{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T17:53:47Z","timestamp":1781632427281,"version":"3.54.5"},"reference-count":111,"publisher":"American Physiological Society","issue":"5","license":[{"start":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T00:00:00Z","timestamp":1718323200000},"content-version":"vor","delay-in-days":165,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Secretar\u00eda de Educaci\u00f3n, Ciencia, Tecnolog\u00eda e Innovaci\u00f3n","award":["SECTEI\/208\/2019"],"award-info":[{"award-number":["SECTEI\/208\/2019"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Polycystic kidney disease (PKD), a disease characterized by the enlargement of the kidney through cystic growth is the fourth leading cause of end-stage kidney disease world-wide. Transient receptor potential Vanilloid 4 (TRPV4), a calcium-permeable TRP, channel participates in kidney cell physiology and since TRPV4 forms complexes with another channel whose malfunction is associated to PKD, TRPP2 (or PKD2), we sought to determine whether patients with PKD, exhibit previously unknown mutations in TRPV4. Here, we report the presence of mutations in the TRPV4 gene in patients diagnosed with PKD and determine that they produce gain-of-function (GOF). Mutations in the sequence of the TRPV4 gene have been associated to a broad spectrum of neuropathies and skeletal dysplasias but not PKD, and their biophysical effects on channel function have not been elucidated. We identified and examined the functional behavior of a novel E6K mutant and of the previously known S94L and A217S mutant TRVP4 channels. The A217S mutation has been associated to mixed neuropathy and\/or skeletal dysplasia phenotypes, however, the PKD carriers of these variants had not been diagnosed with these reported clinical manifestations. The presence of certain mutations in TRPV4 may influence the progression and severity of PKD through GOF mechanisms. PKD patients carrying TRVP4 mutations are putatively more likely to require dialysis or renal transplant as compared to those without these mutations.<\/jats:p>","DOI":"10.1093\/function\/zqae031","type":"journal-article","created":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T02:54:51Z","timestamp":1718160891000},"source":"Crossref","is-referenced-by-count":1,"title":["Identification and Properties of TRPV4 Mutant Channels Present in Polycystic Kidney Disease Patients"],"prefix":"10.1152","volume":"5","author":[{"given":"Ana M","family":"Hern\u00e1ndez-Vega","sequence":"first","affiliation":[{"name":"Departamento de Neurociencia Cognitiva, Instituto de Fisiolog\u00eda Celular, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Ciudad de M\u00e9xico 04510 , Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Itzel","family":"Llorente","sequence":"additional","affiliation":[{"name":"Departamento de Neurociencia Cognitiva, Instituto de Fisiolog\u00eda Celular, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Ciudad de M\u00e9xico 04510 , Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ra\u00fal","family":"S\u00e1nchez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Departamento de Neurociencia Cognitiva, Instituto de Fisiolog\u00eda Celular, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Ciudad de M\u00e9xico 04510 , Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yayoi","family":"Segura","sequence":"additional","affiliation":[{"name":"Unidad de Biolog\u00eda Molecular y Medicina Gen\u00f3mica, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n , Ciudad de M\u00e9xico14080 , Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Tusi\u00e9-Luna","sequence":"additional","affiliation":[{"name":"Unidad de Biolog\u00eda Molecular y Medicina Gen\u00f3mica, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n , Ciudad de M\u00e9xico14080 , Mexico"},{"name":"Instituto de Investigaciones Biom\u00e9dicas, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Ciudad de M\u00e9xico 04510 , Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis E","family":"Morales-Buenrostro","sequence":"additional","affiliation":[{"name":"Departmento de Nefrolog\u00eda y Metabolismo Mineral, Instituto Nacional de Ciencias M\u00e9dicas y Nutrici\u00f3n Salvador Zubir\u00e1n , Ciudad de M\u00e9xico 14080 , M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Refugio","family":"Garc\u00eda-Villegas","sequence":"additional","affiliation":[{"name":"Departamento de Fisiolog\u00eda, Biof\u00edsica y Neurociencias, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Av. Instituto Polit\u00e9cnico Nacional 2508 , Ciudad de M\u00e9xico 07360 , Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Le\u00f3n D","family":"Islas","sequence":"additional","affiliation":[{"name":"Departamento de Fisiolog\u00eda, Facultad de Medicina. Universidad Nacional Aut\u00f3noma de M\u00e9xico , Ciudad de M\u00e9xico 04510 , Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4791-3195","authenticated-orcid":false,"given":"Tamara","family":"Rosenbaum","sequence":"additional","affiliation":[{"name":"Departamento de Neurociencia Cognitiva, Instituto de Fisiolog\u00eda Celular, Universidad Nacional Aut\u00f3noma de M\u00e9xico , Ciudad de M\u00e9xico 04510 , Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"24","published-online":{"date-parts":[[2024,6,13]]},"reference":[{"issue":"10174","key":"2024091011555637500_bib1","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/S0140-6736(18)32782-X","article-title":"Autosomal dominant polycystic kidney disease","volume":"393","author":"Cornec-Le\u00a0Gall","year":"2019","journal-title":"Lancet North Am 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