Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome
Author:
Funder
Medical Research Council
Wellcome Trust
Publisher
Elsevier BV
Subject
Nephrology
Reference23 articles.
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2. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis;Pober;Birth Defects Res A Clin Mol Teratol,2009
3. LRP2 acts as SHH clearance receptor to protect the retinal margin from mitogenic stimuli;Christ;Dev Cell,2015
4. LRP2 is an auxiliary SHH receptor required to condition the forebrain ventral midline for inductive signals;Christ;Dev Cell,2012
5. Impaired vitreous composition and retinal pigment epithelium function in the FoxG1::LRP2 myopic mice;Cases;Biochim Biophys Acta Mol Basis Dis,2017
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2. Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia;Frontiers in Genetics;2023-01-27
3. Esotropia, nystagmus and optic disk staphyloma in Donnai-Barrow syndrome;Revista Brasileira de Oftalmologia;2023
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