The cochlear morphology alteration and hearing loss in Cep250 knockout mice DOI Creative Commons
Benyu Nan, Xi Gu, Xinlei Wu

et al.

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: June 19, 2024

Abstract Background: Usher syndrome is a genetic disorder characterized by sensorineural hearing loss, progressive vision and in some cases, vestibular dysfunction. It the most common cause of combined deafness blindness. Cep250 candidate gene for atypical syndrome. This study explores inner ear morphological auditory functional changes using Cep250−/− mouse model. Methods: We constructed Cep250−/− mice CRISPR/Cas9 technology, analyzed scRNA-seq data derived from studying Cep250 expression cochlea normal at different stages. Auditory brainstem responses (ABRs) were applied to wild-type, heterozygous homozygous about P30 P60 assess general function ear. The swimming test was used examine Immunofluorescent staining observe hair cell morphology count numbers. Results: demonstrate that exhibit impaired function, particularly high-frequency ranges, whereas their remains unaffected. Immunofluorescence reveals significant reduction number cochlear cells mice, confirming association between mutation loss. Heterozygous show no hearing, indicating single allele insufficient affect levels. Conclusion: Our findings contribute deeper understanding may guide future research therapeutic strategies this condition.

Language: Английский

A Review for Artificial-Intelligence-Based Protein Subcellular Localization DOI Creative Commons

Hanyu Xiao,

Yijin Zou,

Jieqiong Wang

et al.

Biomolecules, Journal Year: 2024, Volume and Issue: 14(4), P. 409 - 409

Published: March 27, 2024

Proteins need to be located in appropriate spatiotemporal contexts carry out their diverse biological functions. Mislocalized proteins may lead a broad range of diseases, such as cancer and Alzheimer’s disease. Knowing where target protein resides within cell will give insights into tailored drug design for As the gold validation standard, conventional wet lab uses fluorescent microscopy imaging, immunoelectron microscopy, biomarker tags subcellular location identification. However, booming era proteomics high-throughput sequencing generates tons newly discovered proteins, making localization by wet-lab experiments mission impossible. To tackle this concern, past decades, artificial intelligence (AI) machine learning (ML), especially deep methods, have made significant progress research area. In article, we review latest advances AI-based method development three typical types approaches, including sequence-based, knowledge-based, image-based methods. We also elaborately discuss existing challenges future directions field.

Language: Английский

Citations

3
A Review for Artificial Intelligence Based Protein Subcellular Localization DOI Open Access

Hanyu Xiao,

Yijin Zou,

Jieqiong Wang

et al.

Published: March 4, 2024

Proteins need to be located in appropriate spatiotemporal contexts carry out their diverse biological functions. Mislocalized proteins may lead a broad range of diseases, such as cancer and Alzheimer’s disease. Knowing where target protein resides within cell will give insights into tailored drug design for As the gold validation standard, conventional wet lab uses fluorescent microscopy imaging, immunoelectron microscopy, biomarker tags subcellular location identification. However, booming era proteomics high-throughput sequencing generates tons newly discovered proteins, making subcel-lular localization by wet-lab experiments mission impossible. To tackle this concern, past decades, artificial intelligence (AI) machine learning (ML), especially deep methods, have made significant progress research area. In article, we review latest advances AI-based method development three typical types approaches, including sequence-based, knowledge-based, image-based methods. We also elaborately discuss existing challenges future directions field.

Language: Английский

Citations

2
Hyperhomocysteine promotes cataract development through mTOR-mediated inhibition of autophagy and connexins expression DOI

Wen-Na Liu,

Honglang Huang, Yu Lan

et al.

International Immunopharmacology, Journal Year: 2024, Volume and Issue: 140, P. 112827 - 112827

Published: Aug. 8, 2024

Language: Английский

Citations

1
The phenotypic spectrum of CEP250 gene variants DOI

Cécile Courdier,

Claire‐Marie Dhaenens, Olivier Grunewald

et al.

Ophthalmic Genetics, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 8

Published: Nov. 28, 2024

Introduction Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in CEP250 cause atypical autosomal recessive syndrome, which associated with SNHL photoreceptors 20 dysfunction without signs. To date, only 19 scattered descriptions have been reported. In this study, we present detailed clinical genetic description 7 unrelated individuals related disease, along a literature review to provide new insight on severity course disease.

Language: Английский

Citations

1
AURKB and circAURKB_288aa enhance Esophageal cancer drug resistance through inducing abnormal centrosome separation DOI

Hongzhen Lv,

Jing Zhou,

Limin Qiu

et al.

Biochemical Pharmacology, Journal Year: 2024, Volume and Issue: 232, P. 116691 - 116691

Published: Dec. 3, 2024

Language: Английский

Citations

1
The cochlear morphology alteration and hearing loss in Cep250 knockout mice DOI Creative Commons
Benyu Nan, Xi Gu, Xinlei Wu

et al.

Research Square (Research Square), Journal Year: 2024, Volume and Issue: unknown

Published: June 19, 2024

Abstract Background: Usher syndrome is a genetic disorder characterized by sensorineural hearing loss, progressive vision and in some cases, vestibular dysfunction. It the most common cause of combined deafness blindness. Cep250 candidate gene for atypical syndrome. This study explores inner ear morphological auditory functional changes using Cep250−/− mouse model. Methods: We constructed Cep250−/− mice CRISPR/Cas9 technology, analyzed scRNA-seq data derived from studying Cep250 expression cochlea normal at different stages. Auditory brainstem responses (ABRs) were applied to wild-type, heterozygous homozygous about P30 P60 assess general function ear. The swimming test was used examine Immunofluorescent staining observe hair cell morphology count numbers. Results: demonstrate that exhibit impaired function, particularly high-frequency ranges, whereas their remains unaffected. Immunofluorescence reveals significant reduction number cochlear cells mice, confirming association between mutation loss. Heterozygous show no hearing, indicating single allele insufficient affect levels. Conclusion: Our findings contribute deeper understanding may guide future research therapeutic strategies this condition.

Language: Английский

Citations

0