Establishment of a Knock-In Mouse Model with the SLC26A4 c.919-2A>G Mutation and Characterization of Its Pathology
暂无分享,去创建一个
Xi Lin | Chen-Chi Wu | Jau-Min Wong | Chuan-Jen Hsu | J. Wong | Shu-Wha Lin | I. Yu | Chuan-Jen Hsu | T. Yeh | Wen Shen | Pei-Jer Chen | Qing Chang | Ying-Chang Lu | Wen-Sheng Shen | Ting-Hua Yang | Te-Huei Yeh | I-Shing Yu | Shu-Wha Lin | Xi Lin | Q. Chang | Chen-Chi Wu | Ying-Chang Lu | Ting-hua Yang | Pei‐Jer Chen | Ying‐Chang Lu | Xi Lin
[1] J. Shih,et al. Mice Deficient in Collapsin Response Mediator Protein-1 Exhibit Impaired Long-Term Potentiation and Impaired Spatial Learning and Memory , 2007, The Journal of Neuroscience.
[2] S. Naganawa,et al. Long-term follow-up in patients with Pendred syndrome: vestibular, auditory and other phenotypes , 2005, European Archives of Oto-Rhino-Laryngology and Head & Neck.
[3] V. Lazar,et al. The Journal of Clinical Endocrinology & Metabolism Printed in U.S.A. Copyright © 2000 by The Endocrine Society Expression of Pendrin and the Pendred Syndrome (PDS) , 2022 .
[4] A. Oshima,et al. Clinical characteristics and genotype–phenotype correlation of hearing loss patients with SLC26A4 mutations , 2007, Acta oto-laryngologica.
[5] Chuan-Jen Hsu,et al. Specificity of SLC26A4 Mutations in the Pathogenesis of Inner Ear Malformations , 2005, Audiology and Neurotology.
[6] Richard J. H. Smith,et al. Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? , 2009, Mutation research.
[7] H. Fuchs,et al. Calcium Oxalate Stone Formation in the Inner Ear as a Result of an Slc26a4 Mutation*♦ , 2010, The Journal of Biological Chemistry.
[8] S. Masmoudi,et al. Two missense mutations in SLC26A4 gene: a molecular and functional study , 2009, Clinical genetics.
[9] S. Spicer,et al. Pathologic changes of presbycusis begin in secondary processes and spread to primary processes of strial marginal cells , 2005, Hearing Research.
[10] K. Arnos,et al. SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities , 2005, Journal of Medical Genetics.
[11] M. Kenna,et al. Delineating the Hearing Loss in Children With Enlarged Vestibular Aqueduct , 2008, The Laryngoscope.
[12] V. Sheffield,et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) , 1997, Nature Genetics.
[13] J. E. Hawkins,et al. Symposium on basic ear research. II. Strial atrophy in clinical and experimental deafness , 1972 .
[14] G. Frolenkov,et al. Expression and Localization of Prestin and the Sugar Transporter GLUT-5 during Development of Electromotility in Cochlear Outer Hair Cells , 2000, The Journal of Neuroscience.
[15] E. Green,et al. A mutation in PDS causes non-syndromic recessive deafness , 1998, Nature Genetics.
[16] E. Green,et al. Localization and Functional Studies of Pendrin in the Mouse Inner Ear Provide Insight About the Etiology of Deafness in Pendred Syndrome , 2003, Journal of the Association for Research in Otolaryngology.
[17] P. Wangemann,et al. Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model. , 2008, American journal of physiology. Renal physiology.
[18] J. E. Hawkins,et al. Strial atrophy in clinical and experimental deafness. , 1972, The Laryngoscope.
[19] Chuan-Jen Hsu,et al. Prevalent SLC26A4 Mutations in Patients with Enlarged Vestibular Aqueduct and/or Mondini Dysplasia: A Unique Spectrum of Mutations in Taiwan, Including a Frequent Founder Mutation , 2005, The Laryngoscope.
[20] E. Green,et al. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. , 2001, Human molecular genetics.
[21] D. Court,et al. A highly efficient Escherichia coli-based chromosome engineering system adapted for recombinogenic targeting and subcloning of BAC DNA. , 2001, Genomics.
[22] E. Green,et al. Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels. , 2007, American journal of physiology. Renal physiology.
[23] E. Green,et al. Expression pattern of the mouse ortholog of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[24] David S. Sharlin,et al. Developmental delays consistent with cochlear hypothyroidism contribute to failure to develop hearing in mice lacking Slc26a4/pendrin expression. , 2009, American journal of physiology. Renal physiology.
[25] L. Lan,et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China , 2007, Clinical genetics.
[26] Rick Kittles,et al. Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or coincidental polymorphisms? , 2009, Human mutation.
[27] D. Harada,et al. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese , 2004, European Journal of Human Genetics.
[28] P. Wangemann,et al. Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. , 2007, American journal of physiology. Renal physiology.
[29] Jiann-Jou Yang,et al. Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene , 2005, Hearing Research.
[30] Mustafa Tekin,et al. GJB2 mutations and degree of hearing loss: a multicenter study. , 2005, American journal of human genetics.
[31] H-S Jin,et al. Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans , 2004, Clinical genetics.
[32] Chuan-Jen Hsu,et al. Common Clinical Features of Children With Enlarged Vestibular Aqueduct and Mondini Dysplasia , 2005, The Laryngoscope.
[33] W. Kimberling,et al. Genotype–phenotype correlations for SLC26A4-related deafness , 2007, Human Genetics.
[34] E. Green,et al. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[35] V. Sheffield,et al. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). , 2000, Human molecular genetics.
[36] J. Niparko,et al. SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct , 2010, The Laryngoscope.