Keywords: کانکسین 26; Connexin 26; Dynamin 2; Turnover; Gap junction;
مقالات ISI کانکسین 26 (ترجمه نشده)
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Keywords: کانکسین 26; Connexin 26; Connexin 30; Deafness; Skin disease; K+ recycling; Hemichannel;
Cochlear connexin 30 homomeric and heteromeric channels exhibit distinct assembly mechanisms
Keywords: کانکسین 26; Hearing loss; Cochlea; Connexin 26; Connexin 30; Gap junctions; Actin;
Molecular dynamics simulation of the thermosensitivity of the human connexin 26 hemichannel
Keywords: کانکسین 26; Connexin 26; Molecular dynamics simulation; Thermosensitivity;
Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway
Keywords: کانکسین 26; Age-related hearing loss; Connexin 26; Mouse models; Genome-wide association study; Hair cells; Spiral ganglion neurons;
Deconstruction of the human connexin 26 hemichannel due to an applied electric field; A molecular dynamics simulation study
Keywords: کانکسین 26; Connexin 26; Electric fields effects; Molecular dynamics simulation; Protein deconstruction;
Study of Met34Thr variant in nonsyndromic hearing loss in four Portuguese families
Keywords: کانکسین 26; Hearing loss; Autosomal dominant inheritance; GJB2; Connexin 26; Met34Thr variant
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients
Keywords: کانکسین 26; GJB2; Connexin 26; Genetics; Non-syndromic; Gap junctions; Hearing loss; ABI; auditory brainstem implant; CI; cochlear implant; Click-ABR; click auditory brainstem response; ECochG; electrocochleography; IHC; inner hair cells; IP3; inositol triphosphate;
A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family
Keywords: کانکسین 26; Connexin 26; GJB2 gene; Non-syndromic hearing loss; Compound heterozygous mutation
Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F
Keywords: کانکسین 26; Keratitis-ichthyosis-deafness syndrome; Connexin 26; Transgenic mouse mutant; Epidermal water barrier defect; Epidermal calcium gradient; Epidermal ceramides;
Research paperMice with conditional deletion of Cx26 exhibit no vestibular phenotype despite secondary loss of Cx30 in the vestibular end organs
Keywords: کانکسین 26; Vestibular end organ; Connexin 26; Connexin 30; Balance; GJB2; Mouse;
Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss
Keywords: کانکسین 26; ARNSHL; Autosomal recessive non syndromic hearing loss; Cx26; Connexin 26; HL; Hearing loss; PCR; Polymerase chain reaction; VUS; variants of unknown significance; Deafness; Connexin 26; Tunisia;
GJB2-associated hearing loss undetected by hearing screening of newborns
Keywords: کانکسین 26; AABR; automated auditory brainstem response; ABR; auditory brainstem-evoked response; AOAE; automated otoacoustic emissions; Cx26; connexin 26; HI; hearing impairment; I/I; biallelic inactivating; I/NI; compound heterozygous inactivating/non-inactivating;
Conserved glycine at position 45 of major cochlear connexins constitutes a vital component of the Ca2+ sensor for gating of gap junction hemichannels
Keywords: کانکسین 26; Gap junctions; Connexin 26; GJB6 protein human; Calcium; Ion channel gating;
Long-lasting changes in the cochlear K+ recycling structures after acute energy failure
Keywords: کانکسین 26; SSNHL; sudden sensorineural hearing loss; 3NP; 3-nitropropionic acid; NKCC1; Na-K-Cl cotransporter isoform 1; Cx26; connexin 26; Kir4.1; an inwardly rectifying K+ channel; L-PGDS; lipocalin-type prostaglandin D synthase; ABR; auditory brainstem response;
Hair phenotype in non-syndromic deafness
Keywords: کانکسین 26; Non-syndromic hearing loss; Congenital hearing loss; GJB2 gene; Gap junction; Connexin 26; Hair phenotype
Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children
Keywords: کانکسین 26; Congenital deafness; Cochlear implantation; Japanese children; p.P225L; Connexin 26; GJB2
Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)
Keywords: کانکسین 26; ARNSHL; Connexin 26; IVS1+1G>A; Iranian Azeri Turkish; GJB2; Deafness
Viral vector tropism for supporting cells in the developing murine cochlea
Keywords: کانکسین 26; AAV; adeno-associated virus; ABR; auditory brainstem response; ADNSHL; autosomal dominant nonsyndromic hearing loss; ARNSHL; autosomal recessive nonsyndromic hearing loss; AV; adenovirus; BAAV; bovine adeno-associated virus; CMV; cytomegalovirus; CX26; co
Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously
Keywords: کانکسین 26; Deafness/hearing loss; Congenital/child; Auditory cortex/brain; Electrophysiology/evoked potentials; GJB-2 mutation; Connexin 26; Simultaneous bilateral cochlear implants; Electrical stimulation;
High homogeneity in auditory outcome of pediatric CI-patients with mutations in Gap-Junction-Protein Beta2
Keywords: کانکسین 26; Cochlear implantation; GJB2; Deafness; Connexin 26; Auditory outcome performance;
Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania
Keywords: کانکسین 26; Connexin 26; c.35delG mutation; p.W24X mutation; Sensorineural hearing loss; Hereditary deafness
Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2
Keywords: کانکسین 26; Deafness; GJB2; GJB6; Argentina; del(GJB6-D13S1830); del(GJB6-D13S1854); Connexin 26; Connexin 30; IVS1 + 1G → A
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia
Keywords: کانکسین 26; GJB2 gene; Hereditary hearing loss; c.35delG mutation; p.M34T mutation; Connexin 26
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent
Keywords: کانکسین 26; Deafness; Mutations; GJB2; Connexin 26; Admixture
Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program
Keywords: کانکسین 26; Congenital hearing loss; Non-syndromic deafness; Connexin 26; GJB2 gene; 35delG mutation; S199F mutation; 167delT mutation; M34T variant
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family
Keywords: کانکسین 26; Autosomal recessive hearing loss; Novel mutation; Connexin 26; GJB2; Consanguinity
Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F
Keywords: کانکسین 26; GJB2; GJB6; Connexin 26; Connexin 30; del(GJB6-D13S1830); DFNB1 locus; USH1 genes; Deafness
A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss
Keywords: کانکسین 26; Deafness; GJB2; Connexin 26; Hearing impairment; DFNB1; V84M; GJB6; Deletion
Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation
Keywords: کانکسین 26; Cochlear implant; KID Syndrome; Pediatrics; Sensorineural hearing loss; Connexin 26; Genetics; GJB2; Dandy-Walker malformation; Cerebellum
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E
Keywords: کانکسین 26; Keratitis-Ichthyosis-Deafness syndrome; KID syndrome; Connexin 26; GJB2; G45E; Mosaicism
High carrier frequency of the GJB2 mutation (35delG) in the north of Iran
Keywords: کانکسین 26; Deafness; Connexin 26; GJB2; Carrier frequency; 35delG; Iran
High prevalences of carriers of the 35delG mutation of connexin 26 in the Mediterranean area
Keywords: کانکسین 26; Recessive deafness; Connexin 26; 35delG mutation; Prevalence of carriers; Mediterranean area; “Magna Grecia”; Historico-geographical interpretation
Molecular investigation in children candidates and submitted to cochlear implantation
Keywords: کانکسین 26; connexin 26; cochlear implants; sensorineural hearing loss;
Late postnatal onset of hearing loss due to GJB2 mutations
Keywords: کانکسین 26; Connexin 26; GJB2 protein; Human; Sensorineural hearing loss; Neonatal screening; Genetic testing
GJB2 mutations and additional disabilities in a pediatric cochlear implant population
Keywords: کانکسین 26; GJB2; Connexin 26; Sensorineural hearing loss; Pediatric cochlear implantation; Multi-handicap
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive sensorineural deafness
Keywords: کانکسین 26; NSHL; nonsyndromic hearing loss; HL; hearing loss; L205P; leucine 205 proline; 35delG; 35 deletion G; 167delT; 167 deletion T; RFLP; restriction fragment length polymorphism; TM4; transmembrane 4; Connexin 26; Sensorineural deafness; Mutation;
Connexin 26 mutation 35delG: Prevalence of carriers in various regions in France
Keywords: کانکسین 26; Hereditary hearing loss; Recessive deafness; Connexin 26; 35delG mutation; Prevalence of carriers; France;
GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations
Keywords: کانکسین 26; ARNSHL; autosomal recessive non-syndromic hearing loss; C-ARMS; competitive amplification refractory mutation system; PCR; polymerase chain reaction; SSCP; single strand conformation polymorphism; ACPTA; air conduction pure-tone average; Hearing loss; Con
Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients
Keywords: کانکسین 26; AS-PCR; allele-specific PCR; bp; base pair; Cx26; connexin 26; Cx30; connexin 30; DNA; deoxy nucleic acid; dNTP; deoxynucleotide phosphate; kb; kilo base; NCBI; National Center for Biotechnology Information; PCR; polymerase chain reaction; U; unit; V/cm;
Etiological diagnosis of bilateral, sensorineural hearing impairment in a pediatric Greek population
Keywords: کانکسین 26; Sensorineural; Hearing loss; Etiology; Connexin 26; Children;