Results 201 to 210 of about 2,702,233 (230)

Connexin 26: required for normal auditory function

Brain Research Reviews, 2000
A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis.
P M, Kelley, E, Cohn, W J, Kimberling
openaire   +2 more sources

Immunolocalization of GLUT1 and connexin 26 in the rat placenta

Cell and Tissue Research, 1996
Interhemal membrane in the rat placenta is composed of three trophoblastic layers and endothelial cells. GLUT1, an isoform of the facilitated-diffusion glucose transporter, is abundant in the cells of the placental barrier, i.e., syncytiotrophoblastic layers I and II.
B C, Shin, T, Suzuki, T, Matsuzaki, S, Tanaka, A, Kuraoka, Y, Shibata, K, Takata   +6 more
openaire   +2 more sources

Connexin 26 as a Cause of Hereditary Hearing Loss

American Journal of Audiology, 1999
Connexin 26 (Cx26) is an inner ear protein that forms part of the potassium recycling pathway used to maintain the osmotic balance essential for normal auditory function. Mutations in the GJB2 gene, which encodes for the Cx26 protein, recently have been implicated as the cause of up to 50% of hereditary prelingual ...
W T, McGuirt, R J, Smith
openaire   +2 more sources

Analysis of and Expression of Connexin 26 Mutations

Otolaryngology–Head and Neck Surgery, 2004
Problem: Mutations in the gap junction beta-2 (GJB2) gene, which encodes the connexin 26 protein, account for 50% of all the patients with autosomal recessive nonsyndromic hearing loss. Connexins are proteins that oligomerize to form a gap junction channel.
Jason G Cundiff, Hamid R Djalilian, Nalin Kumar, Venessa Rothholtz, R Antonio Herrera   +4 more
openaire   +1 more source

Connexin 26 expression in mammalian cardiomyocytes

Italian Journal of Anatomy and Embryology, 2017
Connexins (Cxs) are a family of membrane-spanning proteins named according to their molecular weight. They have been known to form membrane channels mediating cell-cell communication, which play an essential role in the propagation of electrical activity throughout the heart.
BIANCHI, FRANCESCO, Enza, Polizzi, SABBATINI, ANTONIETTA RAFFAELLA MARIA, Silvia, Del Ry, Manuela, Ciabati, MOSCATO, STEFANIA, MATTII, LETIZIA   +6 more
openaire   +2 more sources

Expression of connexin-26 in mammalian cardiomyocytes

2016
Background. Connexins (Cxs) form membrane channels which play essential role in the propagation of electrical activity throughout the heart. Their dysfunction has been linked to congenital malformation of the heart and to a wide variety of cardiac pathologies.
Silvia, Del Ry, Manuela, Cabiati, MOSCATO, STEFANIA, Silvia, Burchielli, Lucia, Botta, Marco, Matteucci, VAGLINI, FRANCESCA, BIANCHI, FRANCESCO, MATTII, LETIZIA   +8 more
openaire   +1 more source

Function of Connexin-43 in Macrophages

International Journal of Molecular Sciences, 2021
Lilian Salm, Guido Beldi
exaly  

Auditory Function and the M34T Allele of Connexin 26

Archives of Otolaryngology–Head & Neck Surgery, 2002
Andrew J, Griffith, Thomas B, Friedman
openaire   +2 more sources

The Expression of Connexin 37, 40, 43, 45 and Pannexin 1 in the Early Human Retina and Choroid Development and Tumorigenesis

International Journal of Molecular Sciences, 2022
Mirela Lozić, Natalija Filipovic, Mirna Saraga-Babić   +2 more
exaly  

Genetics: Connexin 26 and Connexin 30

2016
openaire   +1 more source