Resource Type

Journal Article 7

Year

2022 1

2019 1

2016 3

Keywords

hearing 2

hearing loss 2

TMEM141 1

CRISPR/Cas9 1

Hearing loss 1

LKB1 1

Label-free detection 1

Microfluidics Ionic imprinting 1

Structural color 1

TPRN 1

actin filament 1

alternative splicing 1

autosomal recessive intellectual disability 1

consanguinity 1

deafness genes 1

hair cells 1

hereditary non-syndromic hearing loss 1

inner ear 1

kinocilium 1

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Ionically Imprinting-Based Copper (Ⅱ) Label-Free Detection for Preventing Hearing Loss Article

Huan Wang, Hui Zhang, Xiaoli Zhang, Hong Chen, Ling Lu, Renjie Chai

Engineering doi: 10.1016/j.eng.2023.09.001

Abstract: ion (Cu2+) may cause severe health problems, such as hair cell apoptosis and the resultant hearingIIHBs are promising candidates for Cu2+ detection, particularly for the prevention of hearing

Keywords： Structural color     Microfluidics Ionic imprinting     Label-free detection     Hearing loss    

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Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness

Wenjun Xia,Fei Liu,Duan Ma

Frontiers of Medicine 2016, Volume 10, Issue 2,   Pages 137-142 doi: 10.1007/s11684-016-0449-8

Abstract:

Hearing impairment is considered as the most prevalent impairment worldwide.Hereditary hearing loss is divided into syndromic hearing loss (associated with other anomalies) andnon-syndromic hearing loss (not associated with other anomalies).On the basis of the frequency of hearing loss, hereditary non-syndromic hearing loss can be divided intohigh-, mid-, low-, and total-frequency hearing loss.

Keywords： hereditary non-syndromic hearing loss     mid-frequency hearing loss     deafness genes    

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New US Rules Promise to Unlock Hearing Aid Availability

Mitch Leslie

Engineering 2022, Volume 14, Issue 7,   Pages 7-9 doi: 10.1016/j.eng.2022.05.008

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Alternative splicing of inner-ear-expressed genes

Yanfei Wang,Yueyue Liu,Hongyun Nie,Xin Ma,Zhigang Xu

Frontiers of Medicine 2016, Volume 10, Issue 3,   Pages 250-257 doi: 10.1007/s11684-016-0454-y

Abstract: Consequently, deficits in alternative splicing have been shown to cause hearing loss, as we can observeFurther investigation is also needed to clarify the mechanism of hearing loss caused by alternative splicing

Keywords： alternative splicing     inner ear     hearing loss     hair cells    

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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and

Frontiers of Medicine doi: 10.1007/s11684-023-1006-x

Abstract: Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine. Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation. Here, a Pakistani family with parental consanguinity was presented, characterized with severe intellectual disability (ID), spastic paraplegia, and deafness. Homozygosity mapping, integrated single nucleotide polymorphism (SNP) array, whole-exome sequencing, and whole-genome sequencing were performed, and homozygous variants in TMEM141 (c.270G>A, p.Trp90*), DDHD2 (c.411+767_c.1249-327del), and LHFPL5 (c.250delC, p.Leu84*) were identified. A Tmem141p.Trp90*/p.Trp90* mouse model was generated. Behavioral studies showed impairments in learning ability and motor coordination. Brain slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje cells. Transmission electron microscopy showed abnormal mitochondrial morphology. Furthermore, studies on a human in vitro neuronal model (SH-SY5Y cells) with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function, possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse model. Conclusively, panoramic variation analysis revealed that multilocus genomic variations of TMEM141, DDHD2, and LHFPL5 together caused variable phenotypes in patient. Notably, the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

Keywords： neurodevelopmental disorder     autosomal recessive intellectual disability     consanguinity     spastic paraplegia     hearing    

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Loss of liver kinase B1 causes planar polarity defects in cochlear hair cells in mice

Yuqin Men,Aizhen Zhang,Liwen Zhang,Yecheng Jin,Zhishuo Wang,Jing Zhao,Xiaolin Yu,Jian Zhang,Jiangang Gao

Frontiers of Medicine 2016, Volume 10, Issue 4,   Pages 481-489 doi: 10.1007/s11684-016-0494-3

Abstract:

The tumor suppressor gene liver kinase B1 (LKB1), also called STK11, encodes a serine/threonine kinase. LKB1 plays crucial roles in cell differentiation, proliferation, and polarity. In this study, LKB1 conditional knockout mice (LKB1Pax2 CKO mice) were generated using Pax2-Cre mice to investigate the function of LKB1 in inner ear hair cells during early embryonic period. LKB1Pax2 CKO mice died perinatally. Immunofluorescence and scanning electron microscopy revealed that stereociliary bundles in LKB1Pax2 CKO mice were clustered and misoriented, respectively. Moreover, ectopic distribution of kinocilium bundles resulting from abnormal migration of kinocilium was observed in the mutant mice. The orientation of stereociliary bundles and the migration of kinocilia are critical indicators of planar cell polarity (PCP) of hair cells. LKB1 deficiency in LKB1Pax2 CKO mice thus disrupted hair cell planar polarity during embryonic development. Our results suggest that LKB1 is required in PCP formation in cochlear hair cells in mice.

Keywords： LKB1     stereociliary bundles     kinocilium     planar cell polarity     hearing     mice    

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is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice

Yuqin Men, Xiujuan Li, Hailong Tu, Aizhen Zhang, Xiaolong Fu, Zhishuo Wang, Yecheng Jin, Congzhe Hou, Tingting Zhang, Sen Zhang, Yichen Zhou, Boqin Li, Jianfeng Li, Xiaoyang Sun, Haibo Wang, Jiangang Gao

Frontiers of Medicine 2019, Volume 13, Issue 6,   Pages 690-704 doi: 10.1007/s11684-018-0638-8

Abstract: To determine the role of in hearing, we generated -null mice by clustered regularly interspaced shortWe observed significant hearing loss and progressive degeneration of stereocilia in the outer hair cellsthe disruption of the stereociliary rootlet, which resulted in damage to stereociliary bundles and hearing

Keywords： TPRN     stereocilia     stereociliary rootlet     actin filament     CRISPR/Cas9     hearing    

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Title Author Date Type Operation

Ionically Imprinting-Based Copper (Ⅱ) Label-Free Detection for Preventing Hearing Loss

Huan Wang, Hui Zhang, Xiaoli Zhang, Hong Chen, Ling Lu, Renjie Chai

Journal Article

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness

Wenjun Xia,Fei Liu,Duan Ma

Journal Article

New US Rules Promise to Unlock Hearing Aid Availability

Mitch Leslie

Journal Article

Alternative splicing of inner-ear-expressed genes

Yanfei Wang,Yueyue Liu,Hongyun Nie,Xin Ma,Zhigang Xu

Journal Article

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in , , and

Journal Article

Loss of liver kinase B1 causes planar polarity defects in cochlear hair cells in mice

Yuqin Men,Aizhen Zhang,Liwen Zhang,Yecheng Jin,Zhishuo Wang,Jing Zhao,Xiaolin Yu,Jian Zhang,Jiangang Gao

Journal Article

is essential for the integrity of stereociliary rootlet in cochlear hair cells in mice

Yuqin Men, Xiujuan Li, Hailong Tu, Aizhen Zhang, Xiaolong Fu, Zhishuo Wang, Yecheng Jin, Congzhe Hou, Tingting Zhang, Sen Zhang, Yichen Zhou, Boqin Li, Jianfeng Li, Xiaoyang Sun, Haibo Wang, Jiangang Gao

Journal Article