| Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia. | Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.
Sarkar H, Tracey-White D, Hagag AM, Burgoyne T, Nair N, Jensen LD, Edwards MM, Moosajee M., Free PMC Article | 01/5/2024 |
| Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE. | Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE.
Iwagawa T, Masumoto H, Tabuchi H, Tani K, Conklin BR, Watanabe S., Free PMC Article | 02/13/2023 |
| CHM mutation spectrum and disease: An update at the time of human therapeutic trials. | CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
Zeitz C, Nassisi M, Laurent-Coriat C, Andrieu C, Boyard F, Condroyer C, Démontant V, Antonio A, Lancelot ME, Frederiksen H, Kloeckener-Gruissem B, El-Shamieh S, Zanlonghi X, Meunier I, Roux AF, Mohand-Saïd S, Sahel JA, Audo I. | 04/9/2022 |
| REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia. | REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia.
Cunha DL, Richardson R, Tracey-White D, Abbouda A, Mitsios A, Horneffer-van der Sluis V, Takis P, Owen N, Skinner J, Welch AA, Moosajee M., Free PMC Article | 02/19/2022 |
| Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription. | Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription.
Fioretti T, Di Iorio V, Lombardo B, De Falco F, Cevenini A, Cattaneo F, Testa F, Pastore L, Simonelli F, Esposito G., Free PMC Article | 02/12/2022 |
| Whole-exome sequencing identified a novel mutation in CHM of a Chinese family. | Whole-exome sequencing identified a novel mutation in CHM of a Chinese family.
Tang H, Mao J, Xiang J, Liu M, Li H, Wang T. | 09/11/2021 |
| CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA. | CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.
Han X, Wu S, Li H, Zhu T, Wei X, Zhou Q, Sui R. | 08/28/2021 |
| Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene. | Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.
Ortiz-Ramirez GY, Villanueva-Mendoza C, Zenteno Ruiz JC, Reyes M, Cortés-González V. | 06/26/2021 |
| Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses. | Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.
Gao FJ, Tian GH, Hu FY, Wang DD, Li JK, Chang Q, Chen F, Xu GZ, Liu W, Wu JH., Free PMC Article | 04/13/2021 |
| Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia. | Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia.
Dan H, Li T, Lei X, Huang X, Xing Y, Shen Y., Free PMC Article | 03/27/2021 |
| CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA. | CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA.
Fischer MD, Ochakovski GA, Beier B, Seitz IP, Vaheb Y, Kortuem C, Reichel FFL, Kuehlewein L, Kahle NA, Peters T, Girach A, Zrenner E, Ueffing M, MacLaren RE, Bartz-Schmidt K, Wilhelm B. | 02/6/2021 |
| Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families. | Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.
Hayashi T, Kameya S, Mizobuchi K, Kubota D, Kikuchi S, Yoshitake K, Mizota A, Murakami A, Iwata T, Nakano T., Free PMC Article | 12/26/2020 |
| The molecular and clinical findings in the current case provide strong evidence that c.1359C>T (p.(Gln451Phefs*3)) in the CHM gene should be considered a disease-causing variant in Choroideremia | Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia.
da Palma MM, Motta FL, Gomes CP, Salles MV, Pesquero JB, Sallum JMF., Free PMC Article | 04/18/2020 |
| Our analysis of morphological and functional parameters in choroideremia patients showed a slow disease progression, particularly in the first decades of life. Overall, reevaluation of clinical and molecular data suggests exploring the genotype-phenotype relationship based on CHM/REP1 transcript expression. | CHM/REP1 Transcript Expression and Loss of Visual Function in Patients Affected by Choroideremia.
Di Iorio V, Esposito G, De Falco F, Boccia R, Fioretti T, Colucci R, De Rosa G, Melillo P, Salvatore F, Simonelli F, Testa F. | 09/21/2019 |
| One serious adverse event was experienced in 6 subjects treated with a subfoveal injection of AAV2.REP1. The area of remaining functional RPE in the treated eye and untreated eye declined at the same rate over a 2-year period. | Two-Year Results After AAV2-Mediated Gene Therapy for Choroideremia: The Alberta Experience.
Dimopoulos IS, Hoang SC, Radziwon A, Binczyk NM, Seabra MC, MacLaren RE, Somani R, Tennant MTS, MacDonald IM. | 08/17/2019 |
| A novel two-base-pair deletion (p. Tyr565Ter fsX) in CHM (choroideremia) was found to segregate with with retinal dystrophy in a North American family. | Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.
Branham K, Guru AA, Kozak I, Biswas P, Othman M, Kishaba K, Mansoor H, Riazuddin S, Heckenlively JR, Riazuddin SA, Hejtmancik JF, Sieving PA, Ayyagari R. | 05/11/2019 |
| We designed an adeno-associated viral vector to express REP1 and assessed it in a gene therapy clinical trial by subretinal injection in 14 patients with choroideremia..The results suggest that retinal gene therapy can sustain and improve visual acuity in a cohort of predominantly late-stage choroideremia patients in whom rapid visual acuity loss would ordinarily be predicted | Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.
Xue K, Jolly JK, Barnard AR, Rudenko A, Salvetti AP, Patrício MI, Edwards TL, Groppe M, Orlans HO, Tolmachova T, Black GC, Webster AR, Lotery AJ, Holder GE, Downes SM, Seabra MC, MacLaren RE., Free PMC Article | 05/11/2019 |
| Genetic diagnosis via massive sequencing is instrumental in identifying causative mutations in retinal dystrophies and additional genetic variants with an impact on the phenotype. Multi-Mendelian phenotypes previously ascribed to rare syndromes can thus be dissected and molecularly diagnosed. | Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.
de Castro-Miró M, Tonda R, Marfany G, Casaroli-Marano RP, Gonzàlez-Duarte R. | 03/30/2019 |
| Molecular genetics characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia. | Molecular genetics characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia.
Imani S, Ijaz I, Shasaltaneh MD, Fu S, Cheng J, Fu J. | 10/27/2018 |
| 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. | A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.
Ouyang P, Li Y, Zhang F, Zhu C, Zou B, Le J, Zhang L. | 09/29/2018 |
| REP1 plays a crucial role in regulating mTOR signaling and its downstream pathways, as well as autophagy and macropinocytosis. | REP1 Modulates Autophagy and Macropinocytosis to Enhance Cancer Cell Survival.
Choi J, Kim H, Bae YK, Cheong H., Free PMC Article | 04/28/2018 |
| 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. | Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.
Bae K, Song JS, Lee C, Kim NKD, Park WY, Kim BJ, Ki CS, Kim SJ., Free PMC Article | 04/7/2018 |
| 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 | Single-base substitutions in the CHM promoter as a cause of choroideremia.
Radziwon A, Arno G, K Wheaton D, McDonagh EM, Baple EL, Webb-Jones K, G Birch D, Webster AR, MacDonald IM. | 02/24/2018 |
| 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. | Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
Torriano S, Erkilic N, Faugère V, Damodar K, Hamel CP, Roux AF, Kalatzis V. | 01/20/2018 |
| Retinal dystrophy and SDD were detected in our female CHM carriers, and fundus patterns | Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.
Murro V, Mucciolo DP, Passerini I, Palchetti S, Sodi A, Virgili G, Rizzo S. | 12/16/2017 |