168 results on '"Badano, Jose L."'
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2. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder
3. Studying Human Genetic Variation in Zebrafish
4. List of Contributors
5. A novel form of Deleted in breast cancer 1 (DBC1) lacking the N-terminal domain does not bind SIRT1 and is dynamically regulated in vivo
6. Generation and characterization of Ccdc28b mutant mice links the Bardet-Biedl associated gene with mild social behavioral phenotypes
7. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet—Biedl syndrome
8. Epistasis between RET and BBS Mutations Modulates Enteric Innervation and Causes Syndromic Hirschsprung Disease
9. Generation and characterization ofCcdc28bmutant mice links the Bardet-Biedl associated gene with social behavioral phenotypes
10. Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome
11. Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms
12. The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex
13. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
14. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
15. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
16. Author Correction: Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model
17. The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
18. Dissection of epistasis in oligogenic Bardet-Biedl syndrome
19. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus
20. Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model
21. Life without Centrioles: Cilia in the Spotlight
22. Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B
23. BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1
24. Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
25. Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene--Deletion Syndrome
26. Characterization of primary cilia during the differentiation of retinal ganglion cells in the zebrafish
27. Neuron's little helper: The role of primary cilia in neurogenesis
28. Bardet-Biedl syndrome: Is it only cilia dysfunction?
29. [Correspondence] A manually curated functional annotation of the human X chromosome
30. Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules
31. Basal body proteins regulate Notch signaling via endosomal trafficking
32. Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome
33. Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation
34. Ciliary biology: Understanding the cellular and genetic basis of human ciliopathies
35. Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
36. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
37. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
38. The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
39. The Ciliopathies: An Emerging Class of Human Genetic Disorders
40. Dissection of epistasis in oligogenic Bardet–Biedl syndrome
41. A manually curated functional annotation of the human X chromosome
42. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis
43. The centrosome in human genetic disease
44. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
45. Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
46. The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
47. Beyond Mendel: an evolving view of human genetic disease transmission
48. New Polymorphic Short Tandem Repeats for PCR-based Charcot-Marie-Tooth Disease Type 1A Duplication Diagnosis
49. Haploinsufficiency ofALX4as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome
50. Ribonomic analysis of human DZIP1 reveals its involvement in ribonucleoprotein complexes and stress granules.
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