Zobrazeno 1 - 10
of 481
pro vyhledávání: '"CDH23"'
Autor:
Aliasgar Mohammadi, Marziyeh Hoseinzadeh, Sina Narrei, Mohammad Reza Pourreza, Yousof Mohammadi, Mahnaz Norouzi, Ladan Sadeghian, Mohammad Amin Tabatabaiefar
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-8 (2024)
Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system. SNHL can occur as a symptom in more than 400 syndromes, and mutations in more than 150 genes can lead to SN
Externí odkaz:
https://doaj.org/article/b98c4e75825f442c92fc2d8bd2454865
Autor:
Paola Tesolin, Aurora Santin, Anna Morgan, Stefania Lenarduzzi, Elisa Rubinato, Giorgia Girotto, Beatrice Spedicati
Publikováno v:
Audiology Research, Vol 13, Iss 6, Pp 989-995 (2023)
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss (HL), retinopathy, and vestibular areflexia, with variable severity. Although a high prevalence of behavioural and mental disorders in USH patients ha
Externí odkaz:
https://doaj.org/article/893f3b8dfeb74e40bc4043078ccd565d
Akademický článek
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Autor:
Amanat Ali, Mohammed Tabouni, Praseetha Kizhakkedath, Ibrahim Baydoun, Mushal Allam, Anne John, Faiza Busafared, Ayesha Alnuaimi, Fatma Al-Jasmi, Hiba Alblooshi
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified
Externí odkaz:
https://doaj.org/article/7e63ed68d0604a8eb3fd8833945c8d3f
Autor:
Shu Yang, Bing-Lin Xie, Xiao-ping Dong, Ling-xiang Wang, Gang-hua Zhu, Tian Wang, Wei-jing Wu, Ruo-sha Lai, Rong Tao, Min-xin Guan, Fang-yi Chen, Dong-hui Tan, Zhong Deng, Hua-ping Xie, Yong Zeng, Zi-an Xiao, Ding-hua Xie
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 16 (2023)
IntroductionThe pathogenic gene CDH23 plays a pivotal role in tip links, which is indispensable for mechanoelectrical transduction in the hair cells. However, the underlying molecular mechanism and signal regulatory networks that influence deafness i
Externí odkaz:
https://doaj.org/article/18ffc48731fe4a23ace54779a32202a2
Akademický článek
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Autor:
Jiao Yang, Fei Lu, Guangxin Ma, Yihua Pang, Yanan Zhao, Tao Sun, Daoxin Ma, Jingjing Ye, Chunyan Ji
Publikováno v:
BMC Cancer, Vol 22, Iss 1, Pp 1-12 (2022)
Abstract Background Cadherin-23 (CDH23) plays an important role in intercellular adhesion and is involved in the progression of several types of cancer. However, the biological functions and effect of CDH23 expression on the prognosis of patients wit
Externí odkaz:
https://doaj.org/article/90ea469c4049497ab864519fd7f87cdc
Publikováno v:
Annals of Human Biology, Vol 49, Iss 1, Pp 41-53 (2022)
Background NIHL is one of the most common occupational diseases induced by gene-environment interaction. The CDH23 gene is a candidate gene related to NIHL susceptibility. However, the relationship between CDH23 gene and NIHL is still inconclusive. A
Externí odkaz:
https://doaj.org/article/1c2c14da55ea4e9388eaf2aebf9cde1e
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families.Methods: To identify potential genetic causes, we perfo
Externí odkaz:
https://doaj.org/article/9c40a5cdb3204bc5a89446a5b44cb822
Akademický článek
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