Results 111 to 120 of about 7,465 (249)

Leber's congenital amaurosis [PDF]

British Journal of Ophthalmology, 1985
openaire   +2 more sources

Unlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of RPE65 Leber congenital amaurosis. [PDF]

Front Med (Lausanne), 2023
Liu Y, Tai J, Yu C, Xu D, Xiao D, Pang J.   +5 more
europepmc   +1 more source

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

, 2007
Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein ...
Mohamed, M.D., Dharmaraj, S., Zonneveld, M.N., Cheetham, M.E., den Hollander, A.I., van der Zwaag, B., Ivings, L., Maumenee, I.H., Cremers, F.P.M., Beer, M. de, Lopez, I., Towns, K.V., Kersten, F.F., Rashid, Y., Beer, M., McKibbin, M., Cremers, F.P., Woods, C.G., Koenekoop, R.K., Arts, H.H., Springell, K., Boldt, K.H.W., Kersten, F.F.J., Beersum, S.E.C. van, Nagel-Wolfrum, K., Boldt, K., Williams, G.A., Wolfrum, U., Roepman, R., Ueffing, M., Strom, T.M., Wijk, E. van, Veltman, J.A., Zwaag, B. van der, Inglehearn, C.F., van Wijk, E., Sedmak, T., Jafri, H., van Beersum, S.E., Gosens, I., Hollander, A.I. den   +40 more
core   +1 more source

A subpopulation of activated retinal macrophages selectively migrated to regions of cone photoreceptor stress, but had limited effect on cone death in a mouse model for type 2 Leber congenital amaurosis

, 2017
Peter H. Tang, Mark Pierson, Neal D. Heuss, Dale S. Gregerson   +3 more
openalex   +1 more source

Author response for "DYNC2H1 variants cause Leber congenital amaurosis without syndromic features"

, 2021
Junwon Lee, Hyunjoo Lee, Young‐Mock Lee, Helen J. Kuht, Mervyn G. Thomas, Sang Jin Kim, Seung‐Tae Lee, Jinu Han   +7 more
openalex   +1 more source

A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility. [PDF]

Doc Ophthalmol, 2023
Sylla MM, Kolesinkova M, da Costa BL, Maumenee IH, Tsang SH, Quinn PMJ.   +5 more
europepmc   +1 more source

Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration and Leber Congenital Amaurosis

, 2014
RD3 is an evolutionarily conserved 23 kDa protein expressed in rod and cone photoreceptor cells. Mutations in the gene encoding RD3 resulting in unstable non-functional C-terminal truncated proteins are responsible for early onset photoreceptor ...
Laurie L. Molday, Thomas eJefferies, Robert S. Molday, Thomas Jefferies, Laurie L Molday   +4 more
core   +1 more source

Leber Congenital Amaurosis [PDF]

, 2020
openaire   +3 more sources

State-of-the-art gene therapy for inherited retinal disorders

Клиническая офтальмология
O.I. Orenburkina1, A.E. Babushkin2 1Russian Center for Eye and Plastic Surgery of the Bashkir State Medical University, Ufa, Russian Federation 2Ufa Research Institute of Eye Diseases of the Bashkir State Medical University, Ufa, Russian ...
O.I. Orenburkina, A.E. Babushkin
doaj  

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

, 2009
Contains fulltext : 79776.pdf (Publisher’s version ) (Open Access)Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children.
Hui Wang, Rui Chen, Lopez, Irma, Yalda Moayedi, Mardon, G., Lopez, I., Yumei Li, Wang, H., Li, Y., Bray, M., Collin, Rob W.J., Hoyng, C.B., Chen, R., Moayedi, Y., Li, Yumei, Abulimiti, Abuduaini, Abulimiti, A., Lupski, J.R., Lupski, James R., Irma Lopez, Koenekoop, R.K., Koenekoop, Robert K., Carel B. Hoyng, Abuduaini Abulimiti, Anneke I. den Hollander, Moayedi, Yalda, Mardon, Graeme, Richard Alan Lewis, Wang, Hui, Chen, Rui, James R. Lupski, Lewis, R.A., Molly Bray, Collin, R.W.J., Robert K. Koenekoop, Rob W.J. Collin, Graeme Mardon, den Hollander, Anneke I., Hoyng, Carel B., Lewis, Richard Alan, Hollander, A.I. den, Bray, Molly   +41 more
core   +1 more source