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Select item 96267221.

Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis

Anshuman Saha, Priyadarshini Pande, Kinnari Vala, Shahenaz Kapadia, Himanshu Patel

CEN Case Rep. 2022 Nov; 11(4): 417–421. Published online 2022 Feb 23. doi: 10.1007/s13730-022-00694-2

PMCID:: PMC9626722

Abstract Article PDF–731K

Select item 90218702.

Late-Onset Bartter Syndrome Type II Due to a Novel Compound Heterozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Mi Tian, Hui Peng, Xin Bi, Yan-Qiu Wang, Yong-Zhe Zhang, Yan Wu, Bei-Ru Zhang

Front Med (Lausanne) 2022; 9: 862514. Published online 2022 Apr 7. doi: 10.3389/fmed.2022.862514

PMCID:: PMC9021870

Abstract Article PDF–1.2M

Select item 75344903.

Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review

Khaled A. Elfert, David S. Geller, Carol Nelson-Williams, Richard P. Lifton, Hassan Al-Malki, Awais Nauman

Am J Case Rep. 2020; 21: e924527-1–e924527-7. Published online 2020 Sep 30. doi: 10.12659/AJCR.924527

PMCID:: PMC7534490

Abstract Article PDF–1.9M

Select item 73184024.

Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report

Subhrata Verma, Rahul Chanchlani, Victoria Mok Siu, Guido Filler

BMC Pediatr. 2020; 20: 311. Published online 2020 Jun 26. doi: 10.1186/s12887-020-02214-6

PMCID:: PMC7318402

Abstract Article PDF–789K

Select item 56228985.

Late-onset Bartter syndrome type II

Benjamin Gollasch, Yoland-Marie Anistan, Sima Canaan-Kühl, Maik Gollasch

Clin Kidney J. 2017 Oct; 10(5): 594–599. Published online 2017 May 8. doi: 10.1093/ckj/sfx033

PMCID:: PMC5622898

Abstract Article PDF–840K

Select item 85242636.

Antenatal Bartter syndrome: a new compound heterozygous mutation in exon 2 of KCNJ1 gene

Srinivasan Mani, Jayasree Nair, Deepali Handa

BMJ Case Rep. 2021; 14(10): e244685. Published online 2021 Oct 18. doi: 10.1136/bcr-2021-244685

PMCID:: PMC8524263

Abstract Article PDF–184K

Select item 69252507.

The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK

Guglielmo Schiano, Bob Glaudemans, Eric Olinger, Nadine Goelz, Michael Müller, Dominique Loffing-Cueni, Georges Deschenes, Johannes Loffing, Olivier Devuyst

Sci Rep. 2019; 9: 19517. Published online 2019 Dec 20. doi: 10.1038/s41598-019-55771-x

PMCID:: PMC6925250

Abstract Article PDF–5.0M

Select item 101975308.

Genome mining yields new disease-associated ROMK variants with distinct defects

Nga H. Nguyen, Srikant Sarangi, Erin M. McChesney, Shaohu Sheng, Aidan W. Porter, Thomas R. Kleyman, Zachary W. Pitluk, Jeffrey L. Brodsky

Version 1. bioRxiv. Preprint. 2023 May 8. doi: 10.1101/2023.05.05.539609

Published in:: PLoS Genet. 2023 Nov; 19(11): e1011051.

PMCID:: PMC10197530

Abstract Article

Select item 89676789.

Genetic evaluation of paediatric nephrocalcinosis: phenotype-driven genetic panels reveal a rare diagnosis

Jenny Patterson, Zoe Jacob, Ben C Reynolds

Clin Kidney J. 2022 Apr; 15(4): 812–815. Published online 2021 Dec 17. doi: 10.1093/ckj/sfab279

PMCID:: PMC8967678

Abstract Article PDF–157K

Select item 732013110.

Isolated nephrocalcinosis due to compound heterozygous mutations in renal outer medullary potassium channel

Priyanka Khandelwal, Jasintha Sabanadesan, Aditi Sinha, Pankaj Hari, Arvind Bagga

CEN Case Rep. 2020 Aug; 9(3): 232–236. Published online 2020 Mar 17. doi: 10.1007/s13730-020-00464-y

PMCID:: PMC7320131

Abstract Article PDF–721K

Select item 554602411.

Endoplasmic reticulum–associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome

Brighid M. O'Donnell, Timothy D. Mackie, Arohan R. Subramanya, Jeffrey L. Brodsky

J Biol Chem. 2017 Aug 4; 292(31): 12813–12827. Published online 2017 Jun 19. doi: 10.1074/jbc.M117.786376

PMCID:: PMC5546024

Abstract Article PDF–2.7M

Select item 1069539412.

Genome mining yields putative disease-associated ROMK variants with distinct defects

Nga H. Nguyen, Srikant Sarangi, Erin M. McChesney, Shaohu Sheng, Jacob D. Durrant, Aidan W. Porter, Thomas R. Kleyman, Zachary W. Pitluk, Jeffrey L. Brodsky

PLoS Genet. 2023 Nov; 19(11): e1011051. Published online 2023 Nov 13. doi: 10.1371/journal.pgen.1011051

PMCID:: PMC10695394

Abstract Article PDF–3.7M

Select item 1046414013.

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P. Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H. Driller, Bjørn P. Pedersen, Karl P. Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüller

Genome Med. 2023; 15: 62. Published online 2023 Aug 23. doi: 10.1186/s13073-023-01215-1

PMCID:: PMC10464140

Abstract Article PDF–2.4M

Select item 1040060614.

Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3

Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Renaltube group, Leire Madariaga

Sci Rep. 2023; 13: 12587. Published online 2023 Aug 3. doi: 10.1038/s41598-023-38179-6

PMCID:: PMC10400606

Abstract Article PDF–997K

Select item 955224515.

Monogenic urinary lithiasisin Tunisian children: 25 years’ experience of a referral center

Abir Boussetta, Amina Karray, Nesrine Abida, Manel Jellouli, Tahar Gargah

Tunis Med. 2022 May; 100(5): 410–415. Published online 2022 May 1.

PMCID:: PMC9552245

Abstract Article PDF–832K

Select item 954421716.

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis

Qianying Zhao, Qinqin Xiang, Yu Tan, Xiao Xiao, Hanbing Xie, He Wang, Mei Yang, Shanling Liu

Mol Genet Genomic Med. 2022 Oct; 10(10): e2027. Published online 2022 Aug 1. doi: 10.1002/mgg3.2027

PMCID:: PMC9544217

Abstract Article PDF–1.0M

Select item 933662117.

8例囊性纤维化患儿临床及基因突变分析

张娜, 刘建华, 褚亚娟, 帅金凤, 黄坤玲

Zhongguo Dang Dai Er Ke Za Zhi. 2022 Jul 15; 24(7): 771–777. Chinese. doi: 10.7499/j.issn.1008-8830.2203015

PMCID:: PMC9336621

Abstract Article PDF–805K

Select item 923508718.

A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis

Saisai Yang, Guanghui Yao, Xin Chen, Huirong Shi, Chihhong Lou, Shumin Ren, Zhihui Jiao, Cong Wang, Xiangdong Kong, Qinghua Wu

BMC Nephrol. 2022; 23: 227. Published online 2022 Jun 27. doi: 10.1186/s12882-022-02783-x

PMCID:: PMC9235087

Abstract Article PDF–1.6M

Select item 866548219.

A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter’s syndrome with 4 years follow-up

Mingsheng Ma, Mengqi Zhang, Yu Zhou, Fengxia Yao, Min Wei, Zhenghong Li, Zhengqing Qiu

BMC Nephrol. 2021; 22: 408. Published online 2021 Dec 11. doi: 10.1186/s12882-021-02553-1

PMCID:: PMC8665482

Abstract Article PDF–1.1M

Select item 840427420.

Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report

Jumpei Kuroda, Ryoko Harada, Riku Hamada, Yusuke Okuda, Yasuhiro Yoshida, Hiroshi Hataya, Kandai Nozu, Kazumoto Iijima, Masataka Honda, Kenji Ishikura

BMC Nephrol. 2021; 22: 295. Published online 2021 Aug 30. doi: 10.1186/s12882-021-02497-6

PMCID:: PMC8404274

Abstract Article PDF–476K

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