20 results on '"Nathans, Jeremy"'
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2. Extreme Hyperopia Is the Result of Null Mutations in MFRP, Which Encodes a Frizzled-Related Protein
3. A Missense Mutation in the Previously Undescribed Gene Tmhs Underlies Deafness in Hurry-Scurry (hscy) Mice
4. Identifying Photoreceptors in Blind Eyes Caused by RPE65 Mutations: Prerequisite for Human Gene Therapy Success
5. Leber Congenital Amaurosis Linked to AIPL1: A Mouse Model Reveals Destabilization of cGMP Phosphodiesterase
6. Light Exposure Stimulates Formation of A2E Oxiranes in a Mouse Model of Stargardt's Macular Degeneration
7. Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4)
8. RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells
9. Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice
10. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet—Biedl syndrome
11. The Structure of the Harmonin/Sans Complex Reveals an Unexpected Interaction Mode of the Two Usher Syndrome Proteins
12. Cone Photoreceptor Mosaic Disruption Associated with Cys203Arg Mutation in the M-Cone Opsin
13. Epistasis between RET and BBS Mutations Modulates Enteric Innervation and Causes Syndromic Hirschsprung Disease
14. Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa
15. Combinatorial Expression of Brn3 Transcription Factors in Somatosensory Neurons: Genetic and Morphologic Analysis.
16. Frizzled6 controls hair patterning in mice.
17. Genetic mosaic analysis reveals a major role for frizzled 4 and frizzled 8 in controlling ureteric growth in the developing kidney.
18. The spatio-temporal domains of Frizzled6 action in planar polarity control of hair follicle orientation.
19. Canonical WNT signaling components in vascular development and barrier formation.
20. Mutational Analysis of Norrin-Frizzled4 Recognition.
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