361 results on '"Naggert, Jürgen K"'
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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. The Impact of Adherens and Tight Junctions on Physiological Function and Pathological Changes in the Retina
7. Translational Vision Research Models Program
8. A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice
9. Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium
10. Genetic Modifiers That Affect Phenotypic Expression of Retinal Diseases
11. Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model
12. Single-cell RNA sequencing reveals molecular features of postnatal maturation in the murine retinal pigment epithelium
13. Mouse Genetic Approaches to Access Pathways Important in Retinal Function
14. Towards Understanding the Function of the Tubby Gene Family in the Retina
15. The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey
16. Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion
17. A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction
18. Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes
19. Lysosomal Trafficking Regulator (LYST)
20. A Chemical Mutagenesis Screen Identifies Mouse Models with ERG Defects
21. Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation
22. Identification of Arhgef12 and Prkci as Genetic Modifiers of Retinal Dysplasia in the Crb1rd8 Mouse Model
23. Alström Syndrome: Mutation Spectrum of ALMS1
24. Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction
25. Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome
26. Deficiency inLystfunction leads to accumulation of secreted proteases and predisposition to mechanic stress-induced retinal detachment
27. Novel Alu retrotransposon insertion leading to Alström syndrome
28. Genetic modifier loci of mouse Mfrprd6 identified by quantitative trait locus analysis
29. Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model.
30. Mapping of genetic modifiers of Nr2e3 rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity
31. The Clinical and Molecular Genetics of Alström Syndrome
32. The progression from obesity to type 2 diabetes in Alström syndrome
33. Gene-environment interaction: a significant diet-dependent obesity locus demonstrated in a congenic segment on mouse Chromosome 7
34. Physiologic and endocrinologic characterization of male sex-biased diabetes in C57BLKS/J mice congenic for the fat mutation at the carboxypeptidease E locus
35. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
36. NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development
37. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
38. RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
39. Caloric Restriction in Alström Syndrome Prevents Hyperinsulinemia
40. New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene
41. Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses
42. A Novel Dwarfism with Gonadal Dysfunction Due to Loss-of-Function Allele of the Collagen Receptor Gene, Ddr2, in the Mouse
43. Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome
44. Spectrum of ALMS1 Variants and Evaluation of Genotype-Phenotype Correlations in Alström Syndrome†
45. Carbonic anhydrase related protein 8 mutation results in aberrant synaptic morphology and excitatory synaptic function in the cerebellum
46. Characterization of the IGF system in 15 patients with Alström syndrome
47. Prohormone Processing and Disorders of Energy Homeostasis
48. Ocular abnormalities in Largemyd and Largevls mice, spontaneous models for muscle, eye, and brain diseases
49. Strain distribution pattern in AXB and BXA recombinant inbred strains for loci on murine Chromosomes 10, 13, 17, and 18
50. Novel Leptin Receptor Mutation in NOD/LtJ Mice Suppresses Type 1 Diabetes Progression: I. Pathophysiological Analysis
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