389 results on '"Naggert, Jürgen"'
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2. A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects
3. Lysosomal Trafficking Regulator (LYST)
4. Molecular Characterization of TUB, TULP1, and TULP2, Members of the Novel Tubby Gene Family and their Possible Relation to Ocular Diseases
5. Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome
6. Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration
7. The Impact of Adherens and Tight Junctions on Physiological Function and Pathological Changes in the Retina
8. A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice
9. Translational Vision Research Models Program
10. Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium
11. Genetic Modifiers That Affect Phenotypic Expression of Retinal Diseases
12. Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model
13. Single-cell RNA sequencing reveals molecular features of postnatal maturation in the murine retinal pigment epithelium
14. Mouse Genetic Approaches to Access Pathways Important in Retinal Function
15. Towards Understanding the Function of the Tubby Gene Family in the Retina
16. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
17. Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion
18. A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction
19. Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes
20. Lysosomal Trafficking Regulator (LYST)
21. A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects
22. Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation
23. Identification of Arhgef12 and Prkci as Genetic Modifiers of Retinal Dysplasia in the Crb1rd8 Mouse Model
24. Deficiency inLystfunction leads to accumulation of secreted proteases and predisposition to mechanic stress-induced retinal detachment
25. Alström Syndrome: Mutation Spectrum of ALMS1
26. Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction
27. Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome
28. Novel Alu retrotransposon insertion leading to Alström syndrome
29. Genetic modifier loci of mouse Mfrprd6 identified by quantitative trait locus analysis
30. Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.
31. Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity
32. The Clinical and Molecular Genetics of Alström Syndrome
33. The progression from obesity to type 2 diabetes in Alström syndrome
34. Gene-environment interaction: a significant diet-dependent obesity locus demonstrated in a congenic segment on mouse Chromosome 7
35. Physiologic and endocrinologic characterization of male sex-biased diabetes in C57BLKS/J mice congenic for the fat mutation at the carboxypeptidease E locus
36. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
37. Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity
38. NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development
39. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
40. RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
41. Caloric Restriction in Alström Syndrome Prevents Hyperinsulinemia
42. New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene
43. Genetic Modifiers in Rodent Models of Obesity
44. Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses
45. A Novel Dwarfism with Gonadal Dysfunction Due to Loss-of-Function Allele of the Collagen Receptor Gene, Ddr2, in the Mouse
46. Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome
47. Spectrum of ALMS1 Variants and Evaluation of Genotype-Phenotype Correlations in Alström Syndrome†
48. Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum
49. Characterization of the IGF system in 15 patients with Alström syndrome
50. Prohormone Processing and Disorders of Energy Homeostasis
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