CHM Antibody

1. Molecular genetics characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. PMID: 29555028
2. our results suggest that c.280delA (p.Thr94LeufsTer32) in CHM was a pathogenic mutation in the present choroideremia family as determined by captured exome sequencing. PMID: 29620233
3. REP1 plays a crucial role in regulating mTOR signaling and its downstream pathways, as well as autophagy and macropinocytosis. PMID: 28846638
4. All coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c.184_189+3delTACCAGGTA) in one patient and a deletion of the entire exon 9 in the other. PMID: 28643494
5. These findings suggest that the CHM promoter region should be examined in patients with CHM who lack coding sequence mutations, and reveals, for the first time, features of the gene's regulation PMID: 28271586
6. We report here the characterization of the third pathogenic missense CHM variant, p.Leu457Pro. Clinically, the associated phenotype is indistinguishable from that of loss-of-function mutations. PMID: 28911202
7. Retinal dystrophy and SDD were detected in our female CHM carriers, and fundus patterns PMID: 28752371
8. Overexpression of REP1 in BEAS-2B cells enhanced cell growth and anchorage-independent colony formation with little increase in EGFR level and STAT3 activation. PMID: 28230863
9. we demonstrated that REP1 blocked the nuclear trans-localization of FOXO3 through physically interacting with FOXO3, thereby suppressing FOXO3-mediated apoptosis. Importantly, the inhibition of REP1 combined with 5-FU treatment could lead to significant retarded tumor growth in a xenograft tumor model of human cancer cells PMID: 28055019
10. Our results showed CNV within the Rep-1 gene could be an important contributor in Chinese Choroideremia patients. PMID: 28774736
11. In Choroideremia(Y42X/y) fibroblasts, there was a recovery of prenylation activity following treatment with either PTC124 (42 +/- 5%) or PTC-414 (36 +/- 11%), although an increase in REP1 protein was not detected in these cells, in contrast to the zebrafish model. PMID: 27329764
12. We describe the causative mutations in a large cohort of patients who also were examined clinically and explore potential genotype-phenotype correlations. By so doing, we further aimed to make inferences regarding the importance of particular regions of the CHM gene with respect to mutagenesis and to infer the importance of particular regions of the REP1 protein essential for normal function. PMID: 27820636
13. Six previously reported and five novel CHM mutations were detected in 11 Australian families clinically diagnosed with choroideremia. PMID: 25912515
14. The family segregated a REP1 mutation, suggesting choroideremia (CHM). PMID: 26720468
15. We report a novel CHM mutation, c.1475_1476insCA, identified by whole-exome sequencing in a family with X-linked CHM initially diagnosed as retinitis pigmentosa. PMID: 26216097
16. Sanger sequencing confirmed the mutations in CHM, including four novel (c.558_559delTT, c.964G>T, c.966delA, c.1166+2T>G) and two known (c.7031G>A and c.1584_1587delTGTT) mutations. PMID: 24913019
17. the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene, are reported. PMID: 24672218
18. While likely an uncommon event, duplication within the CHM gene could be considered as an explanation for CHM cases in which no mutation is found by sequence analysis. PMID: 23273018
19. Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases. PMID: 23940504
20. These findings demonstrate a novel CHM mutation that emphasizes severe posterior pole carrier phenotypes, age-related changes, and early choroideremia disease. PMID: 22965595
21. In Mainland Chinese families, the central visual acuity of male patients with CHM can be affected at an early age (second decade), whereas female CHM carriers may manifest signs and symptoms at a later age (>/= 45 years). PMID: 22355242
22. We identified a novel REP1 missense variant (c.1520A>G; p.H507R) associated with CHM that prevents REP1-Rab geranylgeranyl transferase interaction. PMID: 21905166
23. A novel mutation was detected in CHM gene in family 1. Another mutation within exon 14 of CHM was identified in family 2. The mutations caused night blindness, chorioretinal atrophy, and bareness of the sclera. PMID: 22025891
24. an interaction between a transmembrane receptor and RGGTA PMID: 21990357
25. It is suggested that expression levels of alternative transcripts of the CHM gene could be used as a molecular marker system to identify human cancers. PMID: 21939745
26. Intracellular vesicle transport, lysosomal acidification and rates of proteolytic degradation were studied in Choroideremia patients carrying 10 different loss-of-function REP1 mutations. PMID: 20027300
27. In vitro assembly and purification of the stoichiometric ternary complex of RabGGTase with REP-1 stabilized by a hydrolysis-resistant phosphoisoprenoid analog--farnesyl phosphonyl(methyl)phoshonate. PMID: 11886217
28. We report for the first time the identification of an intronic mutation remote from the exon-intron junctions that creates a strong acceptor splice site and leads to the inclusion of a cryptic exon into the CHM mRNA. PMID: 12827496
29. Frameshift mutation of REP-1 gene is associated with choroideremia PMID: 14566650
30. The C terminus of the REP-1 molecule functions as a mobile lid covering a conserved hydrophobic patch on the surface of REP-1 that in the complex coordinates the C terminus of Rab proteins. PMID: 15186776
31. Chm is essential for diploid trophoblast development and plays a role in the vascularization in placenta and yolk sac PMID: 15242790
32. DNA analysis revealed that the patient was heterozygous for a previously undescribed substitution mutation at the 3'-splice site of intron 6 of the CHM gene (850-1 G to C), confirmed by mRNA analysis with reverse transcriptase polymerase chain reaction. PMID: 15465555
33. The s found a 402delT and a 555-556delAG mutation in the CHM gene, one of which (402delT) is a novel mutation. PMID: 15579993
34. Normal electroretinogram is preserved in patients with nonsense mutation in exon 6 of the choroideremia CHM gene. PMID: 16087855
35. The results represent in vivo evidence in humans for retinal remodeling and provide a marker for the earliest stage of this response to genetic retinal disease. PMID: 16936131
36. Deletion of the CHM gene causes severe choroideremia. Results of serial ERGs and fundus examinations documented progression first of rod and then of cone disease. PMID: 17698759
37. This is the first study reporting mutations in the CHM gene in Chinese families. Mutational analysis was performed at the DNA, mRNA and protein levels. Five truncating mutations were found, and two of these were novel. PMID: 18087237
38. Novel type of mutation did not result in a truncated or absent protein. Rather, these patients lost different parts of the REP-1 mRNA in-frame that in all the cases encode a conserved protein domain implicated in the interaction with Rab proteins. PMID: 18385043
39. Fundus autofluorescence patterin is specific to syndromic choroideremia carriers and thus will help to identify and differentiate between carriers of other X-linked recessive carrier states such as in X-linked retinitis pigmentosa. PMID: 18487380
40. When over-expressed in cells, REP wild-type and mutants are unable to form stable cytosolic complexes with endogenous unprenylated Rabs. PMID: 18532927
41. A novel (967-970+2)delAAAGGT mutation existed in the CHM gene of a Japanese family with choroideremia. PMID: 18773267
42. All 6 carriers of CHM showed a characteristic FAF pattern that can guide mutation analysis. PMID: 19376587
43. Genomic DNA from the living brother revealed a transition mutation, C to T, in exon 6 which resulted in a stop codon and was predicted to truncate the protein product. PMID: 19422966
44. report pathogenic mutations: a novel missense mutation, L550P; a truncation c.1542T>A, STOP; and two deletions (c.525_526delAG and c.1646delC) in the CHM gene and their phenotypic effect in choroideremia PMID: 19427510
45. The typical mottled irregularity in fundus autofluorescence is a valuable diagnostic criterion that facilitates specific genetic testing. PMID: 19597113
46. CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. PMID: 19764077

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HGNC: 1940

OMIM: 300390

KEGG: hsa:1121

STRING: 9606.ENSP00000350386

UniGene: Hs.496449