Results 41 to 50 of about 7,465 (249)

Publication trends of Leber congenital amaurosis researches: a bibliometric study during 2002-2022. [PDF]

Int J Ophthalmol
AIM: To analyze the changes in scientific output relating to Leber congenital amaurosis (LCA) and forecast the study trends in this field. METHODS: All of the publications in the field of LCA from 2002 to 2022 were collected from Web of Science (WOS ...
Huang XX, Wang YM, Xie MY, Sun YQ, Zhao XH, Chen YH, Chen JQ, Han SY, Zhou MW, Sun XD.   +9 more
europepmc   +2 more sources

Generation of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65

Stem Cell Research
Leber Congenital Amaurosis 2 is an early onset retinal dystrophy that occurs due to mutation in RPE65 gene. Here, we report the generation of two patient specific induced pluripotent stem cell lines harboring nonsense mutations in exon 7 (c.646A > T) and
Savitri Maddileti, Sudipta Mahato, Trupti Agrawal, Vivek Pravin Dave, Milind N. Naik, Mohammad Javed Ali, Chitra Kannabiran, Subhadra Jalali, Giridhara R. Jayandharan, Indumathi Mariappan   +9 more
openalex   +3 more sources

Generation of a human iPSC line, INMi004-A, with a point mutation in CRX associated with autosomal dominant Leber congenital amaurosis

Stem Cell Research, 2019
The human induced pluripotent stem cell (iPSC) line, INMi004-A, was generated using dermal fibroblasts from a 6 year-old patient with autosomal dominant Leber Congenital Amaurosis (LCA) caused by the point mutation c.695delC (p.Pro232Argfs*139) in the ...
Nejla Erkilic, Carla Sanjurjo-Soriano, Gaël Manes, Gregor Dubois, Christian P. Hamel, Isabelle Meunier, Vasiliki Kalatzis   +6 more
doaj   +1 more source

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

, 2014
Background: Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1).
During, MJ, Reed Clark, K., Maclaren, Robert, Tolmachova, Tanya, Black, G.C.M., Seabra, Miguel C., Cottriall, Charles L., Groppe, M, Tolmachova, T, Black, Graeme C M, MacLaren, RE, Groppe, Markus, During, M.J., Reed Clark, K, Webster, A.R., Lotery, AJ, Barnard, Alun, Cremers, FPM, Clark, KR, MacLaren, Robert E., Cottriall, C.L., Downes, SM, Webster, AR, Seabra, MC, Cremers, Frans P M, Seymour, Len, Black, GCM, Downes, S.M., Seymour, L, Cottriall, CL, Cremers, F.P.M., Black, G.C., Clark, K., Seabra, M.C., Cremers, F.P., Groppe, M., Barnard, A.R., Barnard, AR, During, Matthew J., Black, GC, Lotery, Andrew J., Downes, Susan M., Seymour, L., Webster, Andrew R., MacLaren, R.E., Downes, Susan, Cremers, FP, Tolmachova, T., Lotery, A.J., Barnard, Alun R.   +49 more
core   +1 more source

Novel mutation identified in Leber congenital amaurosis - a case report

BMC Ophthalmology, 2020
Background Leber congenital amaurosis (LCA) is the earliest onset and the most severe form of all inherited retinal degenerative disorders, characterized by blindness, or severe visual impairment from birth, and typically exhibits clinical and genetic ...
Shigeru Sato, Takeshi Morimoto, Sayaka Tanaka, Kikuko Hotta, Takashi Fujikado, Motokazu Tsujikawa, Kohji Nishida   +6 more
doaj   +1 more source

Exudative vasculopathy in a child with Leber congenital amaurosis

, 2014
Leber congenital amaurosis is a severe retinal dystrophy that causes blindness or severe visual impairment, usually before the age of 1 year. We present the case of a 13-year-old girl with Leber congenital amaurosis who developed an exudative ...
Patel, Chirag, Gole, Glen A., Moloney, Thomas P.   +2 more
core   +1 more source

Lentiviral Gene Transfer of Rpe65 Rescues Survival and Function of Cones in a Mouse Model of Leber Congenital Amaurosis

PLoS Medicine, 2006
BackgroundRPE65 is specifically expressed in the retinal pigment epithelium and is essential for the recycling of 11-cis-retinal, the chromophore of rod and cone opsins.
Alexis‐Pierre Bemelmans, Corinne Kostic, Sylvain V. Crippa, William W. Hauswirth, Janis Lem, Francis L. Munier, Mathias W. Seeliger, Andreas Wenzel, Yvan Arsenijévic   +8 more
openalex   +3 more sources

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

fMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis. [PDF]

PLoS ONE, 2014
A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli.
Manzar Ashtari, Laura Cyckowski, Alborz Yazdi, Amanda Viands, Kathleen Marshall, István Bókkon, Albert Maguire, Jean Bennett   +7 more
doaj   +1 more source

Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis [PDF]

, 2003
To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations.; All six exons comprising the open reading frame of
Dryja, Taddeus P., Rivolta, Carlo, Sieving, Paul A., Berson, Eliot L., Ayyagari, Radha   +4 more
core   +1 more source