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Biomedical subjects

J E Noble

Publications and source records attributed to J E Noble.

5 recordsLinked to original sources
PubMed2000

Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker.

We observed an analphoid marker chromosome stable through cell division in a 16-year-old girl with developmental delay, short stature, limb contractures, and ovaries containing multiple cysts. She also developed myasthenia gravis at 15 years. The marker chromosome, present in 75% of metaphases (and in 90% of transformed lymphoblastoid cells), was C-band negative, and had no pan alpha-satellite sequences detectable by fluorescence in situ hybridization (FISH). The 8q origin of the marker was determined by use of subtelomeric probes and was confirmed by chromosome 8 painting probes. The marker was shown to be an inversion duplication of 8q when subtelomeric, telomeric, and c-myc FISH probes hybridized to both ends of the marker. The karyotype was 47,XX,+inv dup(8)(qter--> q23.3::q23.3-->[neocen]-->qter), resulting in tetrasomy for 8q23.3qter. The parents had normal karyotypes. Centromeric proteins CENP-C and CENP-E were present, but alpha associated centromere protein CENP-B was absent at a position defining a neocentromere.

Abnormalities, Multiple↗
PubMed1993

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.

Myotonic dystrophy is an autosomally dominant inherited disease in which system-wide abnormalities are caused by a triplet repeat expansion within the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. To determine the effect an expanded repeat region has on DMPK expression, we have separated the chromosome 19 homologues from a 36-year-old woman with myotonic dystrophy into different cell lines by way of somatic cell hybridization. Hybrid DM9101 contains the normal DMPK allele (13 repeats), whereas hybrid DM1115 harbors the mutant allele (approximately 133 repeats). Reverse transcription/polymerase chain reaction (RT/PCR) amplification of coding sequences from the DMPK gene has shown both reduced levels of primary DMPK transcripts and impaired processing of these transcripts in hybrid cell line DM1115. These findings suggest that the presence of a large number of repeats in the 3' untranslated region of the DMPK gene reduces both the synthesis and the processing of DMPK mRNA, resulting in undetectable levels of processed DMPK mRNA from the mutant allele.

Adult↗
PubMed1989

Making performance appraisal work.

There are many facets to the job of employee appraisal. To make each facet as meaningful to the employee as possible may require new approaches. Implementing an appraisal system requiring employee participation through tracking systems will initially demand more of your time, but it can provide you and your employees with a process designed to keep performance on track and progress toward specific developmental goals on target. Once systems are in place and employees are tracking for success, one of your most essential responsibilities may have become an enjoyable process.

Communication↗