243 results on '"Brook, J David"'
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2. Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart
3. Regulation of Toxic RNA Foci and Repeat Expansion DMPK Transcripts: Role of MBNL Proteins and RNA Decay Pathways
4. Myotonic dystrophy
5. Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development
6. Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects
7. Body composition and clinical outcome measures in patients with myotonic dystrophy type 1
8. HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1
9. Transcriptional Abnormality in Myotonic Dystrophy Affects DMPK but not Neighboring Genes
10. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
11. Identification of Genes Regulated by the Antiprogestin, Onapristone, in Breast Cancer Cells using Microarray Analysis
12. Erratum: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease (PLoS Genetics (2021) 17:7 (e1009679) DOI: 10.1371/journal.pgen.1009679)
13. Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
14. The Role of SOX9 in Autosomal Sex Reversal and Campomelic Dysplasia [and Discussion]
15. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
16. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
17. Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts
18. Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease
19. Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
20. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
21. CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model
22. Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles
23. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
24. Stem cell factor (SCF), a novel hematopoietic growth factor and ligand for c-kit tyrosine kinase receptor, maps on human chromosome 12 between 12q14.3 and 12qter
25. Localisation of the myotonic dystrophy locus to 19q13.2–19q13.3 and its relationship to twelve polymorphic loci on 19q
26. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
27. Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy
28. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
29. Detection of a large TBX5 deletion in a family with Holt-Oram syndrome
30. Characterization of the TBX5 binding site and analysis of mutations that cause Holt–Oram syndrome
31. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
32. Unstable DNA sequence in myotonic dystrophy
33. The mutation spectrum in Holt-Oram syndrome
34. Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat
35. DMPK
36. Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions
37. Small molecules which improve pathogenesis of myotonic dystrophy type 1
38. Global Increase in Circular RNA Levels in Myotonic Dystrophy
39. Global increase in circRNA levels in myotonic dystrophy
40. Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot
41. Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy
42. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls
43. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
44. Recent advances in congenital heart disease genomics
45. CORRELATION OF CLINICAL AND MOLECULAR FEATURES IN MYOTONIC DYSTROPHY TYPE 1
46. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20
47. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
48. Long-range restriction map of a region of human chromosome 19 containing the apolipoprotein genes, a CLL-associated translocation breakpoint, and two polymorphic MluI sites
49. Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot
50. Formation, Contraction, and Mechanotransduction of Myofribrils in Cardiac Development: Clues from Genetics
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