Results 121 to 130 of about 7,226 (202)

Gene expression profiling of airway epithelium in Mycobacterium avium complex lung disease

ERJ Open Research
Background Impaired mucociliary clearance is associated with nontuberculous mycobacterial lung disease (NTM-LD). While airway epithelial cells (AECs), which are essential for maintaining this defence mechanism, play a central role in NTM-LD pathogenesis,
Koji Furuuchi, Minako Hijikata, Shintaro Seto, Akiko Miyabayashi, Keiko Wakabayashi, Takayuki Nakagawa, Tsutomu Yoshida, Kiyomi Shimoda, Miyako Hiramatsu, Yuji Shiraishi, Kozo Morimoto, Naoto Keicho   +11 more
doaj   +1 more source

Mutation analysis of GJB2 and GJB6 genes and the genetic linkage analysis of five common DFNB loci in the Iranian families with autosomal recessive non-syndrom [PDF]

, 2010
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
Ashrafi, Koorosh., Farokhi, Effat., Gholami, A., Hashemzadeh-Chaleshtori, Morteza., Montazer Zohouri, Mostafa., Noori-Daloii, Mohammad Reza., Safari Chaleshtori, Javad., Shariati, Laleh., Tabatabaiefar, Mohammad Amin.   +8 more
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[Analysis of 59 cases of large vestibular aqueduct syndrome SLC26A4gene mutation frequency and new mutation sites]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2023
Su D, Lou F, Huang R, Li X, Lin K, Li G, Ma J.   +6 more
europepmc   +1 more source

Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia). [PDF]

Genes (Basel), 2023
Danilchenko VY, Zytsar MV, Maslova EA, Orishchenko KE, Posukh OL.   +4 more
europepmc   +1 more source

Characterization of four common deafness gene mutations among 12 221 newborns delivered at four hospitals in a district of Suzhou city, 2018 – 2022

Zhongguo gonggong weisheng
ObjectiveTo investigate the characteristics of common deafness gene mutations in newborns in a district of Suzhou municipality, Jiangsu province for the prevention and treatment of hereditary hearing loss.MethodsMicro blood samples were collected from 12
Yuxing FAN, Hongqin GAO, Hong PAN, Yong XU, Hong ZHU   +4 more
doaj   +1 more source

Measurements of endolymphatic K⁺ concentrations in the utricle of pre- and postnatal Slc26a4 Δ/+ and Slc26a4 Δ/Δ mice [PDF]

Master of ScienceDepartment of Anatomy and PhysiologyA. Philine WangemannSLC26A4 and its murine ortholog Slc26a4 code for pendrin, an anion-exchanger that is expressed in the inner ear.
Zhou, Fei
core  

[Correlation of temporal bone HRCT, SLC26A4 gene and hearing loss in enlarged vestibular aqueduct]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2022
Zhao Z, Zhu Y, Fu Y, Jiang H.
europepmc   +1 more source

Enlarged vestibular aqueduct in cochlear implant patients [PDF]

, 2009
Vidgad vestibularakvedukt (EVA) är en inneröremissbildning och en vanlig orsak till ärftlig hörselnedsättning. Hörselnedsättningen är ofta av kombinerad typ och orsaken till den konduktiva komponenten antas ligga i innerörat. EVA diagnostiseras med hjälp
Hatt, Sanne, Öinert, Adam
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A single-nucleus RNA-sequencing pipeline to decipher the molecular anatomy and pathophysiology of human kidneys [PDF]

, 2019
Defining cellular and molecular identities within the kidney is necessary to understand its organization and function in health and disease. Here we demonstrate a reproducible method with minimal artifacts for single-nucleus Droplet-based RNA sequencing (
Chen, Song, Gao, Derek, Gaut, Joseph, Hoshi, Masato, Jain, Sanjay, Kim, Eric H., Knoten, Amanda, Lake, Blue B., Plongthongkum, Nongluk, Salamon, Diane, Venkatesh, Ramakrishna, Vijayan, Anitha, Zhang, Kun   +12 more
core   +2 more sources

Mutation screening of GJB2 and GJB6 and genetic linkage study of three prevalent DFNB loci in Iranian families with autosomal recessive non-syndromic hearing loss [PDF]

, 2010
Background and aim: The incidence of prelingual hearing loss (HL) is about 1 in 1000 neonates of which, more than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 100 loci have been identified.
Ashrafi, Koorosh., Farrokhi, Effat., Ghasemikhah, Reza., Hashemzadeh-Chaleshtori, Morteza., Montazer Zohouri, Mostafa., Noori-Daloii, Mohammad Reza., Saffari-Chaleshtori, Javad., Shariati, Laleh., Tabatabaiefar, Mohammad Amin.   +8 more
core