Results 91 to 100 of about 4,249 (178)

GDC: Integration of Multi‐Omic and Phenotypic Resources to Unravel the Genetic Pathogenesis of Hearing Loss

open access: yesAdvanced Science, Volume 12, Issue 29, August 7, 2025.
Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng   +11 more
wiley   +1 more source

Coordinated activation of future isofrequency lamina in prehearing Cx26 cKO mice.

open access: yes, 2023
(a) Representative spontaneous neural calcium transients (left) and corresponding normalized spatial fluorescence profile along future tonotopic axis (right, indicated by white rectangle) in IC from P7 control (Gjb2fl/fl;Snap25-T2A-GCaMP6s) mouse. Merged
Calvin J. Kersbergen (16455643)   +3 more
core   +1 more source

Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment

open access: yesNeurobiology of Disease, 2006
Mutations in GJB2, which encodes the gap junction protein connexin 26 (Cx26), are one of the major causes for inherited and sporadic nonsyndromic hearing impairment. This study aimed to functionally characterize more frequent GJB2 mutations identified in
M. Palmada   +6 more
doaj   +1 more source

No changes in electrophysiologic properties of immature inner hair cells with loss of Cx26.

open access: yes, 2023
(a) Schematic of whole cell patch clamp recording from IHCs. (b) Voltage protocol (left) and representative current responses (right) from P7 control (Gjb2fl/fl) and Cx26 cKO (Tecta-Cre;Gjb2fl/fl) IHCs.
Calvin J. Kersbergen (16455643)   +3 more
core   +1 more source

Expression of the gap junction connexins Cx43 ,Cx45 and Cx26 in human uterine leiomyomata

open access: yesGynecological Endocrinology, 2001
Uterine leiomyomata of 34 premenopausal women undergoing leiomyomectomy or hysterectomy, and in four cases the corresponding myometrium, were collected at laparotomy or laparoscopy to investigate the ability of these benign smooth muscle cell tumors to express different connexins.
P A, Regidor   +6 more
openaire   +2 more sources

Loss of outer hair cells in Cx26 cKO mice is restricted to basal cochlea at P21.

open access: yes, 2023
(a) Representative images of hair cells labeled by immunoreactivity to Myosin VIIa (magenta) in whole mounts from apex, middle, and basal cochlea in control (Gjb2fl/fl, left) and Cx26 cKO (Tecta-Cre;Gjb2fl/fl, right) mice at P21.
Calvin J. Kersbergen (16455643)   +3 more
core   +1 more source

A Novel Compound Heterozygous Mutation (35delg, 363delc) in the Connexin 26 Gene Causes Non-Syndromic Autosomal Recessive Hearing Loss

open access: yesActa Medica Iranica, 2014
Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation.
Habib Onsori   +2 more
doaj  

Timed conditional null of connexin26 in mice reveals temporary requirements of connexin26 in key cochlear developmental events before the onset of hearing

open access: yesNeurobiology of Disease, 2015
Mutations in the Gjb2 gene, which encodes a gap junction protein connexin26 (Cx26), are the most prevalent form of hereditary deafness in humans and represent about half of non-syndromic congenital deafness cases in many ethnic populations.
Qing Chang   +3 more
doaj   +1 more source

Targeted deletion of Cx26 from the sensory epithelium leads to auditory dysfunction.

open access: yes, 2023
(a) Immunostaining for Connexin 26 (green) in whole mount apical cochlea from P21 control (Gjb2fl/fl, left) and Cx26 cKO (Tecta-Cre;Gjb2fl/fl, right) mice. Hair cells (magenta) are labeled by immunoreactivity against MyoVIIA.
Calvin J. Kersbergen (16455643)   +3 more
core   +1 more source

Molecular composition and distribution of gap junctions in the sensory epithelium of the human cochlea—a super-resolution structured illumination microscopy (SR-SIM) study

open access: yesUpsala Journal of Medical Sciences, 2017
Background: Mutations in the GJB2 gene, which encodes the Connexin26 (Cx26) protein, are the most common cause of childhood hearing loss in American and European populations.
Wei Liu   +9 more
doaj   +1 more source

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