Research Topics
Species | MICHEALA ANN ALDREDSummaryAffiliation: Cleveland Clinic Foundation Country: USA Publications
Research Grants
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Detail Information
Publications
Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variationLaura E MacConaill
Dana Farber Cancer Institute, Boston, Massachusetts 02116, USA
BMC Genomics 8:211. 2007..In the presence of copy number variability, the individual may theoretically harbor any number of copies of each of the two SNP alleles...- Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8Kylie M Drake
Genomic Medicine Institute, Cleveland Clinic, OH 44195, USA
Am J Respir Crit Care Med 184:1400-8. 2011..We therefore hypothesized that noncanonical pathways may play an important role in PAH... - Somatic chromosome abnormalities in the lungs of patients with pulmonary arterial hypertensionMicheala A Aldred
Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
Am J Respir Crit Care Med 182:1153-60. 2010..Previous studies have indicated that the endothelial cell proliferation is quasineoplastic, with evidence of monoclonality and instability of short DNA microsatellite sequences... 
Genetics of pseudohypoparathyroidism types Ia and IcMicheala A Aldred
Division of Medical Genetics, University of Leicester and Leicestershire Genetics Service, University Hospitals of Leicester NHS Trust, Leicester, UK
J Pediatr Endocrinol Metab 19:635-40. 2006..Screening for whole exon deletions and intronic or regulatory mutations in mutation-negative families is therefore now an important priority to establish the full mutational spectrum in these conditions...- Circulating angiogenic precursors in idiopathic pulmonary arterial hypertensionKewal Asosingh
Cleveland Clinic, Department of Pathobiology, NC22, 9500 Euclid Ave, Cleveland, OH 44195, USA
Am J Pathol 172:615-27. 2008..Thus, mobilization of high levels of proliferative bone marrow-derived proangiogenic precursors is a characteristic of IPAH and may participate in the pulmonary vascular remodeling process... - Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophyMicheala A Aldred
Division of Medical Genetics, University of Leicester, and Department of Molecular Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK
Am J Med Genet 113:167-72. 2002..Parental origin could be determined in both cases and provides further support for the parent-of-origin effect on the biochemical status of patients with AHO... - BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertensionMicheala A Aldred
Division of Medical Genetics, Dept of Genetics, University of Leicester, Leicester, United Kingdom
Hum Mutat 27:212-3. 2006..Dosage analysis should now be considered an integral of part of the molecular work-up of PAH patients... - Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertensionRajiv D Machado
Division of Medical Genetics, Department of Genetics, University of Leicester, Leicester, UK
Circulation 111:607-13. 2005..We hypothesized that in patients with germline mutations, BMPR2 might behave as a classic tumor suppressor gene, with somatic loss of the wild-type allele contributing to disease progression... - Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertensionRajiv D Machado
Division of Medical Genetics, Department of Genetics, University of Leicester, Leicester, United Kingdom
Hum Mutat 27:121-32. 2006.... - Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhoodRachel E Harrison
Division of Medical Genetics, University of Leicester, Leicester, UK
Circulation 111:435-41. 2005..Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1. Presentation in early life may be associated with congenital heart disease but frequently is idiopathic... 
BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasiaChristina M Rigelsky
Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
Am J Med Genet A 146:2551-6. 2008..It adds further weight to a common molecular pathogenesis in PAH and HHT, and highlights that BMPR2 gene analysis is indicated in patients affected with both HHT and PAH...- Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertensionMicheala A Aldred
Division of Medical Genetics, Department of Genetics, University of Leicester, Leicester, United Kingdom
Am J Respir Crit Care Med 176:819-24. 2007..We hypothesized that the apparent shortfall is due to mutations located in the promoter region of the gene, resulting in abnormal gene regulation... - Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testingMicheala A Aldred
Division of Medical Genetics, Adrian Building, University of Leicester, University Road, LE1 7RH, Leicester, UK
Hum Genet 115:428-31. 2004.... - SNP'ing at nasopharyngeal cancer susceptibility: for whom the bell TOLLsMicheala A Aldred
Genomic Medicine Institute, Lerner Research Institute and Taussig Cancer Center, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
Cancer Biol Ther 5:1292-3. 2006 - Human G(salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, a potential cell-specific role of the palmitoylation cycleNoriko Makita
Department of Endocrinology and Nephrology, University of Tokyo School of Medicine, 7 3 1, Hongo, Bunkyo ku, Tokyo 113 8655, Japan
Proc Natl Acad Sci U S A 104:17424-9. 2007..Hence, palmitoylation may control the activity and localization of G(salpha) in a cell-specific manner...
Research Grants
- Germline and Somatic Genetic Changes in Pulmonary Arterial HypertensionMICHEALA ANN ALDRED; Fiscal Year: 2010..The long term aims are to better understand what causes pulmonary hypertension and who is most at risk, in order to refine therapeutic interventions and work towards prevention of the disease. ..