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TRPM1 encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. Zusätzlich bieten wir Ihnen TRPM1 Antikörper (24) und TRPM1 Kits (5) und viele weitere Produktgruppen zu diesem Protein an.
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The C > T SNP in intron 11 of the TRPM1 transcript found in Congenital stationary night-blindness horses introduces a functional binding site for the tissue-specific neuro-oncological ventral antigen 1 (Nova-1 (zeige NOVA1 Proteine))
Evidence for a retroviral insertion in TRPM1 as the cause of congenital stationary night blindness and leopard complex spotting in the horse.
In the Miniature Horse, congenital stationary night blindness is perfectly associated with leopard complex spotting patterns and SNPs in the candidate gene TRPM1.
Re-sequencing of the gene and associated splice sites within the 105 624 bp genomic region of TRPM1 led to the discovery of 18 SNPs.
Decreased expression of TRPM1 in the eye and the skin may alter bipolar cell signaling as well as melanocyte function, thus causing both stationary night blindness and coat spotting patterns in horses.
We have confirmed the TRPM1 36,445 bp deletion is a founder mutation in the Ashkenazi-Jewish (AJ) population with a carrier rate of 1 in 50. We have also confirmed the 35,741 bp deletion in the CACNA2D4 (zeige CACNA2D4 Proteine) gene is a founder mutation in the AJ population with a carrier rate of 1 in 56.
Loss of TRPM1 mRNA expression appears to be a crucial event in the progression of melanoma to a more malignant, metastatic phenotype.
This study reveals the structural underpinnings of TRPML1 (zeige MCOLN1 Proteine)'s regulation, assembly and pathogenesis.
Affected family members harboured the homozygous 1-bp deletion c.2394delC in exon 18 of the TRPM1 gene, whereas their unaffected parents were heterozygous carriers.
genotype-phenotype correlations showed that this eye phenotype was secondary to homozygous deletion of TRPM1, the gene responsible for autosomal recessive congenital stationary night blindness. The main differential diagnosis is ceroid lipofuscinosis.
these data indicate that purified TRPM1 is mostly dimeric. The three-dimensional structure of TRPM1 dimers is characterized by a small putative transmembrane domain and a larger domain with a hollow cavity.
visual deficits in melanoma associated (zeige ZNF654 Proteine) retinopathy are caused by the uptake of TRPM1 autoantibodies into ON-bipolar cells
This is the first reported case of a melanoma-associated (zeige ZNF654 Proteine) retinopathy diagnosed utilizing the innovative approach of testing for serum TRPM1 autoantibodies.
These data suggest differences in coupling of TRPM1 function to mGluR6 (zeige GRM6 Proteine) signaling explain different cellular responses to glutamate (zeige GRIN1 Proteine) in the retina and the skin.
We found 13 different mutations in the TRPM1 gene in congenital stationary night blindness.
TRPM1 and mGluR6 (zeige GRM6 Proteine) are both essential components in the signaling pathway.
results suggest that TRPM1 channel opening is essential for rod bipolar pathway establishment in development
This study confirmed the localization of LRIT3 at the dendritic tips of depolarizing bipolar cells in mouse retina and demonstrated the dependence of TRPM1 localization on the presence of LRIT3.
results indicate that the serum of a patient with PR contained an antibody against TRPM1 caused an acute death of retinal ON bipolar cells of mice
TRPM1 is not essential for the development of hearing or balance in the mouse model and it is unlikely that TRPM1 is the hair cell mechanotransduction channel.
The data indicates that the A1068T mutant TRPM1 acts as a dominant negative with respect to TRPM1 channel function.
Results suggest a model in which the Gbetagamma dimer that is released as a result of the dissociation from Galpha(o (zeige GNAO1 Proteine)) upon activation of mGluR6 (zeige GRM6 Proteine) closes the TRPM1 channel, perhaps via a direct interaction.
The results suggested that the TRPM1 channel in metabotropic glutamate receptor 6 (zeige GRM6 Proteine)-null rod bipolar cells is inactive. Rod bipolar cells in metabotropic glutamate receptor 6 (zeige GRM6 Proteine)-null mice were hyperpolarized.
TRPM1 is involved in non-image-forming responses to light and may perform a functional role within photosensitive retinal ganglion cells
This review describes the differential expression of TRPM1-S (short form) and -L (long form) in the mouse retina. TRPM1-L encodes a predicted 1,622 amino acid protein containing six transmembrane domains.
This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants.
transient receptor potential cation channel, subfamily M, member 1
, transient receptor potential melastatin 1b
, transient receptor potential cation channel subfamily M member 1-like
, long transient receptor potential channel 1
, transient receptor potential cation channel subfamily M member 1
, transient receptor potential melastatin family
, melastatin 1