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Renal Failure Volume 35, 2013 - Issue 9
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Laboratory Study

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

Asli Subasioglu UzakDepartment of Medical Genetics, Erciyes University School of Medicine KayseriTurkey;Dr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine Miami, FloridaUnited States of America
,
Nilgun CakarDepartment of Pediatrics, Ankara Diskapi Children`s Hospital AnkaraTurkey
,
Elif ComakDepartment of Pediatrics, Akdeniz University School of Medicine AntalyaTurkey
,
Fatos YalcinkayaDepartment of Pediatrics, Ankara University School of Medicine AnkaraTurkey
&
Mustafa TekinDr. John T. Macdonald Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine Miami, FloridaUnited States of America;Department of Pediatrics, Ankara University School of Medicine AnkaraTurkeyCorrespondence[email protected]
Pages 1281-1284 | Received 12 Apr 2013, Accepted 28 Jun 2013, Published online: 07 Aug 2013

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Yanxia Gao, Yan Xu, Qingyang Li, Yanhua Lang, Qian Dong & Leping Shao. (2014) Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis. Renal Failure 36:8, pages 1226-1232.
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Articles from other publishers (7)

Ezgi Ay, Emre Gurses, Filiz Aslan, Bora Gulhan, Asuman Alniacik, Ali Duzova, Munir Demir Bajin, Levent Sennaroglu, Gulsum Aydan Genc, Fatih Ozaltin & Rezan Topaloglu. (2023) Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis. Audiology and Neurotology, pages 1-10.
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Lesa Dawman, Karalanglin Tiewsoh, Prabal Barman, Kambagiri Pratyusha, Lalawmpuia Chaakchhuak & Indar Kumar Sharawat. (2021) Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute. Journal of Pediatric Genetics 11:03, pages 221-226.
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Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Osbourne Quaye, Gordon A. Awandare & Ambroise Wonkam. (2021) Hearing loss in Africa: current genetic profile. Human Genetics 141:3-4, pages 505-517.
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Peu Santra & Jeffrey D. Amack. (2021) Loss of vacuolar-type H+-ATPase induces caspase-independent necrosis-like death of hair cells in zebrafish neuromasts. Disease Models & Mechanisms 14:7.
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Malika Dahmani, Sonia Talbi, Fatima Ammar-Khodja, Sofiane Ouhab, Farid Boudjenah, Merieme Djebbar, Crystel Bonnet & Christine Petit. (2020) ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis. International Journal of Pediatric Otorhinolaryngology 129, pages 109772.
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Marta Alonso-Varela, Helena Gil-Peña, Eliecer Coto, Juan Gómez, Julián Rodríguez, Enrique Rodríguez-Rubio & Fernando Santos. (2018) Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatric Nephrology 33:9, pages 1523-1529.
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Cong Tian, Leona H. Gagnon, Chantal Longo-Guess, Ron Korstanje, Susan M. Sheehan, Kevin K. Ohlemiller, Angela D. Schrader, Jaclynn M. Lett & Kenneth R. Johnson. (2017) Hearing loss without overt metabolic acidosis in ATP6V1B1 deficient MRL mice, a new genetic model for non-syndromic deafness with enlarged vestibular aqueducts. Human Molecular Genetics 26:19, pages 3722-3735.
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