Xue Z Liu

Professor

  • 6351 Citations
1993 …2023
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Research Output 1993 2019

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Article
2019
1 Citation (Scopus)

A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review

Li, T., Feng, Y., Liu, Y., He, C., Liu, J., Chen, H., Deng, Y., Li, M., Li, W., Song, J., Niu, Z., Sang, S., Wen, J., Men, M., Chen, X., Li, J., Liu, X. Z. & Ling, J., Jul 1 2019, In : Gene. 704, p. 113-120 8 p.

Research output: Contribution to journalArticle

Usher Syndromes
Genotype
Phenotype
Deaf-Blind Disorders
Exome
3 Citations (Scopus)

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

on behalf of the ClinGen Hearing Loss Clinical Domain Working Group, Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Hearing Loss
Genome
Genes
Genetic Testing
Registries
1 Citation (Scopus)
Open Access
Induced Pluripotent Stem Cells
Audition
Stem cells
Hearing Loss
Oligonucleotides

Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis

Li, M., Mei, L., He, C., Chen, H., Cai, X., Liu, Y., Tian, R., Tian, Q., Song, J., Jiang, L., Liu, C., Wu, H., Li, T., Liu, J., Li, X., Yi, Y., Yan, D., Blanton, S. H., Hu, Z., Liu, X. & 3 others, Li, J., Ling, J. & Feng, Y., Jan 1 2019, In : Genetics in Medicine.

Research output: Contribution to journalArticle

Cochlea
Medical Genetics
Fluorescent Antibody Technique
Stria Vascularis
Exome

New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing

Li, W., Mei, L., Chen, H., Cai, X., Liu, Y., Men, M., Liu, X. Z., Yan, D., Ling, J., Feng, Y. & Dorszewska, J., Jan 1 2019, In : Neural Plasticity. 2019, 7143458.

Research output: Contribution to journalArticle

Open Access
Waardenburg Syndrome
Genotype
Phenotype
Melanosis
Amblyopia
1 Citation (Scopus)

Otopathogenic Staphylococcus aureus Invades Human Middle Ear Epithelial Cells Primarily through Cholesterol Dependent Pathway

Mittal, R., Debs, L. H., Patel, A. P., Nguyen, D., Blackwelder, P., Yan, D., Weckwerth, P. H. & Liu, X. Z., Dec 1 2019, In : Scientific reports. 9, 1, 10777.

Research output: Contribution to journalArticle

Open Access
Middle Ear
Suppurative Otitis Media
Staphylococcus aureus
Epithelial Cells
Cholesterol
2 Citations (Scopus)

Preclinical assessment of MEK1/2 inhibitors for neurofibromatosis type 2-associated schwannomas reveals differences in efficacy and drug resistance development

Fuse, M. A., Dinh, C. T., Vitte, J., Kirkpatrick, J., Mindos, T., Plati, S. K., Young, J., Huang, J., Carlstedt, A., Franco, M. C., Brnjos, K., Nagamoto, J., Petrilli, A. M., Copik, A. J., Soulakova, J. N., Bracho, O., Yan, D., Mittal, R., Shen, R., Telischi, F. F. & 5 others, Morrison, H., Giovannini, M., Liu, X. Z., Chang, L. S. & Fernandez-Valle, C., Mar 18 2019, In : Neuro-Oncology. 21, 4, p. 486-497 12 p.

Research output: Contribution to journalArticle

Neurofibromatosis 2
Neurilemmoma
Drug Resistance
Acoustic Neuroma
Neurofibromin 2

The Generation of Zebrafish Mariner Model Using the CRISPR/Cas9 System

Zou, B., Desmidt, A. A., Mittal, R., Yan, D., Richmond, M., Tekin, M., Liu, X. & Lu, Z., Jan 1 2019, (Accepted/In press) In : Anatomical Record.

Research output: Contribution to journalArticle

Clustered Regularly Interspaced Short Palindromic Repeats
nucleases
Zebrafish
Danio rerio
mutants
1 Citation (Scopus)

Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1

DeSmidt, A. A., Zou, B., Grati, M., Yan, D., Mittal, R., Yao, Q., Richmond, M. T., Denyer, S., Liu, X. Z. & Lu, Z., Jan 1 2019, In : Anatomical Record.

Research output: Contribution to journalArticle

deafness
Ribose-Phosphate Pyrophosphokinase
Deafness
Zebrafish
Danio rerio
2018
4 Citations (Scopus)

A dominant variant in the PDE1C gene is associated with nonsyndromic hearing loss

Wang, L., Feng, Y., Yan, D., Qin, L., Grati, M., Mittal, R., Li, T., Sundhari, A. K., Liu, Y., Chapagain, P., Blanton, S. H., Liao, S. & Liu, X. Z., Jun 2 2018, (Accepted/In press) In : Human Genetics. p. 1-10 10 p.

Research output: Contribution to journalArticle

Phosphoric Diester Hydrolases
Exome
Inner Auditory Hair Cells
Genes
Genetic Heterogeneity

Amino acid 118 in the deafness causing (DFNA20/26) ACTG1 gene is a mutational hot spot

Wang, L., Yan, D., Qin, L., Li, T., Liu, H., Li, W., Mittal, R., Yong, F., Chapagain, P., Liao, S. & Liu, X. Z., Jun 1 2018, In : Gene Reports. 11, p. 264-269 6 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Amino Acids
Genes
Mutation
3 Citations (Scopus)

A novel splicing mutation in SMPX is linked to nonsyndromic progressive hearing loss

Niu, Z., Yan, D., Bressler, S., Mei, L., Feng, Y. & Liu, X. Z., Jan 1 2018, In : International Journal of Pediatric Otorhinolaryngology. 104, p. 47-50 4 p.

Research output: Contribution to journalArticle

Hearing Loss
Exome
Mutation
Frameshift Mutation
Nonsense Codon
2 Citations (Scopus)

A xenograft model of vestibular schwannoma and hearing loss

Dinh, C. T., Bracho, O., Mei, C., Bas Infante, E., Fernandez-Valle, C., Telischi, F. F. & Liu, X. Z., Jun 1 2018, In : Otology and Neurotology. 39, 5, p. e362-e369

Research output: Contribution to journalArticle

Acoustic Neuroma
Hearing Loss
Heterografts
Neoplasms
Vestibulocochlear Nerve
3 Citations (Scopus)

ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss

Li, W., Sun, J., Ling, J., Li, J., He, C., Liu, Y., Chen, H., Men, M., Niu, Z., Deng, Y., Li, M., Li, T., Wen, J., Sang, S., Li, H., Wan, Z., Richard, E. M., Chapagain, P., Yan, D., Liu, X. Z. & 2 others, Mei, L. & Feng, Y., Apr 1 2018, In : Human Genetics. 137, 4, p. 329-342 14 p.

Research output: Contribution to journalArticle

Genes
Hearing
Cell Movement
Exome
GTPase-Activating Proteins
3 Citations (Scopus)

First locally acquired congenital zika syndrome case in the United States: Neonatal clinical manifestations

Ventura, C. V., Bandstra, E. S., Fernandez, M. P., Cooper, J. M., Saigal, G., Bauer, C. R., Hofheimer, J. A., Berkovits, M., Fifer, R., Pensirikul, A., Gonzalez, I., Curry, C., Andreansky, S., Younis, R. T., Liu, X. Z., Banker, T., Dubovy, S., Langer, S. M. & Berrocal, A., Sep 1 2018, In : Ophthalmic Surgery Lasers and Imaging Retina. 49, 9, p. e93-e98

Research output: Contribution to journalArticle

Neutralization Tests
Microcephaly
First Pregnancy Trimester
Nerve Fibers
Nausea

Fluorescent detection of Merlin-deficient Schwann cells and primary human vestibular schwannoma cells using sodium fluorescein

Perez, E. R., Bracho, O., Ein, L., Szczupak, M., Monje, P. V., Fernandez-Valle, C., Alshaiji, A., Ivan, M., Morcos, J., Liu, X. Z., Hoffer, M. E., Eshraghi, A., Angeli, S. I., Telischi, F. F. & Dinh, C. T., Jan 1 2018, In : Otology and Neurotology. 39, 8, p. 1053-1059 7 p.

Research output: Contribution to journalArticle

Neurofibromin 2
Acoustic Neuroma
Schwann Cells
Fluorescein
Fluorescence
4 Citations (Scopus)

Precision medicine in hearing loss

Rudman, J. R., Mei, C., Bressler, S. E., Blanton, S. H. & Liu, X. Z., Jan 1 2018, (Accepted/In press) In : Journal of Genetics and Genomics.

Research output: Contribution to journalArticle

Precision Medicine
Hearing Loss
Electronic Health Records
Genomics
Hearing
5 Citations (Scopus)

Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis

Shang, H., Yan, D., Tayebi, N., Saeidi, K., Sahebalzamani, A., Feng, Y., Blanton, S. H. & Liu, X. Z., Jan 1 2018, In : BioMed Research International. 2018, 3103986.

Research output: Contribution to journalArticle

Deafness
Genes
Audition
Sensation Disorders
Recessive Genes
2017
7 Citations (Scopus)

A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family

Niu, Z., Feng, Y., Mei, L., Sun, J., Wang, X., Wang, J., Hu, Z., Dong, Y., Chen, H., He, C., Liu, Y., Cai, X., Liu, X. Z. & Jiang, L., May 1 2017, In : PLoS One. 12, 5, e0178384.

Research output: Contribution to journalArticle

frameshift mutation
Frameshift Mutation
Audition
hearing
Hearing Loss
5 Citations (Scopus)

Combination therapy with c-Met and Src inhibitors induces caspase-dependent apoptosis of merlin-deficient Schwann cells and suppresses growth of schwannoma cells

Fuse, M. A., Plati, S. K., Burns, S. S., Dinh, C. T., Bracho, O., Yan, D., Mittal, R., Shen, R., Soulakova, J. N., Copik, A. J., Liu, X. Z., Telischi, F. F., Chang, L. S., Franco, M. C. & Fernandez-Valle, C., Nov 1 2017, In : Molecular Cancer Therapeutics. 16, 11, p. 2387-2398 12 p.

Research output: Contribution to journalArticle

Neurofibromin 2
Neurofibromatosis 2
Caspase Inhibitors
Schwann Cells
Neurilemmoma
1 Citation (Scopus)

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family

Niu, Z., Feng, Y., Hu, Z., Li, J., Sun, J., Chen, H., He, C., Wang, X., Jiang, L., Liu, Y., Cai, X., Wang, L., Cai, Y., Liu, X. Z. & Mei, L., Sep 1 2017, In : International Journal of Pediatric Otorhinolaryngology. 100, p. 1-7 7 p.

Research output: Contribution to journalArticle

Exome
Sensorineural Hearing Loss
Missense Mutation
Pedigree
Hearing Loss
9 Citations (Scopus)

Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss

Cai, X. Z., Li, Y., Xia, L., Peng, Y., He, C. F., Jiang, L., Feng, Y., Xia, K., Liu, X. Z., Mei, L. Y. & Hu, Z. M., Feb 1 2017, In : Journal of Human Genetics. 62, 2, p. 317-320 4 p.

Research output: Contribution to journalArticle

Exome
Hearing Loss
Deafness
Genes
Sensation Disorders

Genetic screening revealed usher syndrome in a paediatric Chinese patient

Qu, C., Liang, F., Long, Q., Zhao, M., Shang, H., Fan, L., Wang, L., Yan, D. & Liu, X. Z., Apr 3 2017, In : Hearing, Balance and Communication. 15, 2, p. 98-106 9 p.

Research output: Contribution to journalArticle

Usher Syndromes
Genetic Testing
Hearing Loss
Pediatrics
Missense Mutation
7 Citations (Scopus)

Ponatinib promotes a G1 cell-cycle arrest of merlin/NF2-deficient human schwann cells

Petrilli, A. M., Garcia, J., Bott, M., Plati, S. K., Dinh, C. T., Bracho, O. R., Yan, D., Zou, B., Mittal, R., Telischi, F. F., Liu, X. Z., Chang, L. S., Welling, D. B., Copik, A. J. & Fernández-Valle, C., 2017, In : Oncotarget. 8, 19, p. 31666-31681 16 p.

Research output: Contribution to journalArticle

Neurofibromatosis 2
G1 Phase Cell Cycle Checkpoints
Neurofibromin 2
Schwann Cells
Platelet-Derived Growth Factor Receptors
12 Citations (Scopus)

Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Yan, D., Xiang, G., Chai, X., Qing, J., Shang, H., Mittal, B. Z. R., Shen, J., Smith, R. J. H., Fan, Y-S., Blanton, S. H., Tekin, M., Morton, C., Xing, W., Cheng, J. & Liu, X. Z., Mar 1 2017, In : PLoS One. 12, 3, e0169219.

Research output: Contribution to journalArticle

deafness
Audition
hearing
Deafness
Microarrays
4 Citations (Scopus)

Signaling in the Auditory System: Implications in Hair Cell Regeneration and Hearing Function

Mittal, R., Debs, L. H., Nguyen, D., Patel, A. P., Grati, M., Mittal, J., Yan, D., Eshraghi, A. & Liu, X. Z., 2017, (Accepted/In press) In : Journal of Cellular Physiology.

Research output: Contribution to journalArticle

Audition
Hearing
Regeneration
Cells
Ear
4 Citations (Scopus)

The advances in hearing rehabilitation and cochlear implants in China

Li, J. N., Chen, S., Zhai, L., Han, D. Y., Eshraghi, A., Feng, Y., Yang, S. M. & Liu, X. Z., Jan 1 2017, In : Ear and Hearing. 38, 6, p. 647-652 6 p.

Research output: Contribution to journalArticle

Cochlear Implants
Hearing
China
Rehabilitation
Cochlear Implantation
2016

Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A > G mutation

Zhang, J., Liu, Z., Chang, A., Fang, J., Men, Y., Tian, Y., Ouyang, X., Yan, D., Zhang, A., Sun, X., Tang, J., Liu, X. Z., Zuo, J. & Gao, J., Aug 1 2016, In : Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis. 790, p. 1-7 7 p.

Research output: Contribution to journalArticle

Brain Stem Auditory Evoked Potentials
Messenger RNA
Mutation
Deafness
Hearing
9 Citations (Scopus)

A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60

Ben Said, M., Grati, M., Ishimoto, T., Zou, B., Chakchouk, I., Ma, Q., Yao, Q., Hammami, B., Yan, D., Mittal, R., Nakamichi, N., Ghorbel, A., Neng, L., Tekin, M., Shi, X. R., Kato, Y., Masmoudi, S., Lu, Z., Hmani, M. & Liu, X. Z., May 1 2016, In : Human Genetics. 135, 5, p. 513-524 12 p.

Research output: Contribution to journalArticle

Cochlea
Hearing Loss
Endothelium
Cations
Mutation
20 Citations (Scopus)

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

Tekin, D., Yan, D., Bademci, G., Feng, Y., Guo, S., Foster, J., Blanton, S. H., Tekin, M. & Liu, X. Z., Mar 1 2016, In : Hearing Research. 333, p. 179-184 6 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Genes
Exons
Databases
4 Citations (Scopus)

Characterization of ATPase activity of P2RX2 cation channel

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, In : Frontiers in Physiology. 7, MAY, 186.

Research output: Contribution to journalArticle

Adenosine Triphosphatases
Cations
Adenosine Triphosphate
Ion Channel Gating
Hydrolysis
8 Citations (Scopus)
Unilateral Hearing Loss
Hearing Aids
Noise
Bone and Bones
Hearing
13 Citations (Scopus)

CRISPR: a versatile tool for both forward and reverse genetics research

Gurumurthy, C. B., Grati, M., Ohtsuka, M., Schilit, S. L. P., Quadros, R. M. & Liu, X. Z., Sep 1 2016, In : Human Genetics. 135, 9, p. 971-976 6 p.

Research output: Contribution to journalArticle

Clustered Regularly Interspaced Short Palindromic Repeats
Reverse Genetics
Genetic Research
Medical Genetics
Mutation
6 Citations (Scopus)

Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention

Kim, S. Y., Kim, A. R., Kim, N. K. D., Lee, C., Han, J. H., Kim, M. Y., Jeon, E. H., Park, W. Y., Mittal, R., Yan, D., Liu, X. Z. & Choi, B. Y., Nov 1 2016, In : Journal of Gene Medicine. 18, 11-12, p. 353-358 6 p.

Research output: Contribution to journalArticle

Ribose-Phosphate Pyrophosphokinase
Sensorineural Hearing Loss
Mutation
Genetic Testing
Therapeutics
11 Citations (Scopus)

Hearing Assessment in Zebrafish during the First Week Postfertilization

Yao, Q., Desmidt, A. A., Tekin, M., Liu, X. Z. & Lu, Z., Apr 1 2016, In : Zebrafish. 13, 2, p. 79-86 8 p.

Research output: Contribution to journalArticle

hearing
Zebrafish
Danio rerio
Hearing
Otolithic Membrane
17 Citations (Scopus)

Indispensable Role of Ion Channels and Transporters in the Auditory System

Mittal, R., Aranke, M., Debs, L. H., Nguyen, D., Patel, A. P., Grati, M., Mittal, J., Yan, D., Chapagain, P., Eshraghi, A. & Liu, X. Z., 2016, (Accepted/In press) In : Journal of Cellular Physiology.

Research output: Contribution to journalArticle

Audition
Endolymph
Ion Channels
Ear
Meniere Disease
7 Citations (Scopus)

MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform

Grati, M., Yan, D., Raval, M. H., Walsh, T., Ma, Q., Chakchouk, I., Kannan-Sundhari, A., Mittal, R., Masmoudi, S., Blanton, S. H., Tekin, M., King, M. C., Yengo, C. M. & Liu, X. Z., 2016, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Stereocilia
Deafness
Protein Isoforms
Molecular Motor Proteins
Hearing Loss
4 Citations (Scopus)

Otopathogenic Pseudomonas aeruginosa enters and survives inside macrophages

Mittal, R., Lisi, C. V., Kumari, H., Grati, M., Blackwelder, P., Yan, D., Jain, C., Mathee, K., Weckwerth, P. H. & Liu, X. Z., Nov 18 2016, In : Frontiers in Microbiology. 7, NOV, 1828.

Research output: Contribution to journalArticle

Pseudomonas aeruginosa
Macrophages
Suppurative Otitis Media
Otitis Media
Host-Pathogen Interactions
9 Citations (Scopus)

PDZD7-MYO7A complex identified in enriched stereocilia membranes

Morgan, C. P., Krey, J. F., Grati, M., Zhao, B., Fallen, S., Kannan-Sundhari, A., Liu, X. Z., Choi, D., Müller, U. & Barr-Gillespie, P. G., Aug 15 2016, In : eLife. 5, AUGUST, e18312.

Research output: Contribution to journalArticle

Stereocilia
Cells
Membranes
Deafness
Genes
5 Citations (Scopus)

Pseudomonas aeruginosa activates PKC-alpha to invade middle ear epithelial cells

Mittal, R., Grati, M., Yan, D. & Liu, X. Z., Mar 4 2016, In : Frontiers in Microbiology. 7, MAR, 255.

Research output: Contribution to journalArticle

Middle Ear
Suppurative Otitis Media
Pseudomonas aeruginosa
Epithelial Cells
Otitis Media
8 Citations (Scopus)

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice

Diaz-Horta, O., Abad, C., Sennaroglu, L., Ii, J. F., DeSmidt, A., Bademci, G., Tokgoz-Yilmaz, S., Duman, D., Cengiz, F. B., Grati, MH., Fitoz, S., Liu, X. Z., Farooq, A., Imtiaz, F., Currall, B. B., Morton, C. C., Nishita, M., Minami, Y., Lu, Z., Walz, K. & 1 others, Tekin, M., May 24 2016, In : Proceedings of the National Academy of Sciences of the United States of America. 113, 21, p. 5993-5998 6 p.

Research output: Contribution to journalArticle

Auditory Hair Cells
Inner Ear
Receptor Tyrosine Kinase-like Orphan Receptors
Hearing
Spiral Ganglion
18 Citations (Scopus)

Serotonin Activates Bacterial Quorum Sensing and Enhances the Virulence of Pseudomonas aeruginosa in the Host

Knecht, L. D., O'Connor, G., Mittal, R., Liu, X. Z., Daftarian, P., Deo, S. K. & Daunert, S., Feb 2 2016, (Accepted/In press) In : EBioMedicine.

Research output: Contribution to journalArticle

Quorum Sensing
Pseudomonas aeruginosa
Virulence
Serotonin
Bacteria
38 Citations (Scopus)

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Yan, D., Tekin, D., Bademci, G., Foster, J., Cengiz, F. B., Kannan-Sundhari, A., Guo, S., Mittal, R., Zou, B., Grati, M., Kabahuma, R. I., Kameswaran, M., Lasisi, T. J., Adedeji, W. A., Lasisi, A. O., Menendez, I., Herrera, M., Carranza, C., Maroofian, R., Crosby, A. H. & 11 others, Bensaid, M., Masmoudi, S., Behnam, M., Mojarrad, M., Feng, Y., Duman, D., Mawla, A. M., Nord, A. S., Blanton, S. H., Liu, X. Z. & Tekin, M., Aug 1 2016, In : Human Genetics. 135, 8, p. 953-961 9 p.

Research output: Contribution to journalArticle

Deafness
DNA
Guatemala
Genes
Iran
5 Citations (Scopus)

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Manzoli, G. N., Bademci, G., Acosta, A. X., Félix, T. M., Cengiz, F. B., Foster, J., Da Silva, D. S. D., Menendez, I., Sanchez-Pena, I., Tekin, D., Blanton, S. H., Abe-Sandes, K., Liu, X. Z. & Tekin, M., Nov 1 2016, In : Annals of Human Genetics. 80, 6, p. 327-331 5 p.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Brazil
Genes
Genetic Heterogeneity
11 Citations (Scopus)

The genetic basis of deafness in populations of African descent

Rudman, J. R., Kabahuma, R. I., Bressler, S. E., Feng, Y., Blanton, S. H., Yan, D. & Liu, X. Z., Dec 20 2016, (Accepted/In press) In : Journal of Genetics and Genomics.

Research output: Contribution to journalArticle

Deafness
Hearing Loss
Mutation
Population
Connexins

The role of transcription factors of neurosensory cells in non-syndromic sensorineural hearing loss with or without inner ear malformation

Zhou, Y., Qing, J., Dong, Y., Nie, J., Li, J., Wang, C., Liu, Y., Peng, T., Duan, M., Liu, X. Z. & Xie, DI., Mar 3 2016, In : Acta Oto-Laryngologica. 136, 3, p. 277-282 6 p.

Research output: Contribution to journalArticle

Sensorineural Hearing Loss
Inner Ear
Transcription Factors
Genes
Control Groups
2015
42 Citations (Scopus)

Amissense mutation in DCDC2 causeshuman recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

Grati, M., Chakchouk, I., Ma, Q., Bensaid, M., Desmidt, A., Turki, N., Yan, D., Baanannou, A., Mittal, R., Driss, N., Blanton, S. H., Farooq, A., Lu, Z., Liu, X. Z. & Masmoudi, S., 2015, In : Human Molecular Genetics. 24, 9, p. 2482-2491 10 p.

Research output: Contribution to journalArticle

Cilia
Deafness
Mutation
Microtubules
Zebrafish
27 Citations (Scopus)

Association of PRPS1 Mutations with Disease Phenotypes

Mittal, R., Patel, K., Mittal, J., Chan, B., Yan, D., Grati, MH. & Liu, X. Z., 2015, In : Disease Markers. 2015, 127013.

Research output: Contribution to journalArticle

Ligases
Phenotype
Mutation
Audition
S-Adenosylmethionine
43 Citations (Scopus)

Current concepts in the pathogenesis and treatment of chronic suppurative otitis media

Mittal, R., Lisi, C. V., Gerring, R., Mittal, J., Mathee, K., Narasimhan, G., Azad, R. K., Yao, Q., Grati, MH., Yan, D., Eshraghi, A., Angeli, S. I., Telischi, F. F. & Liu, X. Z., Oct 1 2015, In : Journal of Medical Microbiology. 64, 10, p. 1103-1116 14 p.

Research output: Contribution to journalArticle

Suppurative Otitis Media
Otitis Media
Inner Ear
Ear Oval Window
Ear
12 Citations (Scopus)

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family

Wang, H., Wang, X., He, C., Li, H., Qing, J., Grati, M., Hu, Z., Li, J., Hu, Y., Xia, K., Mei, L., Wang, X., Yu, J., Chen, H., Jiang, L., Liu, Y., Men, M., Zhang, H., Guan, L., Xiao, J. & 3 others, Zhang, J., Liu, X. Z. & Feng, Y., Mar 27 2015, In : Journal of Human Genetics. 60, 3, p. 119-126 8 p.

Research output: Contribution to journalArticle

Exome
Mutation
Genes
Carcinoembryonic Antigen
Cell Adhesion Molecules