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Characterization of reticulocyte release factor.
Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.
- D. Melton, D. Konecki, J. Brennand, C. Caskey
- BiologyProceedings of the National Academy of Sciences…
- 1 April 1984
The wild-type mouse hypoxanthine phosphoribosyltransferase (HPRT; IMP:pyrophosphate phosphoribosyltransferase, EC 22.214.171.124) gene has been isolated from genomic libraries and its structure has been…
Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.
- A. Goltsov, R. Eisensmith, D. Konecki, U. Lichter-Konecki, S. Woo
- BiologyAmerican journal of human genetics
- 1 September 1992
The combined use of this VNTR system and the existing RFLP haplotype system will increase the performance of prenatal diagnostic tests based on haplotype analysis and may prove useful in studies concerning the origins and distributions of PAH mutations in different human populations.
Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate
A candidate gene analysis using 14 extended and multigenerational families segregating ADHD derived from the ‘Paisa’ community of Antioquia, Colombia, a genetic isolate provides further evidence for the association of ADHD to genetic variation in or near to DRD4 and replicate the previously reported association between ADHD and the 7R allele.
Hypoxanthine-guanine phosphoribosyltransferase genes of mouse and Chinese hamster: construction and sequence analysis of cDNA recombinants.
- D. Konecki, J. Brennand, J. Fuscoe, C. Caskey, A. C. Chinault
- BiologyNucleic acids research
- 11 November 1982
Evidence that two species of HPRT mRNA, which differ in the site of polyadenylation that is utilized during processing of the RNA transcripts, exist in Chinese hamster cells is presented.
The primary structure of human secretogranin I (chromogranin B): comparison with chromogranin A reveals homologous terminal domains and a large intervening variable region.
The sequences between the homologous terminal domains in both proteins differ but are characterized by a remarkable hydrophilicity, an abundance of acidic amino acids and potential dibasic cleavage sites for the generation of smaller, perhaps hormone‐like, peptides.
PAHdb 2003: What a locus‐specific knowledgebase can do
The majority (63%) of the putative pathogenic PAH alleles are point mutations causing missense in translation of which few have a primary effect on PAH enzyme kinetics, and most apparently have a secondary effect on its function through misfolding, aggregation, and intracellular degradation of the protein.
Multiple origins for phenylketonuria in Europe.
There were multiple, geographically and ethnically distinct origins for PKU within the European population, with each of these mutations arose through a single founding event that occurred within time periods ranging from several hundred to several thousand years ago.
Alternative splicing in the fragile X gene FMR1.
The FMR1 gene, associated with fragile X syndrome, has recently been cloned and the sequence of partial cDNA clones is known. We have determined additional cDNA sequences both at the 5' and 3' end.…
Structural characterization of the 5' regions of the human phenylalanine hydroxylase gene.
The genomic and cDNA sequences analyzed demonstrated that the human PAH gene has a TATA-less promoter regulated by multiple transcription factors, suggesting that the autosomal-recessive disorder phenylketonuria (PKU) is caused by genetic deficiency of PAH.