PubTator4TogoVar  

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PubMed 1472057 Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency. Pit-1 is a pituitary-specific transcription factor that binds to and transactivates promoters of growth hormone and 489 Bytes 2018-06-15 10 0
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PubMed 7683692 A mutation of the glucocorticoid receptor in primary cortisol resistance. The precise molecular abnormalities that cause primary cortisol resistance have not been completely described. In a subject wi 1.43 KB 2018-06-15 11 0
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PubMed 8617766 Ubiquitinylation of transcription factors c-Jun and c-Fos using reconstituted ubiquitinylating enzymes. Recombinant c-Jun and c-Fos were ubiquitinylated by the ubiquitin carrier enzymes E214K, E220K, 1.3 KB 2018-06-15 32 0
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PubMed 9746760 A novel mutation in the coding sequence of the FY*B allele of the Duffy chemokine receptor gene is associated with an altered erythrocyte phenotype. The Duffy blood group system is of clinical and bio 1.72 KB 2018-06-15 11 0
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PubMed 9973373 Cutting edge: dominant effect of Ile50Val variant of the human IL-4 receptor alpha-chain in IgE synthesis. Two variants of the IL-4R alpha-chain (IL-4Ralpha) gene have been recently identified in asso 1.01 KB 2018-06-15 9 0
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PMC 1892049 Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans ITPR1 Deletion Causes Ataxia Abstract We observed a severe autosomal recessive movement disorder in mice used within 32 KB 2025-10-02 12 4
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PubMed 10026181 Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair. The human XPG endonuclease cuts on the 3' side of a DNA lesion during nucleotide exc 1.77 KB 2015-11-20 24 0
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PubMed 10090880 Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. 1.64 KB 2015-11-06 12 0
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PubMed 10090890 Multicentric origin of hemochromatosis gene (HFE) mutations. Genetic hemochromatosis (GH) is believed to be a disease restricted to those of European ancestry. In northwestern Europe, >80% of GH patie 1.51 KB 2015-11-06 11 0
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PubMed 10094552 A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. We have retrospectively analyzed 837 random anonymized dried blood spot (DBS) samples from ne 787 Bytes 2015-11-02 11 0
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