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Select item 83920581.

Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription

Tiziana Fioretti, Valentina Di Iorio, Barbara Lombardo, Francesca De Falco, Armando Cevenini, Fabio Cattaneo, Francesco Testa, Lucio Pastore, Francesca Simonelli, Gabriella Esposito

Genes (Basel) 2021 Aug; 12(8): 1111. Published online 2021 Jul 22. doi: 10.3390/genes12081111

PMCID:: PMC8392058

Abstract Article PDF–1.6M

Select item 75227192.

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families

Takaaki Hayashi, Shuhei Kameya, Kei Mizobuchi, Daiki Kubota, Sachiko Kikuchi, Kazutoshi Yoshitake, Atsushi Mizota, Akira Murakami, Takeshi Iwata, Tadashi Nakano

Sci Rep. 2020; 10: 15883. Published online 2020 Sep 28. doi: 10.1038/s41598-020-72623-1

PMCID:: PMC7522719

Abstract Article PDF–1.5M

Select item 73296263.

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

Mariana Matioli da Palma, Fabiana Louise Motta, Caio Perez Gomes, Mariana Vallim Salles, João Bosco Pesquero, Juliana Maria Ferraz Sallum

Invest Ophthalmol Vis Sci. 2020 Feb; 61(2): 38. Published online 2020 Feb 25. doi: 10.1167/iovs.61.2.38

PMCID:: PMC7329626

Abstract Article PDF–1.0M

Select item 72684994.

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses

Feng-Juan Gao, Guo-Hong Tian, Fang-Yuan Hu, Dan-Dan Wang, Jian-Kang Li, Qing Chang, Fang Chen, Ge-Zhi Xu, Wei Liu, Ji-Hong Wu

BMC Ophthalmol. 2020; 20: 212. Published online 2020 Jun 1. doi: 10.1186/s12886-020-01478-x

PMCID:: PMC7268499

Abstract Article PDF–1.4M

Select item 72182185.

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia

Handong Dan, Tuo Li, Xinlan Lei, Xin Huang, Yiqiao Xing, Yin Shen

Biosci Rep. 2020 May 29; 40(5): BSR20200067. Published online 2020 May 12. doi: 10.1042/BSR20200067

PMCID:: PMC7218218

Abstract Article PDF–1018K

Select item 70329566.

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

Kanmin Xue, Jasleen K Jolly, Alun R Barnard, Anna Rudenko, Anna P Salvetti, Maria I Patrício, Thomas L Edwards, Markus Groppe, Harry O Orlans, Tanya Tolmachova, Graeme C Black, Andrew R Webster, Andrew J Lotery, Graham E Holder, Susan M Downes, Miguel C Seabra, Robert E MacLaren

Nat Med. Author manuscript; available in PMC 2020 Feb 20.

Published in final edited form as: Nat Med. 2018 Oct 1; 24(10): 1507–1512. Published online 2018 Oct 8. doi: 10.1038/s41591-018-0185-5

PMCID:: PMC7032956

Abstract Article PDF–1.5M

Select item 56185157.

REP1 Modulates Autophagy and Macropinocytosis to Enhance Cancer Cell Survival

Jungwon Choi, Hyena Kim, Young Ki Bae, Heesun Cheong

Int J Mol Sci. 2017 Sep; 18(9): 1866. Published online 2017 Aug 28. doi: 10.3390/ijms18091866

PMCID:: PMC5618515

Abstract Article PDF–4.4M

Select item 55007448.

Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

Kunho Bae, Ju Sun Song, Chung Lee, Nayoung K.D. Kim, Woong-Yang Park, Byoung Joon Kim, Chang-Seok Ki, Sang Jin Kim

Ann Lab Med. 2017 Sep; 37(5): 438–442. Published online 2017 Jun 20. doi: 10.3343/alm.2017.37.5.438

PMCID:: PMC5500744

Abstract Article PDF–1.5M

Select item 51025699.

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype

Matthew P. Simunovic, Jasleen K. Jolly, Kanmin Xue, Thomas L. Edwards, Markus Groppe, Susan M. Downes, Robert E. MacLaren

Invest Ophthalmol Vis Sci. 2016 Nov; 57(14): 6033–6039. doi: 10.1167/iovs.16-20230

PMCID:: PMC5102569

Abstract Article PDF–532K

Select item 482915510.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J. Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso

PLoS One. 2016; 11(4): e0151943. Published online 2016 Apr 12. doi: 10.1371/journal.pone.0151943

PMCID:: PMC4829155

Abstract Article PDF–1.1M

Select item 469940711.

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

Alice Yang Zhang, Naveen Mysore, Hojatollah Vali, Jamie Koenekoop, Sang Ni Cao, Shen Li, Huanan Ren, Vafa Keser, Irma Lopez-Solache, Sorath Noorani Siddiqui, Ayesha Khan, Jeannie Mui, Kelly Sears, Jim Dixon, Jeremy Schwartzentruber, Jacek Majewski, Nancy Braverman, Robert K. Koenekoop

Invest Ophthalmol Vis Sci. 2015 Dec; 56(13): 8158–8165. Published online 2015 Dec 28. doi: 10.1167/iovs.14-15751

PMCID:: PMC4699407

Abstract Article PDF–3.1M

Select item 451740912.

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa

Hui Guo, Jisheng Li, Fei Gao, Jiangxia Li, Xinyi Wu, Qiji Liu

BMC Ophthalmol. 2015; 15: 85. Published online 2015 Jul 28. doi: 10.1186/s12886-015-0081-4

PMCID:: PMC4517409

Abstract Article PDF–1.4M

Select item 398492113.

Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation

Alex S. Huang, Leo A. Kim, Amani A. Fawzi

Arch Ophthalmol. Author manuscript; available in PMC 2014 Apr 13.

Published in final edited form as: Arch Ophthalmol. 2012 Sep; 130(9): 1184–1189. doi: 10.1001/archophthalmol.2012.1117

PMCID:: PMC3984921

Abstract Article PDF–3.5M

Select item 396272714.

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene

Maria T. Contestabile, Maria Piane, Nikhil C. Cascone, Nadia Pasquale, Angela Ciarnella, Santi M. Recupero, Luciana Chessa

Mol Vis. 2014; 20: 325–333. Published online 2014 Mar 15.

PMCID:: PMC3962727

Abstract Article PDF–1.2M

Select item 328321715.

Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia

Qi Zhou, Liang Liu, Fei Xu, Hui Li, Yuri Sergeev, Fangtian Dong, Ruxin Jiang, Ian MacDonald, Ruifang Sui

Mol Vis. 2012; 18: 309–316. Published online 2012 Feb 3.

PMCID:: PMC3283217

Abstract Article PDF–7.9M

Select item 319849616.

Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia

Ying Lin, Xialin Liu, Lixia Luo, Bo Qu, Shuhong Jiang, Huiqin Yang, Xuanwei Liang, Shaobi Ye, Yizhi Liu

Mol Vis. 2011; 17: 2564–2569. Published online 2011 Sep 30.

PMCID:: PMC3198496

Abstract Article PDF–737K

Select item 279300417.

Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

Natalia V. Strunnikova, Jennifer Barb, Yuri V. Sergeev, Ashwin Thiagarajasubramanian, Christopher Silvin, Peter J. Munson, Ian M. MacDonald

PLoS One. 2009; 4(12): e8402. Published online 2009 Dec 22. doi: 10.1371/journal.pone.0008402

PMCID:: PMC2793004

Abstract Article PDF–781K

Select item 268079718.

The functional effect of pathogenic mutations in Rab escort protein 1

YV Sergeev, N Smaoui, R Sui, D Stiles, N Gordiyenko, N Strunnikova, IM MacDonald

Mutat Res. Author manuscript; available in PMC 2010 Jun 1.

Published in final edited form as: Mutat Res. 2009 Jun 1; 665(1-2): 44–50. Published online 2009 Mar 13. doi: 10.1016/j.mrfmmm.2009.02.01

PMCID:: PMC2680797

Abstract Article PDF–2.0M

Select item 267995819.

Choroideremia: New Findings from Ocular Pathology and Review of Recent Literature

Ian M. MacDonald, Laurie Russell, Chi-Chao Chan

Surv Ophthalmol. Author manuscript; available in PMC 2010 May 1.

Published in final edited form as: Surv Ophthalmol. 2009; 54(3): 401–407. doi: 10.1016/j.survophthal.2009.02.008

PMCID:: PMC2679958

Abstract Article PDF–722K

Select item 168379720.

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

Frans P. M. Cremers, Eeva-Marja Sankila, Frank Brunsmann, Marcelle Jay, Barrie Jay, Alan Wright, Alfred J. L. G. Pinckers, Marianne Schwartz, Dorien J. R. van de Pol, Bé Wieringa, Albert de la Chapelle, Ivar H. Pawlowitzki, Hans-Hilger Ropers

Am J Hum Genet. 1990 Oct; 47(4): 622–628.

PMCID:: PMC1683797

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