Janet Perry
A5070677663- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Porphyrin Metabolism and Disorders
- Systemic Lupus Erythematosus Research
- Cell Adhesion Molecules Research
- Acute Myeloid Leukemia Research
- Glioma Diagnosis and Treatment
- Biochemical and Molecular Research
- Cancer Genomics and Diagnostics
- Monoclonal and Polyclonal Antibodies Research
- MicroRNA in disease regulation
- Diet and metabolism studies
- Viral-associated cancers and disorders
- Lymphoma Diagnosis and Treatment
- Circular RNAs in diseases
- Lung Cancer Treatments and Mutations
- Rheumatoid Arthritis Research and Therapies
- Hematological disorders and diagnostics
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Immune Response and Inflammation
- Exercise and Physiological Responses
- Food Quality and Safety Studies
- Aldose Reductase and Taurine
- Systemic Sclerosis and Related Diseases
Hebrew University of Jerusalem
2024
University of Miami Hospital
2024
Truman Medical Center
2019
University of Kansas Medical Center
2019
Wichita State University
2019
University of Kansas
2019
Stowers Institute for Medical Research
2019
Royal Bournemouth Hospital
2013
Heidelberg University
2013
University Hospital Heidelberg
2013
Abstract Protein kinases are frequently mutated in human cancer and inhibitors of mutant protein have proven to be effective anticancer drugs. We screened the coding sequences 518 (∼1.3 Mb DNA per sample) for somatic mutations 26 primary lung neoplasms seven cell lines. One hundred eighty-eight were detected 141 genes. Of these, 35 synonymous (silent) changes. This result indicates that most 188 “passenger” not causally implicated oncogenesis. However, an excess ∼40 nonsynonymous...
Abstract The panel of 60 human cancer cell lines (the NCI-60) assembled by the National Cancer Institute for anticancer drug discovery is a widely used resource. NCI-60 has been characterized pharmacologically and at molecular level more extensively than any other set lines. However, no systematic mutation analysis genes causally implicated in oncogenesis reported. This study reports sequence 24 known an assessment 4 homozygous deletions. One hundred thirty-seven oncogenic mutations were...
Abstract Malignant gliomas have a very poor prognosis. The current standard of care for these cancers consists extended adjuvant treatment with the alkylating agent temozolomide after surgical resection and radiotherapy. Although statistically significant increase in survival has been reported this regimen, nearly all recur become insensitive to further class agents. We sequenced 500 kb genomic DNA corresponding kinase domains 518 protein kinases each nine gliomas. Large numbers somatic...
To assess the efficacy of a single intra-articular injection triamcinolone hexacetonide (THA) in knee osteoarthritis (OA) and examine factors which may relate to treatment efficacy.Eighty four patients with clinical radiographic evidence OA were recruited randomly allocated receive either THA (20 mg 1 ml) or placebo (0.9% normal saline, ml). Follow up assessments evaluated following outcome variables: patient opinion overall change treated knee, visual analogue pain score (VAS), distance...
For decades, cytogenetic studies have demonstrated that somatically acquired structural rearrangements of the genome are a common feature most classes human cancer. However, characteristics these at sequence-level resolution thus far been subject to very limited description. One process is dependent upon somatic rearrangement gene amplification, mechanism often exploited by cancer cells increase copy number and hence expression dominantly acting genes. The mechanisms underlying amplification...
Some controversial aspects of rheumatic heart disease are discussed in the light personal experience Edinburgh.Symptoms not always a reliable guide to severity, and correct time for surgical treatment should be based on an objective assessment.Dangers delay include progressive damage pulmonary circulation, lungs, right ventricle, liver, risks systemic embolism, oedema, infarction.The New York Heart Association classification disability is unreliable potentially dangerous guide.The concepts...
S ummary . Oral administration of folate compounds was followed by a rise in L. casei active factors blood. This due to reduction and methylation the small gut this demonstrated use dihydropteroylglutamic acid labelled with tritium. Parenteral tritium‐labelled analogues rapid exchange unlabelled from tissues.
Vigabatrin is an antiepileptic drug that, although relatively well tolerated, associated with visual field constriction and other disturbances of unclear origin.We performed a complete neuroophthalmologic examination electrophysiologic studies on 39 patients receiving vigabatrin 11 control patients.Nearly 50% had constricted fields compared patients. Some the also reduced acuity abnormal color vision. In addition, most electroretinographic results, severity which correlated strongly degree...
We previously described demyelination in the brain and subacute combined degeneration of spinal cord a patient with 5,10-methylenetetrahydrofolate reductase deficiency. To assess role methionine, S-adenosylmethionine, folate, neurotransmitter amine metabolism process, we measured these metabolites CSF from this patient; findings are compared those obtained three patients whom neurologic deterioration had been halted by administration betaine. Folate concentrations were low, biopterin...
Exposure of rats to a 50% N2O/oxygen mixture led rapid loss methionine synthase activity in both liver and brain. This enzyme has vitamin B12 as cofactor. There was impaired conversion deoxyuridine deoxythymidine by bone marrow cells this defect followed activity. no homocystinuria. Withdrawal N2O relatively slow recovery over four days. The inactivation promises be valuable tool the study metabolism.
Abstract The protein kinase gene family is the most frequently mutated in human cancer. Previous work has documented activating mutations KIT receptor tyrosine testicular germ‐cell tumors (TGCT). To investigate further potential role of kinases development TGCT and to characterize prevalence patterns point these tumors, we have sequenced coding exons splice junctions annotated 518 genes a series seven seminomas six nonseminomas. Our results show remarkably low mutation frequency, with only...
Summary We have previously demonstrated haploinsufficiency of the ribosomal gene RPS14 , which is required for maturation 40S subunits and maps to commonly deleted region, in 5q− syndrome. Patients with Diamond‐Blackfan anaemia (DBA) show closely related protein RPS19, a consequent downregulation multiple ribosomal‐ translation‐related genes. By analogy DBA, we investigated expression profiles large group genes CD34 + cells 15 myelodysplastic syndrome (MDS) patients syndrome, 18 MDS...