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Select item 101033101.

Impaired Endosome Maturation Mediates Tubular Proteinuria in Dent Disease Cell Culture and Mouse Models

Katherine E. Shipman, Catherine J. Baty, Kimberly R. Long, Youssef Rbaibi, Isabella A. Cowan, Mona Gerges, Allison L. Marciszyn, Ossama B. Kashlan, Roderick J. Tan, Aurélie Edwards, Ora A. Weisz

J Am Soc Nephrol. 2023 Apr; 34(4): 619–640. Published online 2023 Feb 9. doi: 10.1681/ASN.0000000000000084

PMCID:: PMC10103310

Article

Select item 97475512.

A single heterozygous nonsense mutation in the TTC21B gene causes adult‐onset nephronophthisis 12: A case report and review of literature

Dan Wang, Xionghui Chen, Qiong Wen, Zhijian Li, Wei Chen, Wenfang Chen, Xin Wang

Mol Genet Genomic Med. 2022 Dec; 10(12): e2076. Published online 2022 Oct 20. doi: 10.1002/mgg3.2076

PMCID:: PMC9747551

Article PDF–2.0M

Select item 96782783.

Biomarkers of sickle cell nephropathy in Senegal

El Hadji Malick Ndour, Khuthala Mnika, Fatou Guèye Tall, Moussa Seck, Indou Dème Ly, Victoria Nembaware, Gaston Kuzamunu Mazandu, Hélène Ange Thérèse Sagna Bassène, Rokhaya Dione, Aliou Abdoulaye Ndongo, Jean Pascal Demba Diop, Nènè Oumou Kesso Barry, Moustapha Djité, Rokhaya Ndiaye Diallo, Papa Madièye Guèye, Saliou Diop, Ibrahima Diagne, Aynina Cissé, Ambroise Wonkam, Philomène Lopez Sall

PLoS One. 2022; 17(11): e0273745. Published online 2022 Nov 21. doi: 10.1371/journal.pone.0273745

PMCID:: PMC9678278

Article PDF–633K

Select item 93435354.

A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test

Yaeko Motoyoshi, Tomoo Yabuuchi, Kenichiro Miura, Motoshi Hattori, Koji Kiyohara

CEN Case Rep. 2022 Aug; 11(3): 366–370. Published online 2022 Jan 31. doi: 10.1007/s13730-022-00685-3

PMCID:: PMC9343535

Article PDF–803K

Select item 90973215.

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou

BMC Nephrol. 2022; 23: 182. Published online 2022 May 12. doi: 10.1186/s12882-022-02812-9

PMCID:: PMC9097321

Article PDF–1.6M

Select item 89704626.

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness

Naomi Issler, Sara Afonso, Irith Weissman, Katrin Jordan, Alberto Cebrian-Serrano, Katrin Meindl, Eileen Dahlke, Konstantin Tziridis, Guanhua Yan, José M. Robles-López, Lydia Tabernero, Vaksha Patel, Anne Kesselheim, Enriko D. Klootwijk, Horia C. Stanescu, Simona Dumitriu, Daniela Iancu, Mehmet Tekman, Monika Mozere, Graciana Jaureguiberry, Priya Outtandy, Claire Russell, Anna-Lena Forst, Christina Sterner, Elena-Sofia Heinl, Helga Othmen, Ines Tegtmeier, Markus Reichold, Ina Maria Schiessl, Katharina Limm, Peter Oefner, Ralph Witzgall, Lifei Fu, Franziska Theilig, Achim Schilling, Efrat Shuster Biton, Limor Kalfon, Ayalla Fedida, Elite Arnon-Sheleg, Ofer Ben Izhak, Daniella Magen, Yair Anikster, Holger Schulze, Christine Ziegler, Martin Lowe, Benjamin Davies, Detlef Böckenhauer, Robert Kleta, Tzipora C. Falik Zaccai, Richard Warth

J Am Soc Nephrol. 2022 Apr; 33(4): 732–745. Published online 2022 Apr. doi: 10.1681/ASN.2021101312

PMCID:: PMC8970462

Article

Select item 82832067.

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

Mónica Durán, Carla Burballa, Gerard Cantero-Recasens, Cristian M Butnaru, Vivek Malhotra, Gema Ariceta, Eduard Sarró, Anna Meseguer

Hum Mol Genet. 2021 Aug 1; 30(15): 1413–1428. Published online 2021 May 13. doi: 10.1093/hmg/ddab131

PMCID:: PMC8283206

Article PDF–1.9M

Select item 78896818.

Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon

Lisa Gianesello, Dorella Del Prete, Franca Anglani, Lorenzo A. Calò

Hum Genet. 2021; 140(3): 401–421. Published online 2020 Aug 29. doi: 10.1007/s00439-020-02219-2

PMCID:: PMC7889681

Article PDF–2.0M

Select item 78022649.

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li

BMC Nephrol. 2021; 22: 24. Published online 2021 Jan 11. doi: 10.1186/s12882-020-02225-6

PMCID:: PMC7802264

Article PDF–820K

Select item 779268910.

Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

Jennifer R. Charlton, Weizhen Tan, Ghaleb Daouk, Lisa Teot, Seymour Rosen, Kevin M. Bennett, Aleksandra Cwiek, Sejin Nam, Francesco Emma, François Jouret, João Paulo Oliveira, Lisbeth Tranebjærg, Carina Frykholm, Shrikant Mane, Friedhelm Hildebrandt, Tarak Srivastava, Tina Storm, Erik Ilsø Christensen, Rikke Nielsen

Am J Physiol Renal Physiol. 2020 Dec 1; 319(6): F988–F999. Published online 2020 Oct 26. doi: 10.1152/ajprenal.00295.2020

PMCID:: PMC7792689

Article

Select item 751947011.

Making a Dent in Dent Disease

Katherine E Shipman, Ora A Weisz

Function (Oxf) 2020; 1(2): zqaa017. Published online 2020 Sep 11. doi: 10.1093/function/zqaa017

PMCID:: PMC7519470

Article PDF–3.7M

Select item 750209412.

A rare case of nephrotic syndrome associated with Dent’s disease: a case report

Shinichi Makino, Maulana A. Empitu, Toshimasa Naito, Masayoshi Ishii, Hanae Wakabayashi, Chiwei Lee, Masashi Aizawa, Katsuhiko Asanuma

CEN Case Rep. 2020 Nov; 9(4): 380–384. Published online 2020 Jun 12. doi: 10.1007/s13730-020-00491-9

PMCID:: PMC7502094

Article PDF–927K

Select item 743461213.

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease

Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Hongwen Zhang, Xiaoyu Liu, Baige Su, Na Guan, Xuhui Zhong, Suxia Wang, Jie Ding, Fang Wang

Mol Genet Genomic Med. 2020 Aug; 8(8): e1306. Published online 2020 Jun 3. doi: 10.1002/mgg3.1306

PMCID:: PMC7434612

Article PDF–783K

Select item 732252214.

Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome

Julia Flemming, Maike Marczenke, Ina-Maria Rudolph, Rikke Nielsen, Tina Storm, Ilsoe Christensen Erik, Sebastian Diecke, Francesco Emma, Thomas E. Willnow

Kidney Int. 2020 Jul; 98(1): 159–167. doi: 10.1016/j.kint.2020.02.021

Correction in:: Kidney Int. 2021 Aug; 100(2): 482.

PMCID:: PMC7322522

Article PDF–2.3M

Select item 721648915.

Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq)

Yuhong Ye, Jingjing Wang, Xiaofang Quan, Ke Xu, Haidong Fu, Weiyue Gu, Jianhua Mao

BMC Nephrol. 2020; 21: 171. Published online 2020 May 11. doi: 10.1186/s12882-020-01827-4

PMCID:: PMC7216489

Article PDF–840K

Select item 693499716.

Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model

Megan L. Gliozzi, Eugenel B. Espiritu, Katherine E. Shipman, Youssef Rbaibi, Kimberly R. Long, Nairita Roy, Andrew W. Duncan, Matthew J. Lazzara, Neil A. Hukriede, Catherine J. Baty, Ora A. Weisz

J Am Soc Nephrol. 2020 Jan; 31(1): 67–83. Published online 2019 Nov 1. doi: 10.1681/ASN.2019020125

PMCID:: PMC6934997

Article

Select item 691120417.

Galnt11 regulates kidney function by glycosylating the endocytosis receptor megalin to modulate ligand binding

E. Tian, Shengjun Wang, Liping Zhang, Ying Zhang, May C. Malicdan, Yang Mao, Christina Christoffersen, Lawrence A. Tabak, Katrine T. Schjoldager, Kelly G. Ten Hagen

Proc Natl Acad Sci U S A. 2019 Dec 10; 116(50): 25196–25202. Published online 2019 Nov 18. doi: 10.1073/pnas.1909573116

PMCID:: PMC6911204

Article PDF–1.7M

Select item 682241518.

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina

BMC Nephrol. 2019; 20: 400. Published online 2019 Oct 31. doi: 10.1186/s12882-019-1589-2

PMCID:: PMC6822415

Article PDF–1.5M

Select item 673676419.

Prevalence of low molecular weight proteinuria and Dent Disease 1 CLCN5 mutations in proteinuric cohorts

Lada Beara-Lasic, Andrea Cogal, Kristin Mara, Felicity Enders, Ramila A. Mehta, Zejfa Haskic, Susan L. Furth, Howard Trachtman, Steven J. Scheinman, Dawn S. Milliner, David S. Goldfarb, Peter C. Harris, John C. Lieske

Pediatr Nephrol. Author manuscript; available in PMC 2020 Sep 10.

Published before final editing as: Pediatr Nephrol. 2019 Mar 10 : 10.1007/s00467-019-04210-0. doi: 10.1007/s00467-019-04210-0 [Epub ahead of print]

PMCID:: PMC6736764

Article PDF–613K

Select item 599564220.

Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome

Franca Anglani, Liliana Terrin, Milena Brugnara, Michele Battista, Vincenzo Cantaluppi, Monica Ceol, Loris Bertoldi, Giorgio Valle, Maliackal P. Joy, Barbara R Pober, Mauro Longoni

Clin Genet. Author manuscript; available in PMC 2019 Jul 1.

Published in final edited form as: Clin Genet. 2018 Jul; 94(1): 187–188. Published online 2018 Mar 13. doi: 10.1111/cge.13242

PMCID:: PMC5995642

Article PDF–157K

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