{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T09:36:50Z","timestamp":1778665010772,"version":"3.51.4"},"reference-count":91,"publisher":"Oxford University Press (OUP)","issue":"22","license":[{"start":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T00:00:00Z","timestamp":1608076800000},"content-version":"vor","delay-in-days":31,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["108907\/Z\/15\/Z"],"award-info":[{"award-number":["108907\/Z\/15\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,1,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Hearing loss is a frequent sensory impairment in humans and genetic factors account for an elevated fraction of the cases. We have investigated a large family of five generations, with 15 reported individuals presenting non-syndromic, sensorineural, bilateral and progressive hearing loss, segregating as an autosomal dominant condition. Linkage analysis, using SNP-array and selected microsatellites, identified a region of near 13 cM in chromosome 20 as the best candidate to harbour the causative mutation. After exome sequencing and filtering of variants, only one predicted deleterious variant in the NCOA3 gene (NM_181659, c.2810C\u2009&amp;gt;\u2009G; p.Ser937Cys) fit in with our linkage data. RT-PCR, immunostaining and in situ hybridization showed expression of ncoa3 in the inner ear of mice and zebrafish. We generated a stable homozygous zebrafish mutant line using the CRISPR\/Cas9 system. ncoa3\u2212\/\u2212 did not display any major morphological abnormalities in the ear, however, anterior macular hair cells showed altered orientation. Surprisingly, chondrocytes forming the ear cartilage showed abnormal behaviour in ncoa3\u2212\/\u2212, detaching from their location, invading the ear canal and blocking the cristae. Adult mutants displayed accumulation of denser material wrapping the otoliths of ncoa3\u2212\/\u2212 and increased bone mineral density. Altered zebrafish swimming behaviour corroborates a potential role of ncoa3 in hearing loss. In conclusion, we identified a potential candidate gene to explain hereditary hearing loss, and our functional analyses suggest subtle and abnormal skeletal behaviour as mechanisms involved in the pathogenesis of progressive sensory function impairment.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa240","type":"journal-article","created":{"date-parts":[[2020,10,23]],"date-time":"2020-10-23T15:11:26Z","timestamp":1603465886000},"page":"3691-3705","source":"Crossref","is-referenced-by-count":16,"title":["<i>NCOA3<\/i>\n                    identified as a new candidate to explain autosomal dominant progressive hearing loss"],"prefix":"10.1093","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7379-2115","authenticated-orcid":false,"given":"R","family":"Salazar-Silva","sequence":"first","affiliation":[{"name":"Centro de Pesquisas sobre o Genoma Humano e C\u00e9lulas-Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, 05508-090, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vitor Lima Goes","family":"Dantas","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas sobre o Genoma Humano e C\u00e9lulas-Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, 05508-090, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leandro Ucela","family":"Alves","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas sobre o Genoma Humano e C\u00e9lulas-Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, 05508-090, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carla","family":"Batissoco","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas sobre o Genoma Humano e C\u00e9lulas-Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, 05508-090, S\u00e3o Paulo, Brazil"},{"name":"Laborat\u00f3rio de Otorrinolaringologia\/LIM32 \u2013Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo , 01246-903, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanne","family":"Oiticica","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Otorrinolaringologia\/LIM32 \u2013Hospital das Cl\u00ednicas, Faculdade de Medicina, Universidade de S\u00e3o Paulo , 01246-903, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A","family":"Lawrence","sequence":"additional","affiliation":[{"name":"School of Pharmacology, Physiology and Neuroscience, University of Bristol, Bristol, BS8 1TD, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelwahab","family":"Kawafi","sequence":"additional","affiliation":[{"name":"School of Pharmacology, Physiology and Neuroscience, University of Bristol, Bristol, BS8 1TD, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yushi","family":"Yang","sequence":"additional","affiliation":[{"name":"School of Physics, University of Bristol, Bristol, BS8 1TL, United Kingdom"},{"name":"Centre for Nanoscience and Quantum Information, University of Bristol, Bristol, BS8 1FD, United Kingdom"},{"name":"Bristol Centre for Functional Nanomaterials, University of Bristol, Bristol, BS8 1FD, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda St\u00e1vale","family":"Nicastro","sequence":"additional","affiliation":[{"name":"Divis\u00e3o de Educa\u00e7\u00e3o e Reabilita\u00e7\u00e3o dos Dist\u00farbios da Comunica\u00e7\u00e3o da Pontif\u00edcia Universidade Cat\u00f3lica de S\u00e3o Paulo, 04022-040, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz Caiuby","family":"Novaes","sequence":"additional","affiliation":[{"name":"Divis\u00e3o de Educa\u00e7\u00e3o e Reabilita\u00e7\u00e3o dos Dist\u00farbios da Comunica\u00e7\u00e3o da Pontif\u00edcia Universidade Cat\u00f3lica de S\u00e3o Paulo, 04022-040, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chrissy","family":"Hammond","sequence":"additional","affiliation":[{"name":"School of Pharmacology, Physiology and Neuroscience, University of Bristol, Bristol, BS8 1TD, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Kague","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas sobre o Genoma Humano e C\u00e9lulas-Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, 05508-090, S\u00e3o Paulo, Brazil"},{"name":"School of Pharmacology, Physiology and Neuroscience, University of Bristol, Bristol, BS8 1TD, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R C","family":"Mingroni-Netto","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas sobre o Genoma Humano e C\u00e9lulas-Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva, Instituto de Bioci\u00eancias, Universidade de S\u00e3o Paulo, 05508-090, S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2020,12,17]]},"reference":[{"key":"2021111108575769300_ref1","article-title":"WHO|World Health Organization","author":"WHO| World Health Organization"},{"key":"2021111108575769300_ref2","volume-title":"Hereditary Hearing Loss and Deafness Overview","author":"Shearer","year":"1993"},{"key":"2021111108575769300_ref3","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1101\/gr.9.1.7","article-title":"Genomics and hearing impairment","volume":"9","author":"Keats","year":"1999","journal-title":"Genome Res."},{"key":"2021111108575769300_ref4","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.mcp.2015.03.008","article-title":"Non-syndromic hearing loss gene identification: a brief history and glimpse into the future","volume":"29","author":"Vona","year":"2015","journal-title":"Mol. Cell. Probes"},{"key":"2021111108575769300_ref5","doi-asserted-by":"crossref","first-page":"R89","DOI":"10.1186\/gb-2011-12-9-r89","article-title":"Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families","volume":"12","author":"Brownstein","year":"2011","journal-title":"Genome Biol."},{"key":"2021111108575769300_ref6","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0050628","article-title":"Whole-exome sequencing efficiently detects rare mutations in autosomal recessive Nonsyndromic hearing loss","volume":"7","author":"Diaz-Horta","year":"2012","journal-title":"PLoS One"},{"key":"2021111108575769300_ref7","article-title":"Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment","volume":"8","author":"Wu","year":"2013","journal-title":"PLoS One"},{"key":"2021111108575769300_ref8","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1002\/mgg3.260","article-title":"Genetic hearing loss: the journey of discovery to destination \u2013 how close are we to therapy?","volume":"4","author":"Pandya","year":"2016","journal-title":"Mol. Genet. Genomic Med."},{"key":"2021111108575769300_ref9","article-title":"Welcome to the hereditary hearing loss homepage | hereditary hearing loss homepage","author":"Welcome to the Hereditary Hearing Loss Homepage | Hereditary Hearing Loss Homepage"},{"key":"2021111108575769300_ref10","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/s00232-005-0832-x","article-title":"Gap junctions and cochlear homeostasis","volume":"209","author":"Zhao","year":"2006","journal-title":"J. Membr. Biol."},{"key":"2021111108575769300_ref11","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.1126\/science.278.5341.1315","article-title":"Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the drosophila gene diaphanous","volume":"278","author":"Lynch","year":"1997","journal-title":"Science"},{"key":"2021111108575769300_ref12","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/ncb1219","article-title":"Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia","volume":"7","author":"Belyantseva","year":"2005","journal-title":"Nat. Cell Biol."},{"key":"2021111108575769300_ref13","doi-asserted-by":"crossref","first-page":"1950","DOI":"10.1126\/science.279.5358.1950","article-title":"Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans","volume":"279","author":"Vahava","year":"1998","journal-title":"Science"},{"key":"2021111108575769300_ref14","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.ajhg.2007.09.008","article-title":"Mutations of ESRRB encoding Estrogen-related receptor Beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35","volume":"82","author":"Collin","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"2021111108575769300_ref15","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.mrrev.2008.08.002","article-title":"Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?","volume":"681","author":"Hilgert","year":"2009","journal-title":"Mutat. Res. Mutat. Res."},{"key":"2021111108575769300_ref16","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1002\/ajmg.a.38153","article-title":"A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss","volume":"173","author":"Gariballa","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"2021111108575769300_ref17","first-page":"948","article-title":"Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37","volume":"21","author":"Booth","year":"2019","journal-title":"Genet. Med. Off. J. Am. Coll. Med. Genet."},{"key":"2021111108575769300_ref18","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1002\/ajmg.a.61191","article-title":"Homozygous type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-expanding the phenotype","volume":"179","author":"Nixon","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"2021111108575769300_ref19","doi-asserted-by":"crossref","first-page":"6379","DOI":"10.1073\/pnas.120166297","article-title":"The steroid receptor coactivator SRC-3 (p\/CIP\/RAC3\/AIB1\/ACTR\/TRAM-1) is required for normal growth, puberty, female reproductive function, and mammary gland development","volume":"97","author":"Xu","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2021111108575769300_ref20","doi-asserted-by":"crossref","first-page":"17868","DOI":"10.1073\/pnas.0608711103","article-title":"Oncogenic steroid receptor coactivator-3 is a key regulator of the white adipogenic program","volume":"103","author":"Louet","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2021111108575769300_ref21","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/j.cmet.2012.03.020","article-title":"Ablation of steroid receptor Coactivator-3 resembles the human CACT metabolic myopathy","volume":"15","author":"York","year":"2012","journal-title":"Cell Metab."},{"key":"2021111108575769300_ref22","doi-asserted-by":"crossref","first-page":"6366","DOI":"10.1523\/JNEUROSCI.5126-14.2015","article-title":"Gene expression by mouse inner ear hair cells during development","volume":"35","author":"Scheffer","year":"2015","journal-title":"J. Neurosci."},{"key":"2021111108575769300_ref23","doi-asserted-by":"crossref","first-page":"11085","DOI":"10.1523\/JNEUROSCI.1690-14.2014","article-title":"Characterization of Transcriptomes of Cochlear inner and outer hair cells","volume":"34","author":"Liu","year":"2014","journal-title":"J. Neurosci."},{"key":"2021111108575769300_ref24","doi-asserted-by":"crossref","first-page":"2396","DOI":"10.1159\/000493839","article-title":"NCOA3 loss disrupts molecular signature of chondrocytes and promotes posttraumatic osteoarthritis progression","volume":"49","author":"Zhang","year":"2018","journal-title":"Cell. Physiol. Biochem. Int. J. Exp. Cell. Physiol. Biochem. Pharmacol."},{"key":"2021111108575769300_ref25","doi-asserted-by":"crossref","first-page":"2923","DOI":"10.1002\/art.39278","article-title":"Correlation of the osteoarthritis susceptibility variants that map to chromosome 20q13 with an expression quantitative trait locus operating on NCOA3 and with functional variation at the polymorphism rs116855380","volume":"67","author":"Gee","year":"2015","journal-title":"Arthritis Rheumatol. Hoboken NJ"},{"key":"2021111108575769300_ref26","doi-asserted-by":"crossref","first-page":"2130","DOI":"10.1136\/annrheumdis-2012-203114","article-title":"A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip","volume":"73","author":"Evangelou","year":"2014","journal-title":"Ann. Rheum. Dis."},{"key":"2021111108575769300_ref27","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1210\/jc.2005-0864","article-title":"Nuclear receptor Coactivator-3 alleles are associated with serum bioavailable testosterone, insulin-like growth Factor-1, and vertebral bone mass in men","volume":"91","author":"Sheu","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"2021111108575769300_ref28","doi-asserted-by":"crossref","first-page":"e2463","DOI":"10.1038\/cddis.2016.367","article-title":"Decreased expression of microRNA-17 and microRNA-20b promotes breast cancer resistance to taxol therapy by upregulation of NCOA3","volume":"7","author":"Ao","year":"2016","journal-title":"Cell Death Dis."},{"key":"2021111108575769300_ref29","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/dvdy.24195","article-title":"Mechanisms of otoconia and otolith development","volume":"244","author":"Lundberg","year":"2015","journal-title":"Dev. Dyn."},{"key":"2021111108575769300_ref30","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1242\/dev.116632","article-title":"Otolith tethering in the zebrafish otic vesicle requires Otogelin and \u03b1-Tectorin","volume":"142","author":"Stooke-Vaughan","year":"2015","journal-title":"Development"},{"key":"2021111108575769300_ref31","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0092109","article-title":"Strong static magnetic fields elicit swimming Behaviors consistent with direct vestibular stimulation in adult Zebrafish","volume":"9","author":"Ward","year":"2014","journal-title":"PLoS One"},{"key":"2021111108575769300_ref32","doi-asserted-by":"crossref","first-page":"5993","DOI":"10.1073\/pnas.1522512113","article-title":"ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice","volume":"113","author":"Diaz-Horta","year":"2016","journal-title":"Proc. Natl. Acad. Sci."},{"key":"2021111108575769300_ref33","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/j.bbrc.2016.09.148","article-title":"Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice","volume":"479","author":"Chen","year":"2016","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2021111108575769300_ref34","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1016\/j.bbrc.2016.08.070","article-title":"Vitamin D receptor deficiency impairs inner ear development in zebrafish","volume":"478","author":"Kwon","year":"2016","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"2021111108575769300_ref35","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/j.ajhg.2010.12.011","article-title":"Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42","volume":"88","author":"Borck","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"2021111108575769300_ref36","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1172\/JCI45693","article-title":"COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness","volume":"121","author":"Heeringa","year":"2011","journal-title":"J. Clin. Invest."},{"key":"2021111108575769300_ref37","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/j.ajhg.2012.09.002","article-title":"A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss","volume":"91","author":"Ameln","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"2021111108575769300_ref38","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005137","article-title":"HOMER2, a Stereociliary scaffolding protein, is essential for normal hearing in humans and mice","volume":"11","author":"Azaiez","year":"2015","journal-title":"PLoS Genet."},{"key":"2021111108575769300_ref39","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1002\/humu.22712","article-title":"Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99","volume":"36","author":"Li","year":"2015","journal-title":"Hum. Mutat."},{"key":"2021111108575769300_ref40","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1146\/annurev-med-051812-145316","article-title":"Nuclear receptor Coactivators: master regulators of human health and disease","volume":"65","author":"Dasgupta","year":"2014","journal-title":"Annu. Rev. Med."},{"key":"2021111108575769300_ref41","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1161\/01.CIR.0000018947.95555.65","article-title":"Steroid receptor Coactivator-3 is required for inhibition of neointima formation by estrogen","volume":"105","author":"Yuan","year":"2002","journal-title":"Circulation"},{"key":"2021111108575769300_ref42","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.devcel.2012.09.003","article-title":"Combinatorial assembly of developmental stage-specific enhancers controls gene expression programs during human erythropoiesis","volume":"23","author":"Xu","year":"2012","journal-title":"Dev. Cell"},{"key":"2021111108575769300_ref43","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1210\/me.2005-0310","article-title":"Steroid receptor Coactivator (SRC)-1 and SRC-3 differentially modulate tissue-specific activation functions of the progesterone receptor","volume":"20","author":"Han","year":"2006","journal-title":"Mol. Endocrinol."},{"key":"2021111108575769300_ref44","article-title":"The transcriptional Coactivators p\/CIP and SRC-1 control insulin resistance through IRS1 in obesity models","volume":"7","author":"Wang","year":"2012","journal-title":"PLoS One"},{"key":"2021111108575769300_ref45","doi-asserted-by":"crossref","first-page":"38295","DOI":"10.1074\/jbc.M112.373092","article-title":"Role of nuclear receptor Coactivator 3 (Ncoa3) in Pluripotency maintenance","volume":"287","author":"Wu","year":"2012","journal-title":"J. Biol. Chem."},{"key":"2021111108575769300_ref46","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1210\/me.2012-1324","article-title":"Research resource: tissue- and pathway-specific Metabolomic profiles of the steroid receptor Coactivator (SRC) family","volume":"27","author":"York","year":"2013","journal-title":"Mol. Endocrinol."},{"key":"2021111108575769300_ref47","doi-asserted-by":"crossref","first-page":"17187","DOI":"10.1073\/pnas.0808207105","article-title":"The genetic ablation of SRC-3 protects against obesity and improves insulin sensitivity by reducing the acetylation of PGC-1\u03b1","volume":"105","author":"Coste","year":"2008","journal-title":"Proc. Natl. Acad. Sci."},{"key":"2021111108575769300_ref48","doi-asserted-by":"crossref","first-page":"13549","DOI":"10.1073\/pnas.260463097","article-title":"Regulation of somatic growth by the p160 coactivator p\/CIP","volume":"97","author":"Wang","year":"2000","journal-title":"Proc. Natl. Acad. Sci."},{"key":"2021111108575769300_ref49","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1146\/annurev.genet.39.073003.105049","article-title":"The genetics of hearing and balance in Zebrafish","volume":"39","author":"Nicolson","year":"2005","journal-title":"Annu. Rev. Genet."},{"key":"2021111108575769300_ref50","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.devcel.2015.05.025","article-title":"Regeneration of sensory hair cells requires localized interactions between the Notch and Wnt pathways","volume":"34","author":"Romero-Carvajal","year":"2015","journal-title":"Dev. Cell"},{"key":"2021111108575769300_ref51","doi-asserted-by":"crossref","first-page":"4637","DOI":"10.1242\/dev.125.23.4637","article-title":"Delta-Notch signalling and the patterning of sensory cell differentiation in the zebrafish ear: evidence from the mind bomb mutant","volume":"125","author":"Haddon","year":"1998","journal-title":"Development"},{"key":"2021111108575769300_ref52","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0925-4773(01)00308-2","article-title":"Expression of proneural and neurogenic genes in the zebrafish lateral line primordium correlates with selection of hair cell fate in neuromasts","volume":"102","author":"Itoh","year":"2001","journal-title":"Mech. Dev."},{"key":"2021111108575769300_ref53","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1006\/dbio.2002.0820","article-title":"Neurogenin1 defines Zebrafish cranial sensory ganglia precursors","volume":"251","author":"Andermann","year":"2002","journal-title":"Dev. Biol."},{"key":"2021111108575769300_ref54","doi-asserted-by":"crossref","first-page":"2396","DOI":"10.1159\/000493839","article-title":"NCOA3 loss disrupts molecular signature of chondrocytes and promotes posttraumatic osteoarthritis progression","volume":"49","author":"Zhang","year":"2018","journal-title":"Cell. Physiol. Biochem."},{"key":"2021111108575769300_ref55","first-page":"1","article-title":"Microarray analysis of cartilage: comparison between damaged and non-weight-bearing healthy cartilage","volume":"0","author":"A\u015f\u0131k","year":"2019","journal-title":"Connect. Tissue Res."},{"key":"2021111108575769300_ref56","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1097\/00005537-200404000-00002","article-title":"The mechanism of hearing loss in Paget\u2019s disease of bone","volume":"114","author":"Monsell","year":"2004","journal-title":"Laryngoscope"},{"key":"2021111108575769300_ref57","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1093\/rheumatology\/ket007","article-title":"Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management","volume":"52","author":"Gregson","year":"2013","journal-title":"Rheumatol. Oxf. Engl."},{"key":"2021111108575769300_ref58","doi-asserted-by":"crossref","first-page":"3213","DOI":"10.1093\/hmg\/ddr234","article-title":"Grhl2 deficiency impairs otic development and hearing ability in a zebrafish model of the progressive dominant hearing loss DFNA28","volume":"20","author":"Han","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"2021111108575769300_ref59","article-title":"Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss","volume":"107906","author":"Vona","year":"2020","journal-title":"Hear. Res."},{"key":"2021111108575769300_ref60","doi-asserted-by":"crossref","DOI":"10.1186\/1471-2350-14-95","article-title":"OTOF mutation screening in Japanese severe to profound recessive hearing loss patients","volume":"14","author":"Iwasa","year":"2013","journal-title":"BMC Med. Genet."},{"key":"2021111108575769300_ref61","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1111\/j.1399-0004.2007.00833.x","article-title":"Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss","volume":"72","author":"Wagatsuma","year":"2007","journal-title":"Clin. Genet."},{"key":"2021111108575769300_ref62","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1034\/j.1399-0004.2003.00109.x","article-title":"The molecular genetics of Usher syndrome","volume":"63","author":"Ahmed","year":"2003","journal-title":"Clin. Genet."},{"key":"2021111108575769300_ref63","doi-asserted-by":"crossref","first-page":"2060","DOI":"10.1002\/ajmg.a.36017","article-title":"Confirmation of GRHL2 as the gene for the DFNA28 locus","volume":"161","author":"Vona","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"2021111108575769300_ref64","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1002\/ajmg.1320240204","article-title":"A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses","volume":"24","author":"Rogatko","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"2021111108575769300_ref65","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1093\/bioinformatics\/btq559","article-title":"Robust relationship inference in genome-wide association studies","volume":"26","author":"Manichaikul","year":"2010","journal-title":"Bioinformatics"},{"key":"2021111108575769300_ref66","doi-asserted-by":"crossref","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"GigaScience"},{"key":"2021111108575769300_ref67","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng786","article-title":"Merlin\u2014rapid analysis of dense genetic maps using sparse gene flow trees","volume":"30","author":"Abecasis","year":"2002","journal-title":"Nat. Genet."},{"key":"2021111108575769300_ref68","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with burrows\u2013wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"2021111108575769300_ref69","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res."},{"key":"2021111108575769300_ref70","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"2021111108575769300_ref71","article-title":"1000 genomes | a deep Catalog of human genetic variation.","author":"1000 Genomes | A Deep Catalog of Human Genetic Variation"},{"key":"2021111108575769300_ref72","article-title":"Exome variant server","author":"Exome Variant Server"},{"key":"2021111108575769300_ref73","article-title":"gnomAD","author":"gnomAD"},{"key":"2021111108575769300_ref74","article-title":"ABraOM: Brazilian genomic variants","author":"ABraOM: Brazilian genomic variants"},{"key":"2021111108575769300_ref75","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"2021111108575769300_ref76","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1146\/annurev.genom.7.080505.115630","article-title":"Predicting the effects of amino acid substitutions on protein function","volume":"7","author":"Ng","year":"2006","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"2021111108575769300_ref77","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0046688","article-title":"Predicting the functional effect of amino acid substitutions and Indels","volume":"7","author":"Choi","year":"2012","journal-title":"PLoS One"},{"key":"2021111108575769300_ref78","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"2021111108575769300_ref79","article-title":"Clustal omega &lt; multiple sequence alignment &lt; EMBL-EBI. Clustal omega &lt; multiple sequence alignment &lt; EMBL-EBI"},{"key":"2021111108575769300_ref80","doi-asserted-by":"crossref","first-page":"W636","DOI":"10.1093\/nar\/gkz268","article-title":"The EMBL-EBI search and sequence analysis tools APIs in 2019","volume":"47","author":"Madeira","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"2021111108575769300_ref81","volume-title":"International Guiding Principles for Biomedical Research Involving Animals (1985)","author":"Research, N. R. C. (US) I. for L. A. (2004) International Guiding Principles for Biomedical Research Involving Animals","year":"1985"},{"key":"2021111108575769300_ref82","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0088757","article-title":"HMGA2, the architectural transcription factor high mobility group, is expressed in the developing and mature mouse cochlea","volume":"9","author":"Smeti","year":"2014","journal-title":"PLoS One"},{"key":"2021111108575769300_ref83","article-title":"Zebrafish: housing and husbandry recommendations","volume":"0023677219869037","author":"Alestr\u00f6m","year":"2019","journal-title":"Lab. Anim."},{"key":"2021111108575769300_ref84","first-page":"3991","article-title":"Two populations of endochondral osteoblasts with differential sensitivity to hedgehog signalling","volume":"136","author":"Hammond","year":"2009","journal-title":"Dev. Camb. Engl."},{"key":"2021111108575769300_ref85","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/j.mod.2009.07.002","article-title":"Notch-responsive cells initiate the secondary transition in larval zebrafish pancreas","volume":"126","author":"Parsons","year":"2009","journal-title":"Mech. Dev."},{"key":"2021111108575769300_ref86","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1038\/nprot.2007.514","article-title":"High-resolution in situ hybridization to whole-mount zebrafish embryos","volume":"3","author":"Thisse","year":"2008","journal-title":"Nat. Protoc."},{"key":"2021111108575769300_ref87","doi-asserted-by":"crossref","first-page":"2798","DOI":"10.1242\/dev.153528","article-title":"Wnt signalling controls the response to mechanical loading during zebrafish joint development","volume":"144","author":"Brunt","year":"2017","journal-title":"Development"},{"key":"2021111108575769300_ref88","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.1001409","article-title":"NAD+ biosynthesis ameliorates a Zebrafish model of muscular dystrophy","volume":"10","author":"Goody","year":"2012","journal-title":"PLoS Biol."},{"key":"2021111108575769300_ref89","author":"Yang","year":"2020"},{"key":"2021111108575769300_ref90","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/s00348-005-0068-7","article-title":"A quantitative study of three-dimensional Lagrangian particle tracking algorithms","volume":"40","author":"Ouellette","year":"2006","journal-title":"Exp. Fluids"},{"key":"2021111108575769300_ref91","doi-asserted-by":"crossref","DOI":"10.1088\/0957-0233\/19\/7\/075105","article-title":"Tracking Lagrangian trajectories in position\u2013velocity space","volume":"19","author":"Xu","year":"2008","journal-title":"Meas. Sci. Technol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddaa240\/34928405\/ddaa240.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/29\/22\/3691\/41129589\/ddaa240.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/29\/22\/3691\/41129589\/ddaa240.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T06:29:02Z","timestamp":1723789742000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/29\/22\/3691\/6039452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,15]]},"references-count":91,"journal-issue":{"issue":"22","published-online":{"date-parts":[[2020,12,17]]},"published-print":{"date-parts":[[2021,1,21]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaa240","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.06.07.138909","asserted-by":"object"}]},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2020,11,15]]},"published":{"date-parts":[[2020,11,15]]}}}