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Showing 1 to 12 of 19 entries
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An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa.

Frontiers in genetics

Mittal R, Bencie N, Parrish JM, Liu G, Mittal J, Yan D, Liu XZ.
PMID: 29472945
Front Genet. 2018 Feb 08;9:9. doi: 10.3389/fgene.2018.00009. eCollection 2018.

No abstract available.

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Mittal R, Bencie N, Parrish JM, et al. An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa. Front Genet. 2018;9:9doi: 10.3389/fgene.2018.00009.
Mittal, R., Bencie, N., Parrish, J. M., Liu, G., Mittal, J., Yan, D., & Liu, X. Z. (2018). An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa. Frontiers in genetics, 99. https://doi.org/10.3389/fgene.2018.00009
Mittal, Rahul, et al. "An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa." Frontiers in genetics vol. 9 (2018): 9. doi: https://doi.org/10.3389/fgene.2018.00009
Mittal R, Bencie N, Parrish JM, Liu G, Mittal J, Yan D, Liu XZ. An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa. Front Genet. 2018 Feb 08;9:9. doi: 10.3389/fgene.2018.00009. eCollection 2018. PMID: 29472945; PMCID: PMC5809491.
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Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells.

Genes

Liu X, Lillywhite J, Zhu W, Huang Z, Clark AM, Gosstola N, Maguire CT, Dykxhoorn D, Chen ZY, Yang J.
PMID: 34070435
Genes (Basel). 2021 May 25;12(6). doi: 10.3390/genes12060805.

Usher syndrome (USH) is the leading cause of inherited combined hearing and vision loss. As an autosomal recessive trait, it affects 15,000 people in the United States alone and is responsible for ~21% of inherited blindness and 3 to...

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Liu X, Lillywhite J, Zhu W, et al. Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells. Genes (Basel). 2021;12(6)doi: 10.3390/genes12060805.
Liu, X., Lillywhite, J., Zhu, W., Huang, Z., Clark, A. M., Gosstola, N., Maguire, C. T., Dykxhoorn, D., Chen, Z. Y., & Yang, J. (2021). Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells. Genes, 12(6), . https://doi.org/10.3390/genes12060805
Liu, Xuezhong, et al. "Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells." Genes vol. 12,6 (2021). doi: https://doi.org/10.3390/genes12060805
Liu X, Lillywhite J, Zhu W, Huang Z, Clark AM, Gosstola N, Maguire CT, Dykxhoorn D, Chen ZY, Yang J. Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells. Genes (Basel). 2021 May 25;12(6). doi: 10.3390/genes12060805. PMID: 34070435; PMCID: PMC8227183.
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Pseudomonas aeruginosa Activates PKC-Alpha to Invade Middle Ear Epithelial Cells.

Frontiers in microbiology

Mittal R, Grati M, Yan D, Liu XZ.
PMID: 26973629
Front Microbiol. 2016 Mar 04;7:255. doi: 10.3389/fmicb.2016.00255. eCollection 2016.

Otitis media (OM) is a group of complex inflammatory disorders affecting the middle ear which can be acute or chronic. Chronic suppurative otitis media (CSOM) is a form of chronic OM characterized by tympanic membrane perforation and discharge. Despite...

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Mittal R, Grati M, Yan D, et al. Pseudomonas aeruginosa Activates PKC-Alpha to Invade Middle Ear Epithelial Cells. Front Microbiol. 2016;7:255doi: 10.3389/fmicb.2016.00255.
Mittal, R., Grati, M., Yan, D., & Liu, X. Z. (2016). Pseudomonas aeruginosa Activates PKC-Alpha to Invade Middle Ear Epithelial Cells. Frontiers in microbiology, 7255. https://doi.org/10.3389/fmicb.2016.00255
Mittal, Rahul, et al. "Pseudomonas aeruginosa Activates PKC-Alpha to Invade Middle Ear Epithelial Cells." Frontiers in microbiology vol. 7 (2016): 255. doi: https://doi.org/10.3389/fmicb.2016.00255
Mittal R, Grati M, Yan D, Liu XZ. Pseudomonas aeruginosa Activates PKC-Alpha to Invade Middle Ear Epithelial Cells. Front Microbiol. 2016 Mar 04;7:255. doi: 10.3389/fmicb.2016.00255. eCollection 2016. PMID: 26973629; PMCID: PMC4777741.
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A nonsense .

Proceedings of the National Academy of Sciences of the United States of America

Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY.
PMID: 34050020
Proc Natl Acad Sci U S A. 2021 Jun 01;118(22). doi: 10.1073/pnas.2019681118.

Genes that are primarily expressed in cochlear glia-like supporting cells (GLSs) have not been clearly associated with progressive deafness. Herein, we present a deafness locus mapped to chromosome 3p25.1 and an auditory neuropathy spectrum disorder (ANSD) gene,

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Jang MW, Oh DY, Yi E, et al. A nonsense . Proc Natl Acad Sci U S A. 2021;118(22)doi: 10.1073/pnas.2019681118.
Jang, M. W., Oh, D. Y., Yi, E., Liu, X., Ling, J., Kim, N., Sharma, K., Kim, T. Y., Lee, S., Kim, A. R., Kim, M. Y., Kim, M. A., Lee, M., Han, J. H., Han, J. J., Park, H. R., Kim, B. J., Lee, S. Y., Woo, D. H., Oh, J., Oh, S. J., Du, T., Koo, J. W., Oh, S. H., Shin, H. W., Seong, M. W., Lee, K. Y., Kim, U. K., Shin, J. B., Sang, S., Cai, X., Mei, L., He, C., Blanton, S. H., Chen, Z. Y., Chen, H., Liu, X., Nourbakhsh, A., Huang, Z., Kang, K. W., Park, W. Y., Feng, Y., Lee, C. J., & Choi, B. Y. (2021). A nonsense . Proceedings of the National Academy of Sciences of the United States of America, 118(22), . https://doi.org/10.1073/pnas.2019681118
Jang, Minwoo Wendy, et al. "A nonsense ." Proceedings of the National Academy of Sciences of the United States of America vol. 118,22 (2021). doi: https://doi.org/10.1073/pnas.2019681118
Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY. A nonsense . Proc Natl Acad Sci U S A. 2021 Jun 01;118(22). doi: 10.1073/pnas.2019681118. PMID: 34050020; PMCID: PMC8179140.
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Generation and characterization of a P2rx2 V60L mouse model for DFNA41.

Human molecular genetics

Chen X, Abad C, Chen ZY, Young JI, Gurumurthy CB, Walz K, Liu XZ.
PMID: 33791800
Hum Mol Genet. 2021 May 31;30(11):985-995. doi: 10.1093/hmg/ddab077.

P2RX2 encodes the P2X2 receptor, which is an adenosine triphosphate (ATP) gated (purinoreceptor) ion channel. P2RX2 c. 178G > T (p.V60L) mutation was previously identified in two unrelated Chinese families, as the cause of human DFNA41, a form of...

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Chen X, Abad C, Chen ZY, et al. Generation and characterization of a P2rx2 V60L mouse model for DFNA41. Hum Mol Genet. 2021;30(11):985-995doi: 10.1093/hmg/ddab077.
Chen, X., Abad, C., Chen, Z. Y., Young, J. I., Gurumurthy, C. B., Walz, K., & Liu, X. Z. (2021). Generation and characterization of a P2rx2 V60L mouse model for DFNA41. Human molecular genetics, 30(11), 985-995. https://doi.org/10.1093/hmg/ddab077
Chen, Xiaoya, et al. "Generation and characterization of a P2rx2 V60L mouse model for DFNA41." Human molecular genetics vol. 30,11 (2021): 985-995. doi: https://doi.org/10.1093/hmg/ddab077
Chen X, Abad C, Chen ZY, Young JI, Gurumurthy CB, Walz K, Liu XZ. Generation and characterization of a P2rx2 V60L mouse model for DFNA41. Hum Mol Genet. 2021 May 31;30(11):985-995. doi: 10.1093/hmg/ddab077. PMID: 33791800; PMCID: PMC8170843.
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Generation and characterization of a P2rx2 V60L mouse model for DFNA41.

Human molecular genetics

Chen X, Abad C, Chen ZY, Young JI, Gurumurthy CB, Walz K, Liu XZ.
PMID: 33791800
Hum Mol Genet. 2021 May 31;30(11):985-995. doi: 10.1093/hmg/ddab077.

P2RX2 encodes the P2X2 receptor, which is an adenosine triphosphate (ATP) gated (purinoreceptor) ion channel. P2RX2 c. 178G > T (p.V60L) mutation was previously identified in two unrelated Chinese families, as the cause of human DFNA41, a form of...

Cite
Chen X, Abad C, Chen ZY, et al. Generation and characterization of a P2rx2 V60L mouse model for DFNA41. Hum Mol Genet. 2021;30(11):985-995doi: 10.1093/hmg/ddab077.
Chen, X., Abad, C., Chen, Z. Y., Young, J. I., Gurumurthy, C. B., Walz, K., & Liu, X. Z. (2021). Generation and characterization of a P2rx2 V60L mouse model for DFNA41. Human molecular genetics, 30(11), 985-995. https://doi.org/10.1093/hmg/ddab077
Chen, Xiaoya, et al. "Generation and characterization of a P2rx2 V60L mouse model for DFNA41." Human molecular genetics vol. 30,11 (2021): 985-995. doi: https://doi.org/10.1093/hmg/ddab077
Chen X, Abad C, Chen ZY, Young JI, Gurumurthy CB, Walz K, Liu XZ. Generation and characterization of a P2rx2 V60L mouse model for DFNA41. Hum Mol Genet. 2021 May 31;30(11):985-995. doi: 10.1093/hmg/ddab077. PMID: 33791800; PMCID: PMC8170843.
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Review of Genotype-Phenotype Correlations in Usher Syndrome.

Ear and hearing

Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X.
PMID: 34039936
Ear Hear. 2021 May 25; doi: 10.1097/AUD.0000000000001066. Epub 2021 May 25.

Usher syndrome (USH) encompasses a group of clinically and genetically heterogenous disorders defined by the triad of sensorineural hearing loss (SNHL), vestibular dysfunction, and vision loss. USH is the most common cause of deaf blindness. USH is divided clinically...

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Nisenbaum E, Thielhelm TP, Nourbakhsh A, et al. Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear Hear. 2021;doi: 10.1097/AUD.0000000000001066.
Nisenbaum, E., Thielhelm, T. P., Nourbakhsh, A., Yan, D., Blanton, S. H., Shu, Y., Koehler, K. R., El-Amraoui, A., Chen, Z., Lam, B. L., & Liu, X. (2021). Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear and hearing, . https://doi.org/10.1097/AUD.0000000000001066
Nisenbaum, Eric, et al. "Review of Genotype-Phenotype Correlations in Usher Syndrome." Ear and hearing vol. (2021). doi: https://doi.org/10.1097/AUD.0000000000001066
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X. Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear Hear. 2021 May 25; doi: 10.1097/AUD.0000000000001066. Epub 2021 May 25. PMID: 34039936; PMCID: PMC8613301.
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Genetics and the Individualized Therapy of Vestibular Disorders.

Frontiers in neurology

Mei C, Dong H, Nisenbaum E, Thielhelm T, Nourbakhsh A, Yan D, Smeal M, Lundberg Y, Hoffer ME, Angeli S, Telischi F, Nie G, Blanton SH, Liu X.
PMID: 33613440
Front Neurol. 2021 Feb 05;12:633207. doi: 10.3389/fneur.2021.633207. eCollection 2021.

No abstract available.

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Mei C, Dong H, Nisenbaum E, et al. Genetics and the Individualized Therapy of Vestibular Disorders. Front Neurol. 2021;12:633207doi: 10.3389/fneur.2021.633207.
Mei, C., Dong, H., Nisenbaum, E., Thielhelm, T., Nourbakhsh, A., Yan, D., Smeal, M., Lundberg, Y., Hoffer, M. E., Angeli, S., Telischi, F., Nie, G., Blanton, S. H., & Liu, X. (2021). Genetics and the Individualized Therapy of Vestibular Disorders. Frontiers in neurology, 12633207. https://doi.org/10.3389/fneur.2021.633207
Mei, Christine, et al. "Genetics and the Individualized Therapy of Vestibular Disorders." Frontiers in neurology vol. 12 (2021): 633207. doi: https://doi.org/10.3389/fneur.2021.633207
Mei C, Dong H, Nisenbaum E, Thielhelm T, Nourbakhsh A, Yan D, Smeal M, Lundberg Y, Hoffer ME, Angeli S, Telischi F, Nie G, Blanton SH, Liu X. Genetics and the Individualized Therapy of Vestibular Disorders. Front Neurol. 2021 Feb 05;12:633207. doi: 10.3389/fneur.2021.633207. eCollection 2021. PMID: 33613440; PMCID: PMC7892966.
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Modifiers of hearing impairment in humans and mice.

Current genomics

Yan D, Liu XZ.
PMID: 21119891
Curr Genomics. 2010 Jun;11(4):269-78. doi: 10.2174/138920210791233054.

Lack of penetrance and variability of expression are common findings in nonsyndromic hearing loss with autosomal dominant mode of inheritance, but are also seen with recessive inheritance. Now we know that genotype cannot necessarily predict phenotype due to the...

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Yan D, Liu XZ. Modifiers of hearing impairment in humans and mice. Curr Genomics. 2010;11(4):269-78doi: 10.2174/138920210791233054.
Yan, D., & Liu, X. Z. (2010). Modifiers of hearing impairment in humans and mice. Current genomics, 11(4), 269-78. https://doi.org/10.2174/138920210791233054
Yan, Denise, and Liu, Xue-Zhong. "Modifiers of hearing impairment in humans and mice." Current genomics vol. 11,4 (2010): 269-78. doi: https://doi.org/10.2174/138920210791233054
Yan D, Liu XZ. Modifiers of hearing impairment in humans and mice. Curr Genomics. 2010 Jun;11(4):269-78. doi: 10.2174/138920210791233054. PMID: 21119891; PMCID: PMC2930666.
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Characterization of ATPase Activity of P2RX2 Cation Channel.

Frontiers in physiology

Mittal R, Grati M, Sedlacek M, Yuan F, Chang Q, Yan D, Lin X, Kachar B, Farooq A, Chapagain P, Zhang Y, Liu XZ.
PMID: 27252659
Front Physiol. 2016 May 24;7:186. doi: 10.3389/fphys.2016.00186. eCollection 2016.

P2X purinergic receptors are plasma membrane ATP-dependent cation channels that are broadly distributed in the mammalian tissues. P2RX2 is a modulator of auditory sensory hair cell mechanotransduction and plays an important role in hair cell tolerance to noise. In...

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Mittal R, Grati M, Sedlacek M, et al. Characterization of ATPase Activity of P2RX2 Cation Channel. Front Physiol. 2016;7:186doi: 10.3389/fphys.2016.00186.
Mittal, R., Grati, M., Sedlacek, M., Yuan, F., Chang, Q., Yan, D., Lin, X., Kachar, B., Farooq, A., Chapagain, P., Zhang, Y., & Liu, X. Z. (2016). Characterization of ATPase Activity of P2RX2 Cation Channel. Frontiers in physiology, 7186. https://doi.org/10.3389/fphys.2016.00186
Mittal, Rahul, et al. "Characterization of ATPase Activity of P2RX2 Cation Channel." Frontiers in physiology vol. 7 (2016): 186. doi: https://doi.org/10.3389/fphys.2016.00186
Mittal R, Grati M, Sedlacek M, Yuan F, Chang Q, Yan D, Lin X, Kachar B, Farooq A, Chapagain P, Zhang Y, Liu XZ. Characterization of ATPase Activity of P2RX2 Cation Channel. Front Physiol. 2016 May 24;7:186. doi: 10.3389/fphys.2016.00186. eCollection 2016. PMID: 27252659; PMCID: PMC4878533.
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Genetic screening revealed usher syndrome in a paediatric Chinese patient.

Hearing, balance and communication

Qu C, Liang F, Long Q, Zhao M, Shang H, Fan L, Wang L, Foster J, Yan D, Liu X.
PMID: 30800556
Hearing Balance Commun. 2017;15(2):98-106. doi: 10.1080/21695717.2017.1321217. Epub 2017 May 04.

INTRODUCTION: Usher syndrome is the most common cause of hereditary deaf-blindness. Three clinical subtypes have been classified. Usher syndrome type I is the most severe subtype characterized by congenital severe-to-profound hearing loss, retinitis pigmentosa and vestibular dysfunction.METHODS: One family...

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Qu C, Liang F, Long Q, et al. Genetic screening revealed usher syndrome in a paediatric Chinese patient. Hearing Balance Commun. 2017;15(2):98-106doi: 10.1080/21695717.2017.1321217.
Qu, C., Liang, F., Long, Q., Zhao, M., Shang, H., Fan, L., Wang, L., Foster, J., Yan, D., & Liu, X. (2017). Genetic screening revealed usher syndrome in a paediatric Chinese patient. Hearing, balance and communication, 15(2), 98-106. https://doi.org/10.1080/21695717.2017.1321217
Qu, Chunyan, et al. "Genetic screening revealed usher syndrome in a paediatric Chinese patient." Hearing, balance and communication vol. 15,2 (2017): 98-106. doi: https://doi.org/10.1080/21695717.2017.1321217
Qu C, Liang F, Long Q, Zhao M, Shang H, Fan L, Wang L, Foster J, Yan D, Liu X. Genetic screening revealed usher syndrome in a paediatric Chinese patient. Hearing Balance Commun. 2017;15(2):98-106. doi: 10.1080/21695717.2017.1321217. Epub 2017 May 04. PMID: 30800556; PMCID: PMC6383562.
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Review of Genotype-Phenotype Correlations in Usher Syndrome.

Ear and hearing

Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X.
PMID: 34039936
Ear Hear. 2021 May 25;43(1):1-8. doi: 10.1097/AUD.0000000000001066.

Usher syndrome (USH) encompasses a group of clinically and genetically heterogenous disorders defined by the triad of sensorineural hearing loss (SNHL), vestibular dysfunction, and vision loss. USH is the most common cause of deaf blindness. USH is divided clinically...

Cite
Nisenbaum E, Thielhelm TP, Nourbakhsh A, et al. Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear Hear. 2021;43(1):1-8doi: 10.1097/AUD.0000000000001066.
Nisenbaum, E., Thielhelm, T. P., Nourbakhsh, A., Yan, D., Blanton, S. H., Shu, Y., Koehler, K. R., El-Amraoui, A., Chen, Z., Lam, B. L., & Liu, X. (2021). Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear and hearing, 43(1), 1-8. https://doi.org/10.1097/AUD.0000000000001066
Nisenbaum, Eric, et al. "Review of Genotype-Phenotype Correlations in Usher Syndrome." Ear and hearing vol. 43,1 (2021): 1-8. doi: https://doi.org/10.1097/AUD.0000000000001066
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X. Review of Genotype-Phenotype Correlations in Usher Syndrome. Ear Hear. 2021 May 25;43(1):1-8. doi: 10.1097/AUD.0000000000001066. PMID: 34039936; PMCID: PMC8613301.
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Showing 1 to 12 of 19 entries