Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal …

DC Rubinsztein, J Leggo, R Coles… - American journal of …, 1996 - ncbi.nlm.nih.gov
Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease (HD).
In the diagnostic setting it is necessary to define the limits of the CAG size ranges on normal …

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

RG Snell, JC MacMillan, JP Cheadle, I Fenton… - Nature …, 1993 - nature.com
The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene
in 440 Huntington's disease patients and 360 normal controls reveals a range of 30–70 …

PAK3 mutation in nonsyndromic X-linked mental retardation

KM Allen, JG Gleeson, S Bagrodia, MW Partington… - Nature …, 1998 - nature.com
Nonsyndromic X-linked mental retardation (MRX) syndromes are clinically homogeneous
but genetically heterogeneous disorders, whose genetic bases are largely unknown …

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

HG Harley, SA Rundle, JC MacMillan… - American journal of …, 1993 - ncbi.nlm.nih.gov
A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from
101 kindreds, has shown that the size of the unstable CTG repeat detected in nearly all …

Comparative Expression of the Mitotic Regulators SAK and PLK in Colorectal Cancer

JC Macmillan, JW Hudson, S Bull, JW Dennis… - Annals of surgical …, 2001 - Springer
Background: Disruption of normal mechanisms for cell cycle regulation is important in
carcinogenesis. SAK and PLK are members of the polo family of serine threonine kinases …

[HTML][HTML] Late mitotic failure in mice lacking Sak, a polo-like kinase

JW Hudson, A Kozarova, P Cheung, JC Macmillan… - Current Biology, 2001 - cell.com
Polo-like kinases in yeast, flies, and mammals regulate key events in mitosis. Such events
include spindle formation at G2/M, the anaphase-promoting complex (APC) at the exit from …

Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees

MW Becher, DC Rubinsztein, J Leggo… - … : official journal of the …, 1997 - Wiley Online Library
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder that
clinically overlaps with Huntington's disease (HD) and manifests combinations of chorea …

Clinical and genetic study of Friedreich ataxia in an Australian population

MB Delatycki, DBBP Paris… - American journal of …, 1999 - Wiley Online Library
Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene
that encodes a 210‐amino acid protein called frataxin. An expansion of a GAA trinucleotide …

α2HS-glycoprotein, an Antagonist of Transforming Growth Factor β In vivo, Inhibits Intestinal Tumor Progression

CJ Swallow, EA Partridge, JC Macmillan, T Tajirian… - Cancer research, 2004 - AACR
Transforming growth factor (TGF)-β1 is associated with tumor progression and resistance to
chemotherapy in established cancers, as well as host immune suppression. Here, we show …

Clinical spectrum of septic pulmonary embolism and infarction

JC MacMillan, SH Milstein, PC Samson - The Journal of Thoracic and …, 1978 - Elsevier
Management of septic pulmonary embolism now suggests a predictability of the clinical
course which often allows an early decision regarding the need for definitive thoracotomy …