Results 11 to 20 of about 1,850 (127)

De Novo Gene Transcription of Connexin Mediates Cytoplasmic Fluid Exchange and Flocking Transitions in Physiological and Cancerous Epithelial Systems. [PDF]

Adv Sci (Weinh)
EGF‐induced de novo transcription of connexins Cx26 and Cx31 promotes flocking behavior that fluidizes epithelia and enables coordinated collective migration. Connexin‐driven cytoplasmic exchange mechanistically links growth‐factor signaling to invasive dynamics.
Abdo H, Barzaghi L, Shen Y, Bellini E, Martini E, Magni S, Barozzi S, Orsenigo F, Parazzoli D, Beznoussenko GV, Franco JD, Krautgasser F, Kaivola J, Cinquanta M, Lazzarin A, Sigismund S, Ivaska J, Cerbino R, Scita G.   +18 more
europepmc   +2 more sources

Evaluation of the GJB2 and GJB6 Polymorphisms with Autosomal Recessive Nonsyndromic Hearing Loss in Iranian Population [PDF]

Iranian Journal of Otorhinolaryngology, 2021
Introduction: Hearing loss (HL), with more than 100 gene loci, is the most common sensorineural defects in humans. The mutations in two GJB2 and GJB6 (Gap Junction Protein Beta 2, 6) genes are responsible for nearly 50% of autosomal recessive ...
Somayeh Ebrahimkhani, Golnaz Asaadi Tehrani   +1 more
doaj   +1 more source

Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854). [PDF]

PLoS ONE, 2011
Mutations in the GJB2 gene, which encodes connexin 26, are a frequent cause of congenital non-syndromic sensorineural hearing loss. Two large deletions, del(GJB6-D13S1830) and del(GJB6-D13S1854), which truncate GJB6 (connexin 30), cause hearing loss in ...
Juan Rodriguez-Paris, Marta L Tamayo, Nancy Gelvez, Iris Schrijver   +3 more
doaj   +1 more source

GJB2 and GJB6 gene transcripts in the human cochlea: A study using RNAscope, confocal, and super-resolution structured illumination microscopy

Frontiers in Molecular Neuroscience, 2022
BackgroundGap junction (GJ) proteins, connexin26 and 30, are highly prevalent in the human cochlea (HC), where they are involved in transcellular signaling, metabolic supply, and fluid homeostasis.
Wei Liu, Helge Rask-Andersen
doaj   +1 more source

Virally Mediated Connexin 26 Expression in Postnatal Scala Media Significantly and Transiently Preserves Hearing in Connexin 30 Null Mice

Frontiers in Cell and Developmental Biology, 2022
Non-sensory cells in the sensory epithelium of the cochlea are connected extensively by gap junctions. Functionally null mutations in GJB6 (encoding Cx30) cause hearing loss in humans. In this study, we injected AAV1-CB7-Gjb2 into the scala media between
Li Zhang, Li Zhang, Li Zhang, Wenwen Wang, Wenwen Wang, Wenwen Wang, Sun Myoung Kim, Sun Myoung Kim, Jianjun Wang, Jianjun Wang, Binfei Zhou, Binfei Zhou, Weijia Kong, James Zheng, James Zheng, Xi Lin, Xi Lin   +16 more
doaj   +1 more source

Causal Variants of the GJB6 Gene are Associated with Hearing Loss and Skin Manifestations: A Case Report from Turkey

International Journal of Dermatology and Venerology, 2022
Introduction:. The gap junction beta 6 (GJB6) gene encodes connexin 30. This protein plays critical role in tissues and is responsible for the formation of gap junctions, which have a wide variety of physiological functions.
Neslihan Duzkale, Gamze Tas Aygar, Kemal Keseroglu, Murad Mutlu, Mehmet Birol Ugur   +4 more
doaj   +1 more source

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia

Hereditas, 2020
Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 ...
Yi Zhan, Shuaihantian Luo, Zixin Pi, Guiying Zhang   +3 more
doaj   +1 more source

Investigation of the GJB6 Deletion Mutations Del (GJB6-D13s1830) and Del (GJB6-D13s1854) in Iranian Patients with Autosomal-Recessive Non-Syndromic Hearing Loss (ARNSHL)

Brazilian Archives of Biology and Technology, 2016
Hearing loss (HL) is the most common inherited sensory disorder affecting about 1 in 1000 births. The first locus for nonsyndromic autosomal recessive HL is on chromosome 13q11-22.
Habib Onsori
doaj   +1 more source

Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran

Iranian Journal of Public Health, 2020
Background: Hearing loss (HL) is one of the most common heterogeneous congenital disabilities worldwide. Gap junction protein β-3 (GJB3) gene encodes Connexin31 protein (Cx31).
Farnoush ALIAZAMI, Dariush D. FARHUD, Marjan ZARIF-YEGANEH, Siamak SALEHI, Azam HOSSEINIPOUR, Roxana SASANFAR, Maryam Eslami   +6 more
doaj   +1 more source

A novel missense mutation in the connexin30 causes nonsyndromic hearing loss. [PDF]

PLoS ONE, 2011
Dysfunctional gap junctions caused by GJB2 (CX26) and GJB6 (CX30) mutations are implicated in nearly half of nonsyndromic hearing loss cases. A recent study identified a heterozygous mutation, c.119C>T (p.A40V), in the GJB6 gene of patients with ...
Wen-Hung Wang, Yu-Fan Liu, Ching-Chyuan Su, Mao-Chang Su, Shuan-Yow Li, Jiann-Jou Yang   +5 more
doaj   +1 more source