المؤلفون: Hailong Tu, Aizhen Zhang, Xiaolong Fu, Shiqi Xu, Xiaohui Bai, Haibo Wang, Jiangang Gao

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: Smpx, hair cell, stereocilia degeneration, hearing loss, CRISPR-Cas9, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2021.750023/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/f5c46a7ed08b4fdf986505807c033ebb

المؤلفون: Yuan Lv, Jia Gu, Hao Qiu, Huan Li, Zhitao Zhang, Shaowei Yin, Yan Mao, Lingyin Kong, Bo Liang, Hongkun Jiang, Caixia Liu

المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)

مصطلحات موضوعية: DFNX4, novel variant, SMPX, splicing, whole‐exome sequencing, X‐linked hearing loss, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/acc3a81e433f4814be41f597e0ca126a

المؤلفون: Anna Ghilardi, Alberto Diana, Renato Bacchetta, Nadia Santo, Miriam Ascagni, Laura Prosperi, Luca Del Giacco

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 12, p 6497 (2021)

مصطلحات موضوعية: zebrafish, SMPX, hearing loss, myopathy, X-chromosome, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/12/6497; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/0507187e6ea84024b0f0d0709c9e28b4

المؤلفون: Nadia Santo, Miriam Ascagni, Anna Ghilardi, Laura Prosperi, Renato Bacchetta, Alberto Diana, Luca Del Giacco

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 6497, p 6497 (2021)
Volume 22
Issue 12

مصطلحات موضوعية: 0301 basic medicine, Stereocilia (inner ear), Organogenesis, Fluorescent Antibody Technique, Muscle Proteins, Muscle Development, Mechanotransduction, Cellular, 0302 clinical medicine, Mechanotransduction, Biology (General), Zebrafish, Spectroscopy, X-chromosome, biology, Muscles, Gene Expression Regulation, Developmental, General Medicine, Kinocilium, Computer Science Applications, Protein Transport, Chemistry, medicine.anatomical_structure, Phenotype, Gene Knockdown Techniques, medicine.symptom, myopathy, Hearing loss, QH301-705.5, Embryonic Development, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, SMPX, Hair Cells, Auditory, medicine, otorhinolaryngologic diseases, Animals, Inner ear, Physical and Theoretical Chemistry, Myopathy, Molecular Biology, QD1-999, Loss function, hearing loss, Organic Chemistry, biology.organism_classification, zebrafish, 030104 developmental biology, Ear, Inner, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d541946565a2c30efe958a2833b1b3b
http://europepmc.org/articles/PMC8235540

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المؤلفون: Hao Qiu, Lingyin Kong, Zhitao Zhang, Hong-Kun Jiang, Bo Liang, Yan Mao, Jia Gu, Caixia Liu, Huan Li, Shaowei Yin, Yuan Lv

المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, lcsh:QH426-470, Hearing loss, Hearing Loss, Sensorineural, RNA Splicing, Muscle Proteins, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, X‐linked hearing loss, Frameshift mutation, 03 medical and health sciences, symbols.namesake, splicing, SMPX, Genotype, Exome Sequencing, Genetics, medicine, Humans, splice, Child, Molecular Biology, Genetics (clinical), Exome sequencing, Sanger sequencing, Clinical Report, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, Prognosis, Introns, novel variant, lcsh:Genetics, 030104 developmental biology, DFNX4, Child, Preschool, symbols, Sensorineural hearing loss, Female, whole‐exome sequencing, RNA Splice Sites, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f000652bd4b2328fc7b150476face157
https://pubmed.ncbi.nlm.nih.gov/31478598

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