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Your search keyword '"Choroideremia genetics"' showing total 37 results

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37 results on '"Choroideremia genetics"'

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1. Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.

2. Rab GTPase prenylation hierarchy and its potential role in choroideremia disease.

3. Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants.

4. Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders.

5. A novel mutation (967-970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings.

6. New type of mutations in three spanish families with choroideremia.

7. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

8. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.

9. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.

10. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.

11. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

12. Rapid degradation of dominant-negative Rab27 proteins in vivo precludes their use in transgenic mouse models.

13. Mutational analysis of patients with the diagnosis of choroideremia.

14. Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease.

15. [Clinical and genetic features of choroideremia].

16. REP-1 gene mutations in Japanese patients with choroideremia.

17. No missense mutation in choroideremia patients analyzed to date.

18. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients.

19. A practical diagnostic test for choroideremia.

20. Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.

21. [Update on a diagnostic test for choroideremia: the protein truncation test (PTT)].

22. A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma.

23. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.

24. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

25. Structural insights into the function of the Rab GDI superfamily.

26. Amino- and carboxy-terminal domains of the yeast Rab escort protein are both required for binding of Ypt small G proteins.

27. A highly polymorphic microsatellite marker located within the choroideremia gene.

28. Mutation analysis in Canadian families with choroideremia.

30. A novel mutation (S558X) causing choroideremia.

31. Deficient geranylgeranylation of Ram/Rab27 in choroideremia.

32. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.

33. Cloning and characterization of the human choroideremia gene.

34. Missense mutation in the choroideremia gene.

35. Identification of yeast component A: reconstitution of the geranylgeranyltransferase that modifies Ypt1p and Sec4p.

36. The Saccharomyces cerevisiae MSI4 gene encodes the yeast counterpart of component A of Rab geranylgeranyltransferase.

37. REP-2, a Rab escort protein encoded by the choroideremia-like gene.

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