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Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.
St Vincent's Hospital, Sydney is a leading tertiary referral hospital and research facility located in Darlinghurst, Sydney. Though funded and integrated into the New South Wales state public health system, it is operated by St Vincent's Health Australia. It is affiliated with the University of Tasmania College of Health and Medicine and the University of New South Wales Medical School.
The Victor Chang Cardiac Research Institute (VCCRI) is an Australian non-profit medical research facility that is dedicated to finding cures for cardiovascular disease. With headquarters located in Darlinghurst, New South Wales, the research hub is home to more than 20 research laboratories and the Victor Chang Cardiac Research Institute Innovation Centre. The institute's mission is "the relief of pain and suffering, and the promotion of well-being, through an understanding of the fundamental mechanisms of cardiovascular disease". Its key research is focused on the prevention and treatment of various heart diseases, including arrhythmia, cardiac arrest, cardiomyopathy, congenital heart disease, heart attack, heart failure, high cholesterol, obesity, spontaneous coronary artery dissection (SCAD) and stroke.
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(HES7) or bHLHb37 is protein coding mammalian gene found on chromosome 17 in humans. HES7 is a member of the Hairy and Enhancer of Split families of Basic helix-loop-helix proteins. The gene product is a transcription factor and is expressed cyclically in the presomitic mesoderm as part of the Notch signalling pathway. HES7 is involved in the segmentation of somites from the presomitic mesoderm in vertebrates. The HES7 gene is self-regulated by a negative feedback loop in which the gene product can bind to its own promoter. This causes the gene to be expressed in an oscillatory manner. The HES7 protein also represses expression of Lunatic Fringe (LFNG) thereby both directly and indirectly regulating the Notch signalling pathway. Mutations in HES7 can result in deformities of the spine, ribs and heart. Spondylocostal dysostosis is a common disease caused by mutations in the HES7 gene. The inheritance pattern of Spondylocostal dysostosis is autosomal recessive.
Richard Paul Harvey is a molecular biologist, the Sir Peter Finley professor of Heart Research at the University of New South Wales and Deputy Director and Head of the Developmental and Stem Cell Biology Division at the Victor Chang Cardiac Research Institute.
Robert Williamson is a retired British-Australian molecular biologist who specialised in the mapping, gene identification, and diagnosis of human genetic disorders.
Kenro Kusumi is a genome biologist and professor, dean of The College of Liberal Arts and Sciences and senior vice provost at Arizona State University.
Robert Michael Graham is an Australian-born clinician-scientist. He is the Des Renford Professor of Medicine at University of New South Wales and the Head of the Molecular Cardiology and Biophysics Division at Victor Chang Cardiac Research Institute.
References
- 1 2 Stewart, Claire (16 July 2015). "Women of influence: How embryologist Sally Dunwoodie wins by 'striving to fail'". Australian Financial Review. Archived from the original on 1 July 2024. Retrieved 1 July 2024.
- 1 2 3 4 "Order of Australia awarded to Institute's Prof Sally Dunwoodie - Victor Chang Cardiac Research Institute". The Victor Chang Cardiac Research Institute. Archived from the original on 1 July 2024. Retrieved 1 July 2024.
- ↑ "Queenwood - Professor Sally Dunwoodie". Queenwood School. Archived from the original on 1 July 2024. Retrieved 1 July 2024.
- 1 2 3 "Professor Sally Dunwoodie - Victor Chang Cardiac Research Institute". The Victor Chang Cardiac Research Institute. Archived from the original on 18 March 2024. Retrieved 1 July 2024.
- ↑ "External Speaker - Professor Sally Dunwoodie". Australian Regenerative Medicine Institute. Archived from the original on 1 July 2024. Retrieved 1 July 2024.
- ↑ "Professor Sally Dunwoodie - AAHMS". Australian Academy of Health and Medical Sciences. 9 October 2019. Archived from the original on 1 July 2024. Retrieved 1 July 2024.
- ↑ "Prof. Sally Dunwoodie - AFR Women of Influence" . Retrieved 1 July 2024.
- ↑ Dunwoodie, Sally L. (December 2009). "The Role of Hypoxia in Development of the Mammalian Embryo". Developmental Cell. 17 (6): 755–773. doi:10.1016/j.devcel.2009.11.008. ISSN 1534-5807. PMID 20059947.
- ↑ Szot, Justin O.; Campagnolo, Carla; Cao, Ye; Iyer, Kavitha R.; Cuny, Hartmut; Drysdale, Thomas; Flores-Daboub, Josue A.; Bi, Weimin; Westerfield, Lauren; Liu, Pengfei; Leung, Tse Ngong; Choy, Kwong Wai; Chapman, Gavin; Xiao, Rui; Siu, Victoria M. (January 2020). "Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders". The American Journal of Human Genetics. 106 (1): 129–136. doi:10.1016/j.ajhg.2019.12.006. ISSN 0002-9297. PMC 7042491 . PMID 31883644.
- ↑ Dunwoodie, Sally L.; Henrique, Domingos; Harrison, Stephen M.; Beddington, Rosa S. P. (15 August 1997). "Mouse Dll3 : a novel divergent Delta gene which may complement the function of other Delta homologues during early pattern formation in the mouse embryo". Development. 124 (16): 3065–3076. doi:10.1242/dev.124.16.3065. ISSN 0950-1991. PMID 9272948.
- ↑ Chapman, Gavin; Sparrow, Duncan B.; Kremmer, Elisabeth; Dunwoodie, Sally L. (7 December 2010). "Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis". Human Molecular Genetics. 20 (5): 905–916. doi:10.1093/hmg/ddq529. ISSN 1460-2083. PMID 21147753.
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