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Clinical features of the congenital vitreoretinopathies.
Edwards AO. Edwards AO. Eye (Lond). 2008 Oct;22(10):1233-42. doi: 10.1038/eye.2008.38. Epub 2008 Feb 29. Eye (Lond). 2008. PMID: 18309337 Review.
Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13). ...
Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) …
Focus on Kir7.1: physiology and channelopathy.
Kumar M, Pattnaik BR. Kumar M, et al. Channels (Austin). 2014;8(6):488-95. doi: 10.4161/19336950.2014.959809. Channels (Austin). 2014. PMID: 25558901 Free PMC article. Review.
Mutant Kir7.1 channels are associated with inherited eye pathologies such as Snowflake Vitreoretinal Degeneration (SVD) and Lebers Congenital Amaurosis (LCA16). ...
Mutant Kir7.1 channels are associated with inherited eye pathologies such as Snowflake Vitreoretinal Degeneration (SVD) …
The unique structural characteristics of the Kir 7.1 inward rectifier potassium channel: a novel player in energy homeostasis control.
Hernandez CC, Gimenez LE, Dahir NS, Peisley A, Cone RD. Hernandez CC, et al. Am J Physiol Cell Physiol. 2023 Mar 1;324(3):C694-C706. doi: 10.1152/ajpcell.00335.2022. Epub 2023 Jan 30. Am J Physiol Cell Physiol. 2023. PMID: 36717105 Free PMC article. Review.
Accordingly, retinopathy-associated Kir7.1 mutations mapped at the binding site for PIP(2) resulted in channel gating defects leading to channelopathies such as snowflake vitreoretinal degeneration and Leber congenital amaurosis in blind patients. ...
Accordingly, retinopathy-associated Kir7.1 mutations mapped at the binding site for PIP(2) resulted in channel gating defects leading to cha …
Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.
Donoso LA, Edwards AO, Frost AT, Ritter R 3rd, Ahmad N, Vrabec T, Rogers J, Meyer D, Parma S. Donoso LA, et al. Surv Ophthalmol. 2003 Mar-Apr;48(2):191-203. doi: 10.1016/s0039-6257(02)00460-5. Surv Ophthalmol. 2003. PMID: 12686304 Review.
This observation has led to difficulty distinguishing this Stickler phenotype from other hereditary vitreoretinal degenerations, such as Wagner syndrome and Snowflake vitreoretinal degeneration. In this regard, review of the literature indicates type II colla …
This observation has led to difficulty distinguishing this Stickler phenotype from other hereditary vitreoretinal degenerations, such as Wag …