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anti-Human TMC1 Antikörper:
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Three types of TMC1 polymorphisms (c.45C>T, c.1713C>T, c.2208+49C>T) and two heterozygotes of novel variants (c.1764-4C>A, c.2073G>A[p.K691K]) were found. Four novel variants were detected in this study; compound heterozygotes of TMC1 c.2050G>C, which were compound heterozygotes of c.804G>A, c.1127T>C, c.1165C>T, and c.1396_1398delAAC, respectively.
Novel TMC1 mutation 773G>A was identified in a family with nonsyndromic hearing loss.
the whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene.
Pathogenic variations in the TMC1 gene (encoding the transmembrane channel-like protein 1) are found in more than a third of hearing-impaired Jewish patients of Moroccan ancestry.
the identification of a previously identified c.100C>T mutation, and a novel homozygous mutation, c.1283C>A in TMC1, in this study supports TMC1 gene as one of the second-tier hearing loss genes, after GJB2 in India. Testing for TMC1 may be considered in all GJB2-negative nonsyndromic hearing loss cases
two novel mutations in the WHRN and TMC1 genes are responsible for founder effects of hereditary hemochromatosis, Wilson s disease, the long QT syndrome and autosomal recessive deafness in a Swedish pedigree
But the great majority of evidence is consistent with these TMCs as pore-forming subunits of the long-sought hair-cell transduction channel. [review]
a novel TMC1 mutation in exon 20, c.1979C>T, p.P660L, which segregated with prelingual autosomal recessive sensorineural hearing loss, was found.
there is hypo-functional TMC1 mechanotransduction channel activity and other even less damaging variants of TMC1 may be associated with more common mild-to-severe sensorineural hearing loss.
TMC1 has been identified as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
The first mutation in the TMC1 gene in the Moroccan population causing non-syndromic hearing loss.
The novel compound heterozygous mutant alleles of TMC1 identified in this study were responsible for the autosomal recessive non-syndromic hearing loss in this Tibetan Chinese family.
one heterozygous, non-synonymous variant was detected, with the SNP causing an amino acid substitution in TMC1 in a Polish family with hearing impairment
Co-segregation of c.2030T>C mutation with hearing loss in an Iranian family and absence of this mutation in 100 Iranian controls confirms the pathogenicity of this mutation.
TMC1 mutations disrupt hair cell mechanoelectrical transduction and are responsible for DFNA36 and DFNB7/B11. [Review Article]
TMC1 is expressed in the hair cells in inner ear.
Description of the spectrum of mutations in TMC1 in 374 families with autosomal recessive, non-syndromic hearing loss from India.
hearing loss in this family was caused by novel compound heterozygous mutations in TMC1
DNA sequencing of all coding and non-coding exons and intron boundaries of the TMC1 gene identified c.-258A>C mutation in non-coding exon 3 only in individuals from two ethnically related Iranian with hearing loss.
A single founder mutation, c.100C>T (p.Arg34X) that dominates the TMC1 mutation spectrum is not a significant cause of deafness in British Aasians.
We generated a model of TMC1 based on X-ray and cryo-EM structures of TMEM16 proteins, revealing the presence of a large cavity near the protein-lipid interface that also harbors the Beethoven mutation, suggesting that it could function as a permeation pathway.
Transmembrane cochlear expressed gene 1 protein (TMC1)-dependent channels have larger single-channel conductance and in outer hair cells (OHCs) support a tonotopic apex-to-base conductance gradient.
This study showed that calcium and integrin-binding protein 2 binds to the components of the hair cell mechanotransduction complex, TMC1 and TMC2, and these interactions are disrupted by deafness-causing Cib2 mutations.
TMC1 and TMC2 are components of the stereocilia mechanoelectrical transduction channel complex.
The results suggest that a major component of channel adaptation is regulated by changes in intracellular Ca(2+).
This study demonstrated that the M412K point mutation in TMC1 of Beethoven mice leads to a reduced Ca2+ permeability, more so in Tmc1Bth/Bth than in Tmc1Bh/+, and conductance of the MET channel of Mouse Outer Hair Cells.
gene augmentation with Tmc1 or Tmc2 is well suited for further development as a strategy for restoration of auditory function in deaf patients who carry TMC1 mutations
During the first postnatal week, we observed a normal mechanotransducer current in hair cells lacking Tmc1 or Tmc2; however, in the absence of both isoforms, we recorded a large MT current that was phase-shifted 180 degrees .
This study demonstrate TMC1 is components of hair cell transduction channels and contribute to permeation properties.
Tmc1 is expressed in mouse vestibular & cochlear hair cells near the stereocilia tips. Deletion of Tmc1 & Tmc2 causes deafness. Restoration of Tmc1 rescues mechanotransduction.
Tmc1 was present within the endoplasmic reticulum as an integral membrane protein containing six transmembrane domains and cytosolic N- and C-termini.
role in mouse models of deafness [review]
Excess of social and/or physical stimulation in Ts65Dn mice may affect cognition by disturbing the emotional and behavioral components of the learning process.
This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown\; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness.
transmembrane channel-like protein 1
, transmembrane channel-like 1
, transmembrane channel-like protein 1-like
, transmembrane cochlear-expressed protein 1
, transmembrane, cochlear expressed, 1
, transmembrane channel-like gene family 1
, deafness protein
, transmembrane, cochlear expressed 1