Loss of CRB2 in Müller glial cells modifies a CRB1-associated retinitis pigmentosa phenotype into a Leber congenital amaurosis phenotype
PM Quinn, AA Mulder, C Henrique Alves… - … Molecular Genetics, 2019 - academic.oup.com
… the physiological roles of CRB1 and CRB2 in retinal Müller glial … CRB1 and CRB2 proteins
localized to the subapical region … double homozygous Crb1 KO Crb2 F/F heterozygote for …
localized to the subapical region … double homozygous Crb1 KO Crb2 F/F heterozygote for …
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis
A Albakri, P Pisuchpen, JE Capasso… - … of Medical Genetics …, 2023 - Wiley Online Library
… CRB1 encodes a structural protein in the retinal external limiting … showing the CRB1
mutated region in wild-type, heterozygous and … It is possible that the patient has both disorders. …
mutated region in wild-type, heterozygous and … It is possible that the patient has both disorders. …
CRB1-associated retinal dystrophies in a Belgian cohort: genetic characteristics and long-term clinical follow-up
M Talib, C Van Cauwenbergh, J De Zaeytijd… - British Journal of …, 2022 - bjo.bmj.com
… same papillomacular region. The SD-OCT (I) shows inner … or heterozygous form in seven
unrelated individuals with CRB1-… CRB1 and ABCA4 genes cause Leber congenital amaurosis …
unrelated individuals with CRB1-… CRB1 and ABCA4 genes cause Leber congenital amaurosis …
[HTML][HTML] Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8
… central, optic disc-containing retinal regions of WT, HET/HO, … enhanced by introducing Crb1
heterozygous or homozygous … Instead, our genetic study comparing bi-allelic series of Crb1 …
heterozygous or homozygous … Instead, our genetic study comparing bi-allelic series of Crb1 …
Current perspectives in Leber congenital amaurosis type 8 mouse modeling
A Nahar, SH Cho - Developmental Dynamics, 2022 - Wiley Online Library
… the CRB1 (Crumbs homolog 1) cause rare retinal diseases … These proteins localize to the
subapical region of epithelial cells … Crb1 +/− Crb2 CKO model shows that a Crb1 heterozygote …
subapical region of epithelial cells … Crb1 +/− Crb2 CKO model shows that a Crb1 heterozygote …
Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis
Y Zhou, L Huang, Y Xie, W Liu, S Zhang, L Liu… - Graefe's Archive for …, 2024 - Springer
… atrophy of the outer retinal layer in the macular region, with the … , in which 13 compound
heterozygous variants were found in … in our cohort were identified to carry the CRB1 variants. …
heterozygous variants were found in … in our cohort were identified to carry the CRB1 variants. …
[HTML][HTML] CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials
M Talib, MJ van Schooneveld, J Wijnholds… - American Journal of …, 2022 - Elsevier
… related retinal dystrophies (RDs), including Leber congenital … from the genetic isolate and
in a compound heterozygous manner in … retinal pigment epithelium regions adjacent to retinal …
in a compound heterozygous manner in … retinal pigment epithelium regions adjacent to retinal …
Genetic and clinical profile of retinopathies due to disease-causing variants in leber congenital amaurosis (LCA)-associated genes in a large German cohort
D Zobor, B Brühwiler, E Zrenner, N Weisschuh… - International Journal of …, 2023 - mdpi.com
… CRB1 are the most frequently mutated genes. However, LCA is … spectrum varies by geographic
region and ethnic group. … ) heterozygous for variants in known LCA-associated genes. On …
region and ethnic group. … ) heterozygous for variants in known LCA-associated genes. On …
A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review
W Duan, T Zhou, H Jiang, M Zhang, M Hu… - BMC Medical …, 2022 - Springer
… or compound heterozygous variant in the CRB1 gene (OMIM … corresponding amino acid
changes and regions in recent years. … 4014T>A in CRB1 was related to retinal degeneration and …
changes and regions in recent years. … 4014T>A in CRB1 was related to retinal degeneration and …
Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China
L Zhu, W Ouyang, M Zhang, H Wang, S Li… - … Genetics, 2021 - Taylor & Francis
… CRB1 and RPGRIP1 genes occupied a greater proportion in the western Chinese population.
The proportion of these two genes was similar in other regions of … compound heterozygous …
The proportion of these two genes was similar in other regions of … compound heterozygous …