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Literature DB >> 30673801

Inherited proximal tubular disorders and nephrolithiasis.

Ben Oliveira¹, Robert Unwin^1,2, Stephen B Walsh³.

Abstract

The proximal tubule is responsible for reclaiming water, phosphates and amino acids from the tubular filtrate. There are genetic defects in both phosphate and amino acid transporters leading to nephrolithiasis. This review also explores genetic defects in regulators of phosphate and calcium transport in this nephron segment that lead to stone formation.

Entities: Chemical Disease

Keywords: Nephrolithiasis; Physiology; Tubular

Mesh：

Substances：

Year: 2019 PMID： 30673801 DOI： 10.1007/s00240-018-01103-z

Source DB: PubMed Journal: Urolithiasis ISSN： 2194-7228 Impact factor: 3.436

67 in total

Review 1. Calcium-sensing receptor gene polymorphisms in patients with calcium nephrolithiasis.

Authors: Giuseppe Vezzoli; Annalisa Terranegra; Laura Soldati
Journal: Curr Opin Nephrol Hypertens Date: 2012-07 Impact factor: 2.894

2. Structure of murine and human renal type II Na+-phosphate cotransporter genes (Npt2 and NPT2).

Authors: C M Hartmann; A S Hewson; C H Kos; H Hilfiker; Y Soumounou; H Murer; H S Tenenhouse
Journal: Proc Natl Acad Sci U S A Date: 1996-07-09 Impact factor: 11.205

3. Mutations in CYP24A1 and idiopathic infantile hypercalcemia.

Authors: Karl P Schlingmann; Martin Kaufmann; Stefanie Weber; Andrew Irwin; Caroline Goos; Ulrike John; Joachim Misselwitz; Günter Klaus; Eberhard Kuwertz-Bröking; Henry Fehrenbach; Anne M Wingen; Tülay Güran; Joost G Hoenderop; René J Bindels; David E Prosser; Glenville Jones; Martin Konrad
Journal: N Engl J Med Date: 2011-06-15 Impact factor: 91.245

4. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.

Authors: Priya Phulwani; Clemens Bergwitz; Graciana Jaureguiberry; Majjid Rasoulpour; Elizabeth Estrada
Journal: Am J Med Genet A Date: 2011-02-22 Impact factor: 2.802

5. CKD and Its Risk Factors among Patients with Cystinuria.

Authors: Caroline Prot-Bertoye; Saïd Lebbah; Michel Daudon; Isabelle Tostivint; Pierre Bataille; Franck Bridoux; Pierre Brignon; Christian Choquenet; Pierre Cochat; Christian Combe; Pierre Conort; Stéphane Decramer; Bertrand Doré; Bertrand Dussol; Marie Essig; Nicolas Gaunez; Dominique Joly; Sophie Le Toquin-Bernard; Arnaud Méjean; Paul Meria; Denis Morin; Hung Viet N'Guyen; Christian Noël; Michel Normand; Michel Pietak; Pierre Ronco; Christian Saussine; Michel Tsimaratos; Gérard Friedlander; Olivier Traxer; Bertrand Knebelmann; Marie Courbebaisse
Journal: Clin J Am Soc Nephrol Date: 2015-02-25 Impact factor: 8.237

6. The Na+-Pi cotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary Pi.

Authors: Ricardo Villa-Bellosta; Silvia Ravera; Victor Sorribas; Gerti Stange; Moshe Levi; Heini Murer; Jürg Biber; Ian C Forster
Journal: Am J Physiol Renal Physiol Date: 2008-12-10

7. Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies.

Authors: S J Scheinman; M A Pook; C Wooding; J T Pang; P A Frymoyer; R V Thakker
Journal: J Clin Invest Date: 1993-06 Impact factor: 14.808

8. Comparative expression of the extracellular calcium-sensing receptor in the mouse, rat, and human kidney.

Authors: J A Z Graca; M Schepelmann; S C Brennan; J Reens; W Chang; P Yan; H Toka; D Riccardi; S A Price
Journal: Am J Physiol Renal Physiol Date: 2015-12-09

9. Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

Authors: Hirotaka Matsuo; Toshinori Chiba; Shushi Nagamori; Akiyoshi Nakayama; Hideharu Domoto; Kanokporn Phetdee; Pattama Wiriyasermkul; Yuichi Kikuchi; Takashi Oda; Junichiro Nishiyama; Takahiro Nakamura; Yuji Morimoto; Keiko Kamakura; Yutaka Sakurai; Shigeaki Nonoyama; Yoshikatsu Kanai; Nariyoshi Shinomiya
Journal: Am J Hum Genet Date: 2008-11-20 Impact factor: 11.025

10. G alpha q family members couple parathyroid hormone (PTH)/PTH-related peptide and calcitonin receptors to phospholipase C in COS-7 cells.

Authors: S Offermanns; A Iida-Klein; G V Segre; M I Simon
Journal: Mol Endocrinol Date: 1996-05

4 in total

4. Oxalate Activates Autophagy to Induce Ferroptosis of Renal Tubular Epithelial Cells and Participates in the Formation of Kidney Stones.

Authors: Qianlin Song; Wenbiao Liao; Xin Chen; Ziqi He; Bin Li; Junwei Liu; Lang Liu; Yunhe Xiong; Chao Song; Sixing Yang
Journal: Oxid Med Cell Longev Date: 2021-10-06 Impact factor: 6.543