181 results on '"Hewitt, Jane E."'
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2. A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients
3. Re-evaluation of the Role of Calcium Homeostasis Endoplasmic Reticulum Protein (CHERP) in Cellular Calcium Signaling
4. Abnormal glycosylation of dystroglycan in human genetic disease
5. Evolution of DUX gene macrosatellites in placental mammals
6. Genes required for functional glycosylation of dystroglycan are conserved in zebrafish
7. Dystroglycan glycosylation and muscular dystrophy
8. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
9. FSHD: A Subtelomere-Associated Disease
10. Evolutionary Conservation of a Coding Function for D4Z4, the Tandem DNA Repeat Mutated in Facioscapulohumeral Muscular Dystrophy
11. Investigating the Functions of LARGE: Lessons from Mutant Mice
12. Glycoproteomic characterization of recombinant mouse α-dystroglycan
13. High-resolution mapping of mouse Chromosome 8 identifies an evolutionary chromosomal breakpoint
14. A rapid PCR method for genotyping the Large myd mouse, a model of glycosylation-deficient congenital muscular dystrophy
15. The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8
16. Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: Implications for the origin and evolution of the 3.3 kb repeat family
17. Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies
18. Glycosylation defects: a new mechanism for muscular dystrophy?
19. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Largemyd mouse defines a natural model for glycosylation-deficient muscle – eye – brain disorders
20. Identification of the autoantigen SART-1 as a candidate gene for the development of atopy
21. A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD)
22. A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene
23. Genomic Analysis of Human Chromosome 10q and 4q Telomeres Suggests a Common Origin
24. Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy
25. Fath, the murine homolog of the Drosophila fat tumor suppressor gene, maps to chromosome 8
26. Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy
27. De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic Transchromosomal Repeat Interaction between Chromosomes 4 and 10
28. Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy: Figure 1.
29. Chapter Twenty-One - Investigating the Functions of LARGE: Lessons from Mutant Mice
30. Formation of the Embryonic Organizer Is Restricted by the Competitive Influences of Fgf Signaling and the SoxB1 Transcription Factors
31. Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic Large myd Mouse
32. Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
33. LARGE enzyme activity deciphered: a new therapeutic target for muscular dystrophies
34. Glycomarkers for muscular dystrophy
35. A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene
36. Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei
37. Dystroglycan glycosylation and muscular dystrophy
38. A rapid PCR method for genotyping the Largemyd mouse, a model of glycosylation-deficient congenital muscular dystrophy
39. SF4 and SFRS14, two related putative splicing factors on human chromosome 19p13.11
40. Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35
41. MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brains
42. Intron loss in the SART1 genes of Fugu rubripes and Tetraodon nigroviridis
43. Mutant glycosyltransferase and altered glycosylation of α-dystroglycan in the myodystrophy mouse
44. Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing
45. Recent amplification of the human FRG1 gene during primate evolution
46. FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates
47. A search for genes in the facioscapulohumeral muscular dystrophy region
48. The FSHD-Associated Repeat, D4Z4, Is a Member of a Dispersed Family of Homeobox-Containing Repeats, Subsets of Which Are Clustered on the Short Arms of the Acrocentric Chromosomes
49. Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35
50. Pulsed-Field Gel Electrophoresis of the D4F104S1 Locus Reveals the Size and the Parental Origin of the Facioscapulohumeral Muscular Dystrophy (FSHD)-Associated Deletions
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