Found: 17
Select item for more details and to access through your institution.
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract
- Published in:
- Human Genomics, 2014, v. 8, n. 1, p. 19, doi. 10.1186/s40246-014-0019-6
- By:
- Publication type:
- Article
Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132529
- By:
- Publication type:
- Article
Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104000
- By:
- Publication type:
- Article
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 10, p. 784, doi. 10.1038/sj.ejhg.5201046
- By:
- Publication type:
- Article
Hormonal Control of Carbonic Anhydrase III.
- Published in:
- Annals of the New York Academy of Sciences, 1984, v. 429, n. 1, p. 287, doi. 10.1111/j.1749-6632.1984.tb12352.x
- By:
- Publication type:
- Article
Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.
- Published in:
- G3: Genes | Genomes | Genetics, 2023, v. 13, n. 5, p. 1, doi. 10.1093/g3journal/jkad055
- By:
- Publication type:
- Article
Lens structure in MIP-deficient mice.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2003, v. 273A, n. 2, p. 714, doi. 10.1002/ar.a.10080
- By:
- Publication type:
- Article
Charged multivesicular body protein 4b forms complexes with gap junction proteins during lens fiber cell differentiation.
- Published in:
- FASEB Journal, 2023, v. 37, n. 4, p. 1, doi. 10.1096/fj.202201368RR
- By:
- Publication type:
- Article
Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro‐fibrotic and immune cell responses.
- Published in:
- FASEB Journal, 2021, v. 35, n. 2, p. 1, doi. 10.1096/fj.202002037R
- By:
- Publication type:
- Article
TRPM3_miR-204: a complex locus for eye development and disease.
- Published in:
- Human Genomics, 2020, v. 14, n. 1, p. 1, doi. 10.1186/s40246-020-00258-4
- By:
- Publication type:
- Article
A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 3, p. 257, doi. 10.3390/cells13030257
- By:
- Publication type:
- Article
Autophagy Requirements for Eye Lens Differentiation and Transparency.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 3, p. 475, doi. 10.3390/cells12030475
- By:
- Publication type:
- Article
Mutation of the EPHA2 Tyrosine-Kinase Domain Dysregulates Cell Pattern Formation and Cytoskeletal Gene Expression in the Lens.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 10, p. 2606, doi. 10.3390/cells10102606
- By:
- Publication type:
- Article
Through the Cat-Map Gateway: A Brief History of Cataract Genetics.
- Published in:
- Genes, 2024, v. 15, n. 6, p. 785, doi. 10.3390/genes15060785
- By:
- Publication type:
- Article
A Locus for Autosomal Dominant Posterior Polar Cataract on Chromosome 1p.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 1, p. 47, doi. 10.1093/hmg/6.1.47
- By:
- Publication type:
- Article
A Locus for Autosomal Dominant Anterior Polar Cataract on Chromosome 17p.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 3, p. 415, doi. 10.1093/hmg/5.3.415
- By:
- Publication type:
- Article
Germ-line and somatic EPHA2 coding variants in lens aging and cataract.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189881
- By:
- Publication type:
- Article