Literature DB >> 33268504

Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis.

Alice Doreille1,2, Laure Raymond3, Anne-Sophie Lebre4, Charel Linster5, Radoslava Saraeva Lamri3, Alexandre Karras5, Rateb Khayat6, Pierre-Antoine Michel6, David Buob2,7,8, Yosu Luque1,2,8, Cédric Rafat1, Laurent Mesnard9,2,8,10.   

Abstract

Entities:  

Keywords:  ciliopathy; clinical hypertension; genetic renal disease; hypertension; nephrosclerosis; whole exome sequencing

Mesh：

Year:  2020        PMID： 33268504      PMCID： PMC8092057          DOI： 10.2215/CJN.11890720

Source DB:  PubMed          Journal:  Clin J Am Soc Nephrol        ISSN： 1555-9041            Impact factor:   8.237


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  5 in total

1.  Dopamine receptor type 5 in the primary cilia has dual chemo- and mechano-sensory roles.

Authors:  Shakila Abdul-Majeed; Surya M Nauli
Journal:  Hypertension       Date:  2011-06-27       Impact factor: 10.190

Review 2.  Genes and molecular pathways underpinning ciliopathies.

Authors:  Jeremy F Reiter; Michel R Leroux
Journal:  Nat Rev Mol Cell Biol       Date:  2017-07-12       Impact factor: 94.444

3.  A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

Authors:  Evelyne Huynh Cong; Albane A Bizet; Olivia Boyer; Stéphanie Woerner; Olivier Gribouval; Emilie Filhol; Christelle Arrondel; Sophie Thomas; Flora Silbermann; Guillaume Canaud; Jamil Hachicha; Nasr Ben Dhia; Marie-Noëlle Peraldi; Kais Harzallah; Daouia Iftene; Laurent Daniel; Marjolaine Willems; Laure-Hélène Noel; Christine Bole-Feysot; Patrick Nitschké; Marie-Claire Gubler; Géraldine Mollet; Sophie Saunier; Corinne Antignac
Journal:  J Am Soc Nephrol       Date:  2014-05-29       Impact factor: 10.121

4.  Diagnostic Utility of Exome Sequencing for Kidney Disease.

Authors:  Emily E Groopman; Maddalena Marasa; Sophia Cameron-Christie; Slavé Petrovski; Vimla S Aggarwal; Hila Milo-Rasouly; Yifu Li; Junying Zhang; Jordan Nestor; Priya Krithivasan; Wan Yee Lam; Adele Mitrotti; Stacy Piva; Byum H Kil; Debanjana Chatterjee; Rachel Reingold; Drew Bradbury; Michael DiVecchia; Holly Snyder; Xueru Mu; Karla Mehl; Olivia Balderes; David A Fasel; Chunhua Weng; Jai Radhakrishnan; Pietro Canetta; Gerald B Appel; Andrew S Bomback; Wooin Ahn; Natalie S Uy; Shumyle Alam; David J Cohen; Russell J Crew; Geoffrey K Dube; Maya K Rao; Sitharthan Kamalakaran; Brett Copeland; Zhong Ren; Joshua Bridgers; Colin D Malone; Caroline M Mebane; Neha Dagaonkar; Bengt C Fellström; Carolina Haefliger; Sumit Mohan; Simone Sanna-Cherchi; Krzysztof Kiryluk; Jan Fleckner; Ruth March; Adam Platt; David B Goldstein; Ali G Gharavi
Journal:  N Engl J Med       Date:  2018-12-26       Impact factor: 176.079

5.  Intraflagellar transport-A complex mediates ciliary entry and retrograde trafficking of ciliary G protein-coupled receptors.

Authors:  Tomoaki Hirano; Yohei Katoh; Kazuhisa Nakayama
Journal:  Mol Biol Cell       Date:  2016-12-08       Impact factor: 4.138
  5 in total
  3 in total

1.  Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease.

Authors:  Eric Olinger; Pran Phakdeekitcharoen; Yasar Caliskan; Sarah Orr; Holly Mabillard; Charles Pickles; Yincent Tse; Katrina Wood; John A Sayer
Journal:  Am J Med Genet C Semin Med Genet       Date:  2022-03-15       Impact factor: 3.359

Review 2.  Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports.

Authors:  Roser Torra; Mónica Furlano; Alberto Ortiz; Elisabet Ars
Journal:  Clin Kidney J       Date:  2021-03-12

3.  Case Report: Homozygous Pathogenic Variant P209L in the TTC21B Gene: A Rare Cause of End Stage Renal Disease and Biliary Cirrhosis Requiring Combined Liver-Kidney Transplantation. A Case Report and Literature Review.

Authors:  Giuseppe Gambino; Concetta Catalano; Martina Marangoni; Caroline Geers; Alain Le Moine; Nathalie Boon; Guillaume Smits; Lidia Ghisdal
Journal:  Front Med (Lausanne)       Date:  2021-12-10
  3 in total

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