinney; Juan Gutierrez; Mark Roth; Lucienne Ronco; Esther Elonga; Todd A Carter; Andreas Gnirke; Michelle Melanson; Kate Hartland; Nicolas Wieder; Jane C-H Hsu; Constantinos Deltas; Rebecca Hughey; Anthony J Bleyer; Stanislav Kmoch; Martina Živná; Veronika Barešova; Savithri Kota; Johannes Schlondorff; Myriam Heiman; Seth L Alper; Florence Wagner; Astrid Weins; Todd R Golub; Eric S Lander; Anna Greka
Journal:  Cell       Date:  2019-07-25       Impact factor: 41.582

5.  Circulating uromodulin inhibits systemic oxidative stress by inactivating the TRPM2 channel.

Authors:  Kaice A LaFavers; Etienne Macedo; Pranav S Garimella; Camila Lima; Shehnaz Khan; Jered Myslinski; Jeanette McClintick; Frank A Witzmann; Seth Winfree; Carrie L Phillips; Takashi Hato; Pierre C Dagher; Xue-Ru Wu; Tarek M El-Achkar; Radmila Micanovic
Journal:  Sci Transl Med       Date:  2019-10-02       Impact factor: 17.956

6.  Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Authors:  Kai-Uwe Eckardt; Seth L Alper; Corinne Antignac; Anthony J Bleyer; Dominique Chauveau; Karin Dahan; Constantinos Deltas; Andrew Hosking; Stanislav Kmoch; Luca Rampoldi; Michael Wiesener; Matthias T Wolf; Olivier Devuyst
Journal:  Kidney Int       Date:  2015-03-04       Impact factor: 10.612

7.  Membrane targeting and secretion of mutant uromodulin in familial juvenile hyperuricemic nephropathy.

Authors:  Paul Jennings; Sonia Aydin; Peter Kotanko; Judith Lechner; Karl Lhotta; Sian Williams; Rajesh V Thakker; Walter Pfaller
Journal:  J Am Soc Nephrol       Date:  2006-12-06       Impact factor: 10.121

8.  Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.

Authors:  Eric Olinger; Patrick Hofmann; Kendrah Kidd; Inès Dufour; Hendrica Belge; Céline Schaeffer; Anne Kipp; Olivier Bonny; Constantinos Deltas; Nathalie Demoulin; Thomas Fehr; Daniel G Fuster; Daniel P Gale; Eric Goffin; Kateřina Hodaňová; Uyen Huynh-Do; Andreas Kistler; Johann Morelle; Gregory Papagregoriou; Yves Pirson; Richard Sandford; John A Sayer; Roser Torra; Christina Venzin; Reto Venzin; Bruno Vogt; Martina Živná; Anna Greka; Karin Dahan; Luca Rampoldi; Stanislav Kmoch; Anthony J Bleyer; Olivier Devuyst
Journal:  Kidney Int       Date:  2020-05-22       Impact factor: 10.612

9.  Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations.

Authors:  Matteo Trudu; Celine Schaeffer; Michela Riba; Masami Ikehata; Paola Brambilla; Piergiorgio Messa; Filippo Martinelli-Boneschi; Maria Pia Rastaldi; Luca Rampoldi
Journal:  Sci Rep       Date:  2017-08-07       Impact factor: 4.379

  9 in total
  1 in total

1.  Novel Dent disease 1 cellular models reveal biological processes underlying ClC-5 loss-of-function.

Authors:  Mónica Durán; Carla Burballa; Gerard Cantero-Recasens; Cristian M Butnaru; Vivek Malhotra; Gema Ariceta; Eduard Sarró; Anna Meseguer
Journal:  Hum Mol Genet       Date:  2021-07-09       Impact factor: 6.150

  1 in total

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