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Select item 46165461.

BSND and ATP6V1G3: Novel Immunohistochemical Markers for Chromophobe Renal Cell Carcinoma

Kazuya Shinmura, Hisaki Igarashi, Hisami Kato, Kenji Koda, Hiroshi Ogawa, Seishiro Takahashi, Yoshiro Otsuki, Tatsuaki Yoneda, Yuichi Kawanishi, Kazuhito Funai, Tatsuya Takayama, Seiichiro Ozono, Haruhiko Sugimura

Medicine (Baltimore) 2015 Jun; 94(24): e989. Published online 2015 Jun 19. doi: 10.1097/MD.0000000000000989

PMCID:: PMC4616546

Abstract Article PDF–1.3M

Select item 30853352.

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis

Hina Iqbal, Tayyba Sarfaraz, Farida Anjum, Zubair Anwar, Asif Mir

J Biomed Biotechnol. 2011; 2011: 304612. Published online 2011 Apr 4. doi: 10.1155/2011/304612

PMCID:: PMC3085335

Abstract Article PDF–3.7M

Select item 28627563.

Haplotype Diversity in Four Genes (CLCNKA, CLCNKB, BSND, NEDD4L) Involved in Renal Salt Reabsorption

Saba Sile, Digna R. Velez, Niloufar B. Gillani, Charles R. Alexander, Alfred L. George, Jr., Scott M. Williams

Hum Hered. 2007 Oct; 65(1): 33–46. Published online 2007 Jul 25. doi: 10.1159/000106060

PMCID:: PMC2862756

Abstract Article PDF–421K

Select item 27252344.

Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome

Saima Riazuddin, Saima Anwar, Martin Fischer, Zubair M. Ahmed, Shahid Y. Khan, Audrey G.H. Janssen, Ahmad U. Zafar, Ute Scholl, Tayyab Husnain, Inna A. Belyantseva, Penelope L. Friedman, Sheikh Riazuddin, Thomas B. Friedman, Christoph Fahlke

Am J Hum Genet. 2009 Aug 14; 85(2): 273–280. doi: 10.1016/j.ajhg.2009.07.003

PMCID:: PMC2725234

Abstract Article PDF–1.3M

Select item 87887815.

Viewing Cortical Collecting Duct Function Through Phenotype-guided Single-Tubule Proteomics

Nina Himmerkus, Samuel L Svendsen, Catarina Quintanova, Markus Bleich, Otto Von Schwerdtner, Thomas Benzing, Paul A Welling, Jens Leipziger, Markus M Rinschen

Function (Oxf) 2020; 1(1): zqaa007. Published online 2020 Jul 2. doi: 10.1093/function/zqaa007

PMCID:: PMC8788781

Abstract Article PDF–1.4M

Select item 84961086.

Haplotype genomic prediction of phenotypic values based on chromosome distance and gene boundaries using low-coverage sequencing in Duroc pigs

Cheng Bian, Dzianis Prakapenka, Cheng Tan, Ruifei Yang, Di Zhu, Xiaoli Guo, Dewu Liu, Gengyuan Cai, Yalan Li, Zuoxiang Liang, Zhenfang Wu, Yang Da, Xiaoxiang Hu

Genet Sel Evol. 2021; 53: 78. Published online 2021 Oct 7. doi: 10.1186/s12711-021-00661-y

PMCID:: PMC8496108

Abstract Article PDF–4.7M

Select item 69695327.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Simon A. Ramsbottom, Peter E. Thelwall, Katrina M. Wood, Gavin J. Clowry, Laura A. Devlin, Flora Silbermann, Helena L. Spiewak, Shirlee Shril, Elisa Molinari, Friedhelm Hildebrandt, Meral Gunay-Aygun, Sophie Saunier, Heather J. Cordell, John A. Sayer, Colin G. Miles

Proc Natl Acad Sci U S A. 2020 Jan 14; 117(2): 1113–1118. Published online 2019 Dec 26. doi: 10.1073/pnas.1912602117

PMCID:: PMC6969532

Abstract Article PDF–1.8M

Select item 67167178.

A novel compound heterozygous KCNJ1 gene mutation presenting as late-onset Bartter syndrome: Case report

Jingyi Li, Shoulong Hu, Yi Nie, Rongfeng Wang, Ming Tan, Hongmei Li, Shuanli Zhu

Medicine (Baltimore) 2019 Aug; 98(34): e16738. Published online 2019 Aug 23. doi: 10.1097/MD.0000000000016738

PMCID:: PMC6716717

Abstract Article PDF–418K

Select item 63751499.

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Maryam Najafi, Dor Mohammad Kordi-Tamandani, Farkhondeh Behjati, Simin Sadeghi-Bojd, Zeineb Bakey, Ehsan Ghayoor Karimiani, Isabel Schüle, Anoush Azarfar, Miriam Schmidts

Orphanet J Rare Dis. 2019; 14: 41. Published online 2019 Feb 13. doi: 10.1186/s13023-018-0981-5

PMCID:: PMC6375149

Abstract Article PDF–1.9M

Select item 603834610.

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos

BMC Med Genomics. 2018; 11: 58. Published online 2018 Jul 9. doi: 10.1186/s12920-018-0375-5

PMCID:: PMC6038346

Abstract Article PDF–964K

Select item 544050011.

Genetic causes of hypomagnesemia, a clinical overview

Daan H. H. M Viering, Jeroen H. F. de Baaij, Stephen B. Walsh, Robert Kleta, Detlef Bockenhauer

Pediatr Nephrol. 2017; 32(7): 1123–1135. Published online 2016 May 27. doi: 10.1007/s00467-016-3416-3

PMCID:: PMC5440500

Abstract Article PDF–952K

Select item 542815012.

Physiological Genomics Identifies Estrogen-Related Receptor α as a Regulator of Renal Sodium and Potassium Homeostasis and the Renin-Angiotensin Pathway

Annie M. Tremblay, Catherine R. Dufour, Majid Ghahremani, Timothy L. Reudelhuber, Vincent Giguère

Mol Endocrinol. January 1, 2010; 24(1): 22–32. doi: 10.1210/me.2009-0254

PMCID:: PMC5428150

Abstract Article

Select item 406500813.

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

Sobia Shafique, Saima Siddiqi, Margit Schraders, Jaap Oostrik, Humaira Ayub, Ammad Bilal, Muhammad Ajmal, Celia Zazo Seco, Tim M. Strom, Atika Mansoor, Kehkashan Mazhar, Syed Tahir A. Shah, Alamdar Hussain, Maleeha Azam, Hannie Kremer, Raheel Qamar

PLoS One. 2014; 9(6): e100146. Published online 2014 Jun 20. doi: 10.1371/journal.pone.0100146

PMCID:: PMC4065008

Abstract Article PDF–1.0M

Select item 261572014.

Disease-Causing Dysfunctions of Barttin in Bartter Syndrome Type IV

Audrey G.H. Janssen, Ute Scholl, Constanze Domeyer, Doreen Nothmann, Ariane Leinenweber, Christoph Fahlke

J Am Soc Nephrol. 2009 Jan; 20(1): 145–153. doi: 10.1681/ASN.2008010102

PMCID:: PMC2615720

Abstract Article

Select item 1050330815.

Sonic Hedgehog Signaling Is Essential for Pulmonary Ionocyte Specification in Human and Ferret Airway Epithelia

Qian Cai, Meihui Luo, Yinghua Tang, Miao Yu, Feng Yuan, Grace N. Gasser, Xiaoming Liu, John F. Engelhardt

Am J Respir Cell Mol Biol. 2023 Sep 1; 69(3): 295–309. Published online 2023 May 4. doi: 10.1165/rcmb.2022-0280OC

PMCID:: PMC10503308

Abstract Article PDF–4.2M

Select item 1009950616.

A Rare Presentation of Adult-Onset Bartter Syndrome: A Case Report

Deekshitha Alla, Meghana Krishna Kesineni, Roopeessh Vempati, Hinal Patel, Shenelle Menezes, Sai Santhosha Mrudula Alla, Devkumar Patel, Srajan Gupta, Krish Patel, Anju Pradeep

Cureus. 2023 Mar; 15(3): e36120. Published online 2023 Mar 14. doi: 10.7759/cureus.36120

PMCID:: PMC10099506

Abstract Article PDF–87K

Select item 1004075117.

Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea

Naye Choi, Seong Heon Kim, Eun Hui Bae, Eun Mi Yang, Keum Hwa Lee, Sang-Ho Lee, Joo Hoon Lee, Yo Han Ahn, Hae Il Cheong, Hee Gyung Kang, Hye Sun Hyun, Ji Hyun Kim

Front Med (Lausanne) 2023; 10: 1099840. Published online 2023 Mar 13. doi: 10.3389/fmed.2023.1099840