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A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization.
CONTEXT IGF-I/IGF-I receptor (IGF-IR) signaling pathways play important roles in longitudinal growth. A novel Arg481Glu (R481Q) mutation in IGF-IR was detected in a family with intrauterine andExpand
Bidirectional promoters in the transcription of mammalian genomes
In the genomes of humans and other mammals a large number of closely spaced pairs of genes that are transcribed in opposite directions were revealed. Their transcription is directed by so-calledExpand
Evidence for widespread association of mammalian splicing and conserved long-range RNA structures.
Pre-mRNA structure impacts many cellular processes, including splicing in genes associated with disease. The contemporary paradigm of RNA structure prediction is biased toward secondary structuresExpand
Effect of sex hormones on levels of mRNAs coding for proteins involved in lipid metabolism in macrophages
The effects of sex hormones estradiol (E2), testosterone (Te), and 5α-dihydrotestosterone (DT) on cholesterol accumulation induced by modified low density lipoproteins (LDL) in macrophagesExpand
Late Diagnosis of POMC Deficiency and In Vitro Evidence of Residual Translation From Allele With c.-11C>A Mutation
Context: Loss-of-function mutations in the POMC gene are associated with a syndrome with the characteristics of adrenal insufficiency, obesity, and red hair. We describe here a case ofExpand
The structure of the yeast ribosomal RNA genes. I. The complete nucleotide sequence of the 18S ribosomal RNA gene from Saccharomyces cerevisiae.
The cloned 18 S ribosomal RNA gene from Saccharomyces cerevisiae have been sequenced, using the Maxam-Gilbert procedure. From this data the complete sequence of 1789 nucleotides of the 18 S RNA wasExpand
Silencing AML1-ETO gene expression leads to simultaneous activation of both pro-apoptotic and proliferation signaling
The t(8;21)(q22;q22) rearrangement represents the most common chromosomal translocation in acute myeloid leukemia (AML). It results in a transcript encoding for the fusion protein AML1-ETO (AE) withExpand
HLA-DQA1, AB0, and AMEL genotyping of biological material with biochips
A method for genotyping of biological material for AB0, HLA-DQA1, and AMEL loci is described. The method utilizes allele-specific SNP typing with th e help of hydrogel biochip technology. AmplifiedExpand
Identification of ten additional nucleotides in the primary structure of yeast 18S rRNA.
The ten-nucleotide-long sequence have been omitted while sequencing the 18S rRNA gene from yeast Saccharomyces cerevisiae [Rubtsov et al., Nucl. Acids Res. 8 (1980) 5779-5794]. This GAAGAUGAUCExpand
[Genetic engineering of peptide hormones. I. Cloning and primary structure of cDNA of chicken growth hormone].
The cDNA coding for the chicken growth hormone was cloned and sequenced. The 795 base pairs long cDNA insert contains a 5'-untranslated region (35 b.p.), a sequence coding for precursor of growthExpand