A5041298828- Amyloidosis: Diagnosis, Treatment, Outcomes
- Pancreatitis Pathology and Treatment
- Genomic variations and chromosomal abnormalities
- Innovations in Medical Education
- Drug Transport and Resistance Mechanisms
- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- Trace Elements in Health
- Amino Acid Enzymes and Metabolism
- Fetal and Pediatric Neurological Disorders
- Congenital Heart Disease Studies
- Congenital limb and hand anomalies
- Hemispheric Asymmetry in Neuroscience
- Liver Disease Diagnosis and Treatment
- Congenital Anomalies and Fetal Surgery
- Healthcare Quality and Management
- Porphyrin Metabolism and Disorders
- Acute Myeloid Leukemia Research
- Global Health Workforce Issues
- Alzheimer's disease research and treatments
- Connective tissue disorders research
- Genetic and rare skin diseases.
- Congenital heart defects research
- RNA regulation and disease
- Clinical Reasoning and Diagnostic Skills
Macquarie University
2017-2020
Harvard University
1983-2008
The University of Sydney
1981-2008
UNSW Sydney
1998-2008
Columbia University
2006
Columbia University Irving Medical Center
2005
Mallinckrodt (United States)
1988-1997
St. Louis Children's Hospital
1993-1997
Medical Genetics Center
1997
Washington University in St. Louis
1986-1996
Missense germ-line mutations in the RET protooncogene are associated with multiple endocrine neoplasia type 2A (MEN 2A). Detection of these mutant alleles kindred members predicts disease inheritance and provides basis for preventative thyroidectomy.A polymerase chain reaction (PCR)-based genetic test 19 known was designed to study 132 7 kindreds MEN 2A. Haplotypes also were constructed using markers flanking locus. Plasma calcitonin (CT) concentrations determined before after provocative...
An innovative medical curriculum at the University of New South Wales (UNSW) has been developed through a highly collaborative process aimed building faculty ownership and ongoing sustainability. The result is novel capability-based program that features early clinical experience small-group teaching, which offers students considerable flexibility achieves high degree alignment between graduate outcomes, learning activities assessments. Graduate capabilities focus student on generic outcomes...
Complementary DNA clones corresponding to the human serum amyloid P component (SAP) were isolated, and complete nucleotide derived amino acid sequence of preSAP was determined.PreSAP biosynthesis is directed by a 1.1-kilobase mRNA.Synthesis postsynthetic processing in Xenopus oocytes result secretion protein with mobility similar native purified SAP when analyzed sodium dodecyl sulfate gel electrophoresis.The gene on chromosome 1, probably closely linked for C-reactive which encodes related...
ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTExpression and sequence analyses of serum amyloid A in the Syrian hamsterC. F. Webb, P. W. Tucker, S. B. DowtonCite this: Biochemistry 1989, 28, 11, 4785–4790Publication Date (Print):May 30, 1989Publication History Published online1 May 2002Published inissue 30 1989https://doi.org/10.1021/bi00437a040Request reuse permissionsArticle Views46Altmetric-Citations35LEARN ABOUT THESE METRICSArticle Views are COUNTER-compliant sum full text article...
The concentration in plasma of the female protein (FP) golden Syrian hamster is regulated by sex steroids and mediators acute-phase response to tissue injury or inflammation. A complementary DNA (cDNA) clone corresponding FP was isolated from a liver cDNA library used determine nucleotide sequence derived amino acid native FP. primary 69 percent identical human serum amyloid P component 50 C-reactive protein. Evidence showed that sex-limited control gene pretranslational. thus useful model...
Abstract Phenylketonuria (PKU) is a genetic disorder of amino acid metabolism that associated with brain catecholamine depletion and deficient myelination. Although neuropsychological deficits have been documented in children early-treated PKU (ETPKU), no study to date has examined possible effects impaired myelination this population. In the present study, interhemispheric transfer time was assessed for 14 ETPKU, 22 attention deficit-hyperactivity disorder, 48 normal children, using manual...
Despite leadership roles being critical, we persist with outmoded models of organisations and pay inadequate attention to developing individual leaders new within the medical profession. New forms are required. Among many important roles, called on: ➢ enhance meaningful identity a profession; create effective linkages other healthcare professionals stakeholders, as well system managers; interpret complexity so that their institutions followers can operate successfully in uncertain times;...
Abstract We have characterized a 6‐generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD‐2). demonstrate linkage to the 7q36 region and describe submicroscopic telomeric chromosomal deletion in phase with PPD‐2 phenotype. Recently, several kindreds triphalangeal thumb (TPT) without associated hand anomalies (syndactyly and/or postaxial polydactyly) also been linked subtelomeric chromosome 7q [Heutink et al., 1994: Nat Genet 6:287–291; Tsukurov...
The nucleotide sequences of two mink serum amyloid A (SAA) cDNA clones have been analyzed, one (SAA1) 776 base pairs long and the other (SAA2) 552 long. Significant differences were discovered when derived amino acid compared with data for apoSAA isolated from high density lipoprotein. Previous studies protein SAA (AA) suggest that only isotype is amyloidogenic. clone SAA2 defines prone while SAA1 found in serum. Mink has alanine position 10, isoleucine positions 24, 67, 71, lysine 27,...
The expression of serum amyloid A (SAA) protein, a major acute-phase reactant in most species, was examined by situ hybridization multiple organs rabbit, mink and mouse. In livers unstimulated mice rabbits heterogeneous pattern SAA hepatocytes observed. all three lipopolysaccharide (LPS) administration resulted extensive uniform probes to the rabbit transcripts were detected cells white pulp spleen, adrenal cortex ovary as well mucosa lymphatic vessels small intestine. Examination...