| TRPM1 promotes tumor progression in acral melanoma by activating the Ca[2+]/CaMKIIdelta/AKT pathway. | TRPM1 promotes tumor progression in acral melanoma by activating the Ca(2+)/CaMKIIδ/AKT pathway.
Hsieh CC, Su YC, Jiang KY, Ito T, Li TW, Kaku-Ito Y, Cheng ST, Chen LT, Hwang DY, Shen CH., Free PMC Article | 02/11/2023 |
| The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration. | The LHX2-OTX2 transcriptional regulatory module controls retinal pigmented epithelium differentiation and underlies genetic risk for age-related macular degeneration.
Cohen-Gulkar M, David A, Messika-Gold N, Eshel M, Ovadia S, Zuk-Bar N, Idelson M, Cohen-Tayar Y, Reubinoff B, Ziv T, Shamay M, Elkon R, Ashery-Padan R., Free PMC Article | 01/21/2023 |
| Clinical and genetic findings in TRPM1-related congenital stationary night blindness. | Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI. | 08/27/2022 |
| Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1. | Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.
Delle Fave M, Cordonnier M, Vallee L, Condroyer C, Zeitz C, Balikova I. | 01/1/2022 |
| Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population. | Association Analysis Between Common Variants of the TRPM1 Gene and Three Mental Disorders in the Han Chinese Population.
Ma C, Li X, Chen J, Li Z, Guan J, Li Y, Yin S, Shi Y., Free PMC Article | 06/26/2021 |
| Serum SUR1 and TRPM4 in patients with subarachnoid hemorrhage. | Serum SUR1 and TRPM4 in patients with subarachnoid hemorrhage.
Dundar TT, Abdallah A, Yurtsever I, Guler EM, Ozer OF, Uysal O. | 05/1/2021 |
| Genetic polymorphisms of transient receptor potential melastatin 1 correlate with voriconazole-related visual adverse events. | Genetic polymorphisms of transient receptor potential melastatin 1 correlate with voriconazole-related visual adverse events.
Jiang YK, Wang RY, Wang X, Zhao HZ, Zhou LH, Huang LP, Yip CW, Cheng JH, Que CX, Jiang C, Zhu LP. | 02/2/2021 |
| TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations. | TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
AlTalbishi A, Zelinger L, Zeitz C, Hendler K, Namburi P, Audo I, Sheffer R, Yahalom C, Khateb S, Banin E, Sharon D., Free PMC Article | 02/2/2021 |
| A case of melanoma-associated retinopathy with autoantibodies against TRPM1. | A case of melanoma-associated retinopathy with autoantibodies against TRPM1.
Kim MS, Hong HK, Ko YJ, Park KH, Ueno S, Okado S, Woo SJ, Joo K. | 11/21/2020 |
| A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in TRPM1 was identified in two siblings. | Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.
Al-Hujaili H, Taskintuna I, Neuhaus C, Bergmann C, Schatz P., Free PMC Article | 06/20/2020 |
| TRPM1-associated cCSNB is a channelopathy that may present without complaints of night blindness in childhood. | Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV., Free PMC Article | 09/14/2019 |
| The results indicate that the majority of transient receptor potential melastatin-1 is present in the endoplasmic reticulum, from which it can potentially be transported to the dendritic tips as needed for ON light responses. | A Large Endoplasmic Reticulum-Resident Pool of TRPM1 in Retinal ON-Bipolar Cells.
Agosto MA, Anastassov IA, Robichaux MA, Wensel TG., Free PMC Article | 01/26/2019 |
| 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 gene is a founder mutation in the AJ population with a carrier rate of 1 in 56. | Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes.
Chiang JP, Luo H, Duan J, Ekstein J, Hirsch Y. | 06/30/2018 |
| These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone. | Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.
Persad PJ, Heid IM, Weeks DE, Baird PN, de Jong EK, Haines JL, Pericak-Vance MA, Scott WK, International Age-Related Macular Degeneration Genomics Consortium (IAMDGC)., Free PMC Article | 08/26/2017 |
| Loss of TRPM1 mRNA expression appears to be a crucial event in the progression of melanoma to a more malignant, metastatic phenotype. | TRPM1 (melastatin) expression is an independent predictor of overall survival in clinical AJCC stage I and II melanoma patients.
Brożyna AA, Guo H, Yang SE, Cornelius L, Linette G, Murphy M, Sheehan C, Ross J, Slominski A, Carlson JA. | 07/1/2017 |
| This study reveals the structural underpinnings of TRPML1's regulation, assembly and pathogenesis. | Structural basis of dual Ca(2+)/pH regulation of the endolysosomal TRPML1 channel.
Li M, Zhang WK, Benvin NM, Zhou X, Su D, Li H, Wang S, Michailidis IE, Tong L, Li X, Yang J., Free PMC Article | 06/24/2017 |
| 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. | Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
Al Oreany AA, Al Hadlaq A, Schatz P. | 04/22/2017 |
| 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. | Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis.
Masurel-Paulet A, Drumare I, Holder M, Cuisset JM, Vallée L, Defoort S, Bourgois B, Pernes P, Cuvellier JC, Huet F, Chehadeh SE, Thevenon J, Callier P, Thauvin C, Faivre L, Andrieux J. | 01/17/2015 |
| 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. | Oligomeric state of purified transient receptor potential melastatin-1 (TRPM1), a protein essential for dim light vision.
Agosto MA, Zhang Z, He F, Anastassov IA, Wright SJ, McGehee J, Wensel TG., Free PMC Article | 12/20/2014 |
| visual deficits in melanoma associated retinopathy are caused by the uptake of TRPM1 autoantibodies into ON-bipolar cells | Serum TRPM1 autoantibodies from melanoma associated retinopathy patients enter retinal on-bipolar cells and attenuate the electroretinogram in mice.
Xiong WH, Duvoisin RM, Adamus G, Jeffrey BG, Gellman C, Morgans CW., Free PMC Article | 03/22/2014 |
| This is the first reported case of a melanoma-associated retinopathy diagnosed utilizing the innovative approach of testing for serum TRPM1 autoantibodies. | Diagnosis of occult melanoma using transient receptor potential melastatin 1 (TRPM1) autoantibody testing: a novel approach.
Dalal MD, Morgans CW, Duvoisin RM, Gamboa EA, Jeffrey BG, Garg SJ, Chan CC, Sen HN., Free PMC Article | 02/1/2014 |
| These data suggest differences in coupling of TRPM1 function to mGluR6 signaling explain different cellular responses to glutamate in the retina and the skin. | Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes.
Devi S, Markandeya Y, Maddodi N, Dhingra A, Vardi N, Balijepalli RC, Setaluri V., Free PMC Article | 11/23/2013 |
| We found 13 different mutations in the TRPM1 gene in congenital stationary night blindness. | Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. | 11/23/2013 |
| The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB),No variations were found in TRPM1. | Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
Wang Q, Gao Y, Li S, Guo X, Zhang Q. | 11/17/2012 |
| present investigation found no evidence for an association between sequence variation at the TRPM1 gene and albumin-to-creatinine ratio in Mexican Americans, although it appears to have modest influence on T2DM risk factors | Genetic variants in transient receptor potential cation channel, subfamily M 1 (TRPM1) and their risk of albuminuria-related traits in Mexican Americans.
Thameem F, Puppala S, Arar NH, Blangero J, Duggirala R, Abboud HE., Free PMC Article | 02/4/2012 |