Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Ana Fragoso Fonseca, Rita Coelho, Mafalda Lopes-da-Silva, Luísa Lemos, Michael James Hall, Daniela Oliveira, Ana Sofia Falcão, Sandra Tenreiro, Miguel Cardoso Seabra, Pedro Anta. Modeling Choroideremia disease with isogenic induced Pluripotent Stem Cells. Stem cells and development. 2024-07-30. PMID:39078329. |
chm disease is characterized by a progressive degeneration of the choroid, the retinal pigment epithelium (rpe) and the retina. |
2024-07-30 |
2024-08-02 |
human |
Malia M Edwards, D Scott McLeod, Rhonda Grebe, Imran A Bhutto, Richa Dahake, Kelly Crumley, Gerard A Lutt. Glial remodeling and choroidal vascular pathology in eyes from two donors with Choroideremia. Frontiers in ophthalmology. vol 2. 2024-07-10. PMID:38983545. |
the extensive glial remodeling present in eyes with chm should be taken into account when therapies such as stem cell replacement are considered as it could impede cells entering the retina. |
2024-07-10 |
2024-07-12 |
Not clear |
Peiluo Xu, Yu You Jiang, Jessica I W Morga. Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy. Investigative ophthalmology & visual science. vol 64. issue 10. 2023-07-28. PMID:37504961. |
choroideremia (chm) is an x-linked inherited retinal degeneration causing loss of the photoreceptors, retinal pigment epithelium, and choriocapillaris, although patients typically retain a central island of relatively preserved, functioning retina until late-stage disease. |
2023-07-28 |
2023-08-14 |
Not clear |
Phitchapa Pongpaksupasin, Wasinee Wongkummool, Pirut Tong-Ngam, Natee Jearawiriyapaisarn, Kittiphong Paiboonsukwong, Siripakorn Sangkitporn, Adisak Trinavarat, La-Ongsri Atchaneeyasakul, Alisa Tubsuwa. A generation of human-induced pluripotent stem cell line (MUi032-A) from a Choroideremia disease patient carrying a hemizygous mutation on the CHM gene. Stem cell research. vol 65. 2022-11-17. PMID:36395688. |
chm patients develop progressive loss of vision due to degeneration of cell layers in the retina. |
2022-11-17 |
2023-08-14 |
Not clear |
Vasiliki Kalatzis, Anne-Françoise Roux, Isabelle Meunie. Molecular Therapy for Choroideremia: Pre-clinical and Clinical Progress to Date. Molecular diagnosis & therapy. vol 25. issue 6. 2021-11-29. PMID:34661884. |
furthermore, one phase 1 clinical trial has been initiated to evaluate the efficiency of a novel aav variant to deliver chm to the outer retina following intravitreal delivery. |
2021-11-29 |
2023-08-13 |
Not clear |
Dulce Lima Cunha, Rose Richardson, Dhani Tracey-White, Alessandro Abbouda, Andreas Mitsios, Verena Horneffer-van der Sluis, Panteleimon Takis, Nicholas Owen, Jane Skinner, Ailsa A Welch, Mariya Moosaje. REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia. JCI insight. vol 6. issue 9. 2021-11-04. PMID:33755601. |
chm is ubiquitously expressed, but adequate prenylation is considered to be achieved, outside the retina, through the isoform rep2. |
2021-11-04 |
2023-08-13 |
zebrafish |
Maria Brambati, Enrico Borrelli, Riccardo Sacconi, Francesco Bandello, Giuseppe Querque. Choroideremia: Update On Clinical Features And Emerging Treatments. Clinical ophthalmology (Auckland, N.Z.). vol 13. 2020-09-29. PMID:31819346. |
choroideremia (chm) is an x-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium and retina. |
2020-09-29 |
2023-08-13 |
Not clear |
Maurizio Battaglia Parodi, Alessandro Arrigo, Robert E MacLaren, Emanuela Aragona, Lisa Toto, Rodolfo Mastropasqua, Maria Pia Manitto, Francesco Bandell. VASCULAR ALTERATIONS REVEALED WITH OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN PATIENTS WITH CHOROIDEREMIA. Retina (Philadelphia, Pa.). vol 39. issue 6. 2020-08-04. PMID:29543633. |
expression of the chm gene is ubiquitous throughout the retina, and it is therefore important to identify which retinal layers are affected in the disease process. |
2020-08-04 |
2023-08-13 |
Not clear |
Maarjaliis Paavo, Jose R L Carvalho, Winston Lee, Jesse D Sengillo, Stephen H Tsang, Janet R Sparro. Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers. Investigative ophthalmology & visual science. vol 60. issue 12. 2020-01-10. PMID:31499530. |
to ascertain cellular constituents within islands of preserved retina in choroideremia (chm) by multimodal imaging. |
2020-01-10 |
2023-08-13 |
Not clear |
Stephen H Tsang, Tarun Sharm. X-linked Choroideremia. Advances in experimental medicine and biology. vol 1085. 2019-07-23. PMID:30578482. |
choroideremia (chm) is the most common x-linked hereditary choroidal dystrophy, characterized by progressive degeneration of the choriocapillaris, retinal pigment epithelium (rpe), and retina. |
2019-07-23 |
2023-08-13 |
Not clear |
Abby L Manthey, Kin Chiu, Kwok-Fai S. Effects of Lycium barbarum on the Visual System. International review of neurobiology. vol 135. 2018-04-30. PMID:28807155. |
we then describe the functions attributed to lbp using other cellular contexts to elucidate the full mechanisms this chm utilizes in the retina. |
2018-04-30 |
2023-08-13 |
Not clear |
Girish K Srivastava, David Rodriguez-Crespo, Amar K Singh, Clara Casado-Coterillo, Ivan Fernandez-Bueno, Maria T Garcia-Gutierrez, Joaquin Coronas, J Carlos Pasto. Chitosan feasibility to retain retinal stem cell phenotype and slow proliferation for retinal transplantation. BioMed research international. vol 2014. 2014-12-30. PMID:24719852. |
however, rscs transplantation needs an adequate support; chitosan membrane (chm) could be one, which can carry rscs with high feasibility to support their integration into retina. |
2014-12-30 |
2023-08-13 |
Not clear |
Girish K Srivastava, David Rodriguez-Crespo, Amar K Singh, Clara Casado-Coterillo, Ivan Fernandez-Bueno, Maria T Garcia-Gutierrez, Joaquin Coronas, J Carlos Pasto. Chitosan feasibility to retain retinal stem cell phenotype and slow proliferation for retinal transplantation. BioMed research international. vol 2014. 2014-12-30. PMID:24719852. |
chm does not alternate rscs behaviour and therefore can be used as a cell carrier so that slow proliferating rscs can migrate and integrate into retina. |
2014-12-30 |
2023-08-13 |
Not clear |
Margot A Lazow, Donald C Hood, Rithambara Ramachandran, Tomas R Burke, Yi-Zhong Wang, Vivienne C Greenstein, David G Birc. Transition zones between healthy and diseased retina in choroideremia (CHM) and Stargardt disease (STGD) as compared to retinitis pigmentosa (RP). Investigative ophthalmology & visual science. vol 52. issue 13. 2012-02-22. PMID:22076985. |
transition zones between healthy and diseased retina in choroideremia (chm) and stargardt disease (stgd) as compared to retinitis pigmentosa (rp). |
2012-02-22 |
2023-08-12 |
Not clear |
Ryan J Yau, Christina A Sereda, Kerry E McTaggart, Yves Sauvé, Ian M MacDonal. Choroideremia carriers maintain a normal electro-oculogram (EOG). Documenta ophthalmologica. Advances in ophthalmology. vol 114. issue 3. 2007-08-23. PMID:17333094. |
to assess the functional integrity of the retinal pigment epithelium and outer retina in choroideremia (chm) carriers with confirmed mutations in the rep-1 gene, by recording the eog. |
2007-08-23 |
2023-08-12 |
Not clear |
Samuel G Jacobson, Artur V Cideciyan, Alexander Sumaroka, Tomas S Aleman, Sharon B Schwartz, Elizabeth A M Windsor, Alejandro J Roman, Edwin M Stone, Ian M MacDonal. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Investigative ophthalmology & visual science. vol 47. issue 9. 2006-10-02. PMID:16936131. |
to characterize in detail the disease expression in choroideremia (chm), a blinding x-linked disease of the retina caused by loss-of-function mutations in rab escort protein 1 (rep-1). |
2006-10-02 |
2023-08-12 |
mouse |
Nicholas W Keiser, Waixing Tang, Zhangyong Wei, Jean Bennet. Spatial and temporal expression patterns of the choroideremia gene in the mouse retina. Molecular vision. vol 11. 2006-04-13. PMID:16357828. |
a study of the expression patterns of chm and the related gene chml in the mouse retina was undertaken in order to address this issue. |
2006-04-13 |
2023-08-12 |
mouse |
M García-Hoyos, R Sanz, D Diego-Alvarez, I Lorda-Sánchez, M J Trujillo-Tiebas, D Cantalapiedra, C Ramos, C Ayus. New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation. American journal of medical genetics. Part A. vol 138. issue 4. 2006-03-28. PMID:16222660. |
choroideremia (chm) is an x-linked recessive ophthalmic disease characterized by a progressive degeneration of the choroid and the pigmented epithelium of the retina. |
2006-03-28 |
2023-08-12 |
Not clear |
K Fujiki, Y Hotta, M Hayakawa, A Saito, Y Mashima, M Mori, M Yoshii, A Murakami, M Matsumoto, S Hayasaka, N Tagami, Y Isashiki, N Ohba, A Kana. REP-1 gene mutations in Japanese patients with choroideremia. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. vol 237. issue 9. 1999-10-13. PMID:10447648. |
choroideremia (chm) is an x-linked progressive dystrophy of the choroid, retinal pigment epithelium, and retina. |
1999-10-13 |
2023-08-12 |
Not clear |
N Nesslinger, G Mitchell, P Strasberg, I M MacDonal. Mutation analysis in Canadian families with choroideremia. Ophthalmic genetics. vol 17. issue 2. 1996-12-06. PMID:8832720. |
choroideremia (chm) is an x-linked heritable progressive dystrophy of the choroid and retina. |
1996-12-06 |
2023-08-12 |
Not clear |