Physician
Internal Medicine
Dr. Jane E. Hewitt, MD
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Dr. Jane E. Hewitt works in the field of Internal Medicine. She went to medical school at David Geffen School of Medicine at UCLA. David Geffen School of Medicine at UCLA is a one of the best medicals schools. David Geffen School of Medicine at UCLA is ranked 13/7 in Research/PrimaryCare. Jane E. Hewitt is also published. She has 63 publications published. The lastest publication: "Recent amplification of the human FRG1 gene during primate evolution.'
Publications
- Glycoproteomic characterisation of recombinant mouse alpha-dystroglycan.
- Investigating the functions of LARGE: lessons from mutant mice.
- Dystroglycan glycosylation and muscular dystrophy.
- A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments.
- Genes required for functional glycosylation of dystroglycan are conserved in zebrafish.
- Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy.
- Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35.
- Genomic analysis of human chromosome 10q and 4q telomeres suggests a common origin.
- Isolation and characterization of a cDNA encoding porcine gastric haptocorrin.
- The murine urea transporter genes Slc14a1 and Slc14a2 occur in tandem on chromosome 18.
- Glycosylation is not required for ligand or receptor binding by expressed rat intrinsic factor.
- Post-translational modification of {alpha}-dystroglycan is not critical for lymphocytic choriomeningitis virus receptor function in vivo.
- 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.
- An alternatively spliced transcript, p65 delta 2, of the gene encoding the p65 subunit of the transcription factor NF-kappa B.
- Fath, the murine homolog of the Drosophila fat tumor suppressor gene, maps to chromosome 8.
- High-resolution mapping of mouse chromosome 8 identifies an evolutionary chromosomal breakpoint.
- Mapping of the human ribosomal small subunit protein gene RPS24 to the chromosome 10q22-q23 boundary.
- Genetic analysis of glucokinase and the chromosome 20 diabetes susceptibility locus in families with type 2 diabetes.
- Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.
- The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.
- 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...
- Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
- Human gastric intrinsic factor: characterization of cDNA and genomic clones and localization to human chromosome 11.
- Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy.
- Recent amplification of the human FRG1 gene during primate evolution.
- Localization of the cell death genes CPP32 and Mch-2 to human chromosome 4q.
- No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.
- Structure and sequence of the human homeobox gene HOX7.
- Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11.
- Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.
- Cloning of the murine unconventional myosin gene Myo9b and identification of alternative splicing.
- FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients.
- A search for genes in the facioscapulohumeral muscular dystrophy region.
- Intron loss in the SART1 genes of Fugu rubripes and Tetraodon nigroviridis.
- Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.
- A new dosage test for subtelomeric 4;10 translocations improves conventional diagnosis of facioscapulohumeral muscular dystrophy (FSHD).
- Glycosylation defects in inherited muscle disease.
- Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse.
- Identification of a novel beta-tubulin subfamily with one member (TUBB4Q) located near the telomere of chromosome region 4q35.
- FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates.
- FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.
- Molecular analysis of British facioscapulohumeral dystrophy families for 4q DNA rearrangements.
- Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region.
- Pulsed-field gel electrophoresis of the D4F104S1 locus reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions.
- Molecular genetics of facioscapulohumeral muscular dystrophy.
- Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
- De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction betwee...
- The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.
- Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy.
- Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glyco...
- Identification of the autoantigen SART-1 as a candidate gene for the development of atopy.
- Genomic analysis of facioscapulohumeral muscular dystrophy.
- Glycosylation defects: a new mechanism for muscular dystrophy?
- MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brains.
- SF4 and SFRS14, two related putative splicing factors on human chromosome 19p13.11.
- Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
- Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.
- A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy.
- Analysis of allele-specific RNA transcription in FSHD by RNA-DNA FISH in single myonuclei.
- Abnormal glycosylation of dystroglycan in human genetic disease.
- Glycomarkers for muscular dystrophy.
- A family history of DUX4: phylogenetic analysis of DUXA, B, C and Duxbl reveals the ancestral DUX gene.
Doctors Specialties
- Internal Medicine
Accepted Insurances
Education
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University of California San Diego -
David Geffen School of Medicine at UCLA
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