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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1016/0167-2584(90)90103-e

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1435-232X

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Amelioration of prolidase deficiency in fibroblast

Authors: Kumiko Ikeda Jun Tohyama Seiichi Tsujino Kahei Sato Takashi Oono Jirô Arata Fumio Endo Norio Sakuragawa
Publish Date: 1997/09
Volume: 42, Issue: 3, Pages: 401-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptProlidase deficiency is an autosomal recessive inherited disease characterized clinically by frequent infections mental retardation and various skin lesions Fundamental treatments for these manifestations have not been established We performed adenovirusmediated gene transfer of human prolidase cDNA into fibroblasts from patients with prolidase deficiency Infection with the adenovirus vector carrying human prolidase cDNA increased prolidase activity in fibroblasts up to approximately 75 times of that of normal control fibroblasts This indicates the feasibility of adenovirusmediated gene therapy to treat patients with prolidase deficiency in the future

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Other Papers In This Journal:
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  2. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
  3. Distal 15q trisomy with Dandy-Walker malformation in a female infant
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  5. G6PD Viangchan (871G>A) is the most common G6PD-deficient variant in the Cambodian population
  6. Mucopolysaccharidosis IVA: A novel splice acceptor site mutation in intron 4 of the N -acetylgalactosamine-6-sulfate sulfatase gene in an afghanistan girl with classical morquio disease
  7. Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence
  8. Isolation of human chromosome 21-specific cosmids and their uses in mapping of cosmid contigs on chromosomal subregions
  9. Novel polymorphism in the 5′-untranslated region of the interleukin-4 gene
  10. A comprehensive method to scan for point mutations of the glucose 6 phosphate dehydrogenase gene
  11. Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non- APOE -ε4 carriers
  12. A linkage disequilibrium at the candidate gene locus for 16q-linked autosomal dominant cerebellar ataxia type III in Japan
  13. The hOGG1 Ser 326 Cys gene polymorphism is associated with decreased insulin sensitivity in subjects with normal glucose tolerance
  14. Concordance and discordance of anencephaly in 109 twin pairs in Japan
  15. Molecular cloning of a novel human gene ( SIRP-B2 ) which encodes a new member of the SIRP/SHPS-1 protein family
  16. Genomic imprinting and its relevance to genetic diseases
  17. No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population
  18. Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid carcinomas in Japan
  19. Subsequent pregnancy outcomes in recurrent miscarriage patients with a paternal or maternal carrier of a structural chromosome rearrangement
  20. Cancer-predisposing genes and chromosome mutation
  21. A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: An autosomal recessive chromosome instability syndrome?
  22. Allele frequencies of single nucleotide polymorphisms (SNPs) in 40 candidate genes for gene-environment studies on cancer: data from population-based Japanese random samples
  23. Analysis of the HLA-DRw9 antigen using two-dimensional gel electrophoresis and alloantisera
  24. High heritability of bone size at the hip and spine in Chinese
  25. Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes
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  27. A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia
  28. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex
  29. Common coding variant in the TCF7L2 gene and study of the association with type 2 diabetes in Japanese subjects
  30. Saliva acid phosphatases and amylase in Senoi and Aboriginal Malays and superoxide dismutase in various racial groups of peninsular Malaysia
  31. High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis
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  33. A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels
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