Cargando…

Gene4HL: An Integrated Genetic Database for Hearing Loss

Hearing loss (HL) is one of the most common disabilities in the world. In industrialized countries, HL occurs in 1–2/1,000 newborns, and approximately 60% of HL is caused by genetic factors. Next generation sequencing (NGS) has been widely used to identify many candidate genes and variants in patien...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Shasha, Zhao, Guihu, Wu, Jie, Li, Kuokuo, Wang, Qiuquan, Fu, Ying, Zhang, Honglei, Bi, Qingling, Li, Xiaohong, Wang, Weiqian, Guo, Chang, Zhang, Dejun, Wu, Lihua, Li, Xiaoge, Xu, Huiyan, Han, Mingyu, Wang, Xin, Lei, Chen, Qiu, Xiaofang, Li, Yang, Li, Jinchen, Dai, Pu, Yuan, Yongyi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558372/ https://www.ncbi.nlm.nih.gov/pubmed/34733322 http://dx.doi.org/10.3389/fgene.2021.773009

Ejemplares similares

A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss
por: Zhang, Dejun, et al.
Publicado: (2022)

Two SOX11 variants cause Coffin–Siris syndrome with a new feature of sensorineural hearing loss
por: Wang, Qiuquan, et al.
Publicado: (2022)

Molecular diagnose of a large hearing loss population from China by targeted genome sequencing
por: Wu, Jie, et al.
Publicado: (2022)

Cross-Disorder Analysis of De Novo Variants Increases the Power of Prioritising Candidate Genes
por: Li, Kuokuo, et al.
Publicado: (2021)

Preimplantation genetic testing for hereditary hearing loss in Chinese population
por: Bi, Qingling, et al.
Publicado: (2023)

Correction to: Preimplantation genetic testing for hereditary hearing loss in Chinese population
por: Bi, Qingling, et al.
Publicado: (2023)

Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients
por: Fu, Ying, et al.
Publicado: (2022)

Characterizing the Expression Patterns of Parkinson’s Disease Associated Genes
por: Li, Bin, et al.
Publicado: (2021)

Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder
por: Wang, Lin, et al.
Publicado: (2020)

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals
por: Huang, Shasha, et al.
Publicado: (2015)

Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation
por: Zhu, Yuhua, et al.
Publicado: (2014)

Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans
por: Zhao, Guihu, et al.
Publicado: (2020)

Revealing a novel contributing landscape of ferroptosis-related genes in Parkinson’s disease
por: Jian, Xingxing, et al.
Publicado: (2022)

Common Molecular Etiologies Are Rare in Nonsyndromic Tibetan Chinese Patients with Hearing Impairment
por: Yuan, Yongyi, et al.
Publicado: (2012)

Cross-Disorder Analysis of De Novo Mutations in Neuropsychiatric Disorders
por: Li, Kuokuo, et al.
Publicado: (2021)

Performance evaluation of differential splicing analysis methods and splicing analytics platform construction
por: Li, Kuokuo, et al.
Publicado: (2022)

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
por: Yuan, Yongyi, et al.
Publicado: (2010)

Interactions of genetic risks for autism and the broad autism phenotypes
por: Dong, Lijie, et al.
Publicado: (2023)

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing
por: Jiang, Yi, et al.
Publicado: (2021)

Molecular Epidemiology and Functional Assessment of Novel Allelic Variants of SLC26A4 in Non-Syndromic Hearing Loss Patients with Enlarged Vestibular Aqueduct in China
por: Yuan, Yongyi, et al.
Publicado: (2012)

De novo mutations in folate-related genes associated with common developmental disorders
por: Luo, Tengfei, et al.
Publicado: (2021)

H and HL synergistically regulate jasmonate-triggered trichome formation in tomato
por: Hua, Bing, et al.
Publicado: (2022)

Editorial: Hearing Loss: Mechanisms and Prevention
por: Chai, Renjie, et al.
Publicado: (2022)

GPCards: An integrated database of genotype–phenotype correlations in human genetic diseases
por: Li, Bin, et al.
Publicado: (2021)

Step‐by‐Step Design and Synthesis of Au@SiO(2)@Phenyl‐azathiacrown for SERS‐Based Specific Quantification of Inorganic Mercury
por: Wu, Yuchao, et al.
Publicado: (2017)

Back Cover: Step‐by‐Step Design and Synthesis of Au@SiO(2)@Phenyl‐azathiacrown for SERS‐Based Specific Quantification of Inorganic Mercury (ChemistryOpen 2/2017)
por: Wu, Yuchao, et al.
Publicado: (2017)

Factors associated with the efficiency of hearing aids for patients with age-related hearing loss
por: Wu, Xu, et al.
Publicado: (2019)

Outcomes of cochlear implantation in 75 patients with auditory neuropathy
por: Wu, Jie, et al.
Publicado: (2023)

Rare Hepatic Cryptococcosis Mimicked Metastatic Liver Cancer and Confirmed by Metagenomic Next-Generation Sequencing in an Immunocompetent Patient: A Case Report
por: Zhu, Mingyu, et al.
Publicado: (2022)

A noninvasive and highly sensitive approach for the assessment of coronary collateral circulation by 192-slice third-generation dual-source computed tomography
por: Chen, Kebin, et al.
Publicado: (2019)

Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux
por: Qiu, Shiwei, et al.
Publicado: (2021)

Hyperferritinemia Correlates to Metabolic Dysregulation and Steatosis in Chinese Biopsy-Proven Nonalcoholic Fatty Liver Disease Patients
por: Wang, Qingling, et al.
Publicado: (2022)

Variant analysis of 92 Chinese Han families with hearing loss
por: Jin, Xiaohua, et al.
Publicado: (2022)

Costs of screening children for hearing disorders and delivery of hearing aids in China
por: Baltussen, Rob, et al.
Publicado: (2009)

Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family
por: Huang, Shasha, et al.
Publicado: (2020)

Identification and Validation of Immune-Related Biomarker Gene and Construction of ceRNA Networks in Septic Cardiomyopathy
por: Li, Jingru, et al.
Publicado: (2022)

Identification of a Novel Homozygous Mutation, TMPRSS3: c.535G>A, in a Tibetan Family with Autosomal Recessive Non-Syndromic Hearing Loss
por: Fan, Dongyan, et al.
Publicado: (2014)

RNA sequencing uncovers the key microRNAs potentially contributing to sudden sensorineural hearing loss
por: Li, Qi, et al.
Publicado: (2017)

Gossypol-Induced Differentiation in Human Leukemia HL-60 Cells
por: Wang, Wen-Qing, et al.
Publicado: (2006)

Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China
por: Yuan, Yongyi, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_2a95407a40ra4k2d1ddp7ga9nb