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Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.
Green fluorescent protein-tagged versions of MBNL, MBLL and MBXL co-localize with nuclear foci in DM1 and DM2 cells, suggesting that all three proteins may play a role in DM pathophysiology.
Practical genetic counselling
Genetic Counselling: the Wider Picture Population Aspects of genetic Counselling and Genetic Screening Genetics and Society Appendix: Useful Information in Connection with Genetic Counselling.
Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales.
A population-based study in south-east Wales identified 135 patients with von Recklinghausen neurofibromatosis and found that the disease is disfiguring but not a major cause of morbidity, and the management of the disease relates to its complications.
The epidemiology of Huntington's disease
It is concluded that most European populations, both Northern and Southern, show a relatively high prevalence of Huntington's disease, and that the disorder may also be frequent in India and parts of central Asia.
Mutations in TITF-1 are associated with benign hereditary chorea.
Evidence is reported that mutations in TITF-1 are associated with BHC, a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and the basal ganglia.
The case against
Huntington's disease
The neurobiology of Huntington's disease, Oliver Quarrell social aspects, Audrey Tyler management and therapy, Michael Morris and Audrey Tyler epidemiology, Peter Harper genetics,Peter Harper linkage and molecular genetics, Duncan Shaw and Sandra Youngman genetic counselling, and Peter Harper and AudreyTyler predictive testing for Huntington's Disease.
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin.
It is found that in Huntington's disease (HD) cortex and caudate, the cellular localization of these proteins is exclusively cytoplasmic whilst in control brain they are localized in the nucleus as well as the cy toplasm; mSin3A immunoreactivity also occurred in a subset of huntingtin positive intranuclear inclusions.