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1993 1
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2009 2
2011 6
2012 3
2013 2
2014 3
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Page 1
Dent disease: A window into calcium and phosphate transport.
Anglani F, Gianesello L, Beara-Lasic L, Lieske J. Anglani F, et al. J Cell Mol Med. 2019 Nov;23(11):7132-7142. doi: 10.1111/jcmm.14590. Epub 2019 Aug 31. J Cell Mol Med. 2019. PMID: 31472005 Free PMC article. Review.
This review examines calcium and phosphate transport in the kidney through the lens of the rare X-linked genetic disorder Dent disease. Dent disease type 1 (DD1) is caused by mutations in the CLCN5 gene encoding ClC-5, a Cl(-) /H(+) antiporter localize …
This review examines calcium and phosphate transport in the kidney through the lens of the rare X-linked genetic disorder Dent dis …
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2.
Sakakibara N, Nagano C, Ishiko S, Horinouchi T, Yamamura T, Minamikawa S, Shima Y, Nakanishi K, Ishimori S, Morisada N, Iijima K, Nozu K. Sakakibara N, et al. Pediatr Nephrol. 2020 Dec;35(12):2319-2326. doi: 10.1007/s00467-020-04701-5. Epub 2020 Jul 18. Pediatr Nephrol. 2020. PMID: 32683654
BACKGROUND: Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic variants in either of two genes: CLCN5 (Dent disease 1) and OCRL (Dent disease 2). ...METHODS: We performed gene test …
BACKGROUND: Dent disease is associated with low molecular weight proteinuria and hypercalciuria and caused by pathogenic varia …
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
Pirruccello M, De Camilli P. Pirruccello M, et al. Trends Biochem Sci. 2012 Apr;37(4):134-43. doi: 10.1016/j.tibs.2012.01.002. Epub 2012 Feb 28. Trends Biochem Sci. 2012. PMID: 22381590 Free PMC article. Review.
Additionally, structural analysis of missense mutations in the catalytic domain of OCRL provides insight into the phenotypic heterogeneity observed in Lowe syndrome and Dent disease....
Additionally, structural analysis of missense mutations in the catalytic domain of OCRL provides insight into the phenotypic heterogeneity …
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Sakakibara N, Ijuin T, Horinouchi T, Yamamura T, Nagano C, Okada E, Ishiko S, Aoto Y, Rossanti R, Ninchoji T, Awano H, Nagase H, Minamikawa S, Tanaka R, Matsuyama T, Nagatani K, Kamei K, Jinnouchi K, Ohtsuka Y, Oka M, Araki Y, Tanaka T, Harada MS, Igarashi T, Kitahara H, Morisada N, Nakamura SI, Okada T, Iijima K, Nozu K. Sakakibara N, et al. Nephrol Dial Transplant. 2022 Jan 25;37(2):262-270. doi: 10.1093/ndt/gfab274. Nephrol Dial Transplant. 2022. PMID: 34586410
Truncating mutations in OCRL exons 1-7 lead to Dent disease-2, whereas those in exons 8-24 lead to Lowe syndrome. ...In vitro protein-expression analysis detected proteins of two different sizes (105 and 80 kDa) translated from full-length OCRL, whereas only one pro …
Truncating mutations in OCRL exons 1-7 lead to Dent disease-2, whereas those in exons 8-24 lead to Lowe syndrome. ...In vitro …
Histologic and Clinical Factors Associated with Kidney Outcomes in IgA Vasculitis Nephritis.
Barbour SJ, Coppo R, Er L, Pillebout E, Russo ML, Alpers CE, Fogo AB, Ferrario F, Jennette JC, Roberts ISD, Cook HT, Ding J, Su B, Zhong X, Fervenza FC, Zand L, Peruzzi L, Lucchetti L, Katafuchi R, Shima Y, Yoshikawa N, Ichikawa D, Suzuki Y, Murer L, Wyatt RJ, Park C, Nelson RD, Narus JH, Wenderfer S, Geetha D, Daugas E, Monteiro RC, Nakatani S, Mastrangelo A, Nuutinen M, Koskela M, Weber LT, Hackl A, Pohl M, Pecoraro C, Tsuboi N, Yokoo T, Takafumi I, Fujimoto S, Conti G, Santoro D, Materassi M, Zhang H, Shi S, Liu ZH, Tesar V, Maixnerova D, Avila-Casado C, Bajema I, Barreca A, Becker JU, Comstock JM, Cornea V, Eldin K, Hernandez LH, Hou J, Joh K, Lin M, Messias N, Muda AO, Pagni F, Diomedi-Camassei F, Tokola H, D'Armiento M, Seidl M, Rosenberg A, Sannier A, Soares MF, Wang S, Zeng C, Haas M. Barbour SJ, et al. Clin J Am Soc Nephrol. 2024 Apr 1;19(4):438-451. doi: 10.2215/CJN.0000000000000398. Epub 2024 Jan 23. Clin J Am Soc Nephrol. 2024. PMID: 38261310
BACKGROUND: Nephritis is a common manifestation of IgA vasculitis and is morphologically indistinguishable from IgA nephropathy. While MEST-C scores are predictive of kidney outcomes in IgA nephropathy, their value in IgA vasculitis nephritis has not been investigat …
BACKGROUND: Nephritis is a common manifestation of IgA vasculitis and is morphologically indistinguishable from IgA nephropathy. While MEST- …
Muscle involvement in Dent disease 2.
Park E, Choi HJ, Lee JM, Ahn YH, Kang HG, Choi YM, Park SJ, Cho HY, Park YH, Lee SJ, Ha IS, Cheong HI. Park E, et al. Pediatr Nephrol. 2014 Nov;29(11):2127-32. doi: 10.1007/s00467-014-2841-4. Epub 2014 Jun 7. Pediatr Nephrol. 2014. PMID: 24912603
BACKGROUND: Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent disease 1) or OCRL (Dent disease 2). ...CONCLUSIONS: The serum levels of muscle enzymes in patients with Dent diseas …
BACKGROUND: Dent disease, an X-linked recessive renal tubulopathy, is caused by mutations in either CLCN5 (Dent dise …
Mechanisms of disease: what can mouse models tell us about the molecular processes underlying Dent disease?
Guggino SE. Guggino SE. Nat Clin Pract Nephrol. 2007 Aug;3(8):449-55. doi: 10.1038/ncpneph0541. Nat Clin Pract Nephrol. 2007. PMID: 17653124 Review.
Data from such experimental models have greatly advanced our understanding of the molecular mechanisms underlying Dent disease. This Review summarizes some of the important phenotypic characteristics shared by mouse models and people with Dent disease. …
Data from such experimental models have greatly advanced our understanding of the molecular mechanisms underlying Dent disease …
Observations of a large Dent disease cohort.
Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, Bérard E, Champion G, Cochat P, Dubourg J, de la Faille R, Devuyst O, Deschenes G, Fischbach M, Harambat J, Houillier P, Karras A, Knebelmann B, Lavocat MP, Loirat C, Merieau E, Niaudet P, Nobili F, Novo R, Salomon R, Ulinski T, Jeunemaître X, Vargas-Poussou R. Blanchard A, et al. Kidney Int. 2016 Aug;90(2):430-439. doi: 10.1016/j.kint.2016.04.022. Epub 2016 Jun 22. Kidney Int. 2016. PMID: 27342959 Free article.
Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. ...Kalemia decreased with age, with half of the patients over the age of 18 presenting with hypokalemia. Thus, no phenotype/genotype correlat …
Dent disease classically combines low-molecular-weight proteinuria, hypercalciuria with nephrocalcinosis, and renal failure. . …
A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy.
Naik S, Wood AR, Ongenaert M, Saidiyan P, Elstak ED, Lanz HL, Stallen J, Janssen R, Smythe E, Erdmann KS. Naik S, et al. Int J Mol Sci. 2021 May 19;22(10):5361. doi: 10.3390/ijms22105361. Int J Mol Sci. 2021. PMID: 34069732 Free PMC article.
Furthermore, using this model, we demonstrate that proximal tubule cells lacking OCRL expression upregulate markers typical for epithelial-mesenchymal transition (EMT), including the transcription factor SNAI2/Slug, and show increased collagen expression and deposition, which pot …
Furthermore, using this model, we demonstrate that proximal tubule cells lacking OCRL expression upregulate markers typical for epithelial-m …
Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.
Li F, Yue Z, Xu T, Chen M, Zhong L, Liu T, Jing X, Deng J, Hu B, Liu Y, Wang H, Lai KN, Sun L, Liu J, Maxwell PH, Wang Y. Li F, et al. J Pediatr. 2016 Jul;174:204-210.e1. doi: 10.1016/j.jpeds.2016.04.007. Epub 2016 May 9. J Pediatr. 2016. PMID: 27174143 Free PMC article.
OBJECTIVE: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. ...We also present predicted structural changes for 4 mutant proteins. CONCLUSIONS: Pediatric Dent disea …
OBJECTIVE: To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish …
41 results