Familial Defects of the GH Synthetic Pathway
Shariat N, Ryther RCC, Phillips JA III, Robinson ICAF, Patton JG. Rescue of Pituitary Function in a Mouse Model of Isolated Growth Hormone Deficiency Type II by RNAi. Endocrinology 149: 580-586, 2008.
Hereditable Pulmonary Arterial Hypertension (HPAH)
Phillips JA III, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Dietz HC and Loyd JE. Synergistic heterozygosity for functional TGFβ1 SNPs and BMPR2 mutations modulates the age of diagnosis of Familial Pulmonary Arterial Hypertension (FPAH). Genetics in Medicine 10: 359-365, 2008.
Hamid R, Cogan JD, Hedges LK, Phillips JA III, Newman JH, Loyd JE: Penetrance of Pulmonary Arterial Hypertension is modulated by the expression of normal BMPR2 allele. Human Mutation. First published ahead of print Feb 17, 2009 as doi: 10.1002/humu20922.
Idiopathic Pulmonary Fibrosis (IPF)
Armanios M, Chen J J-L, Cogan JD, Alder J K, Ingersol R G, Markin C, Lawson W E, Xie M, Vulto I, Phillips J A III, Lansdorp P M, Greider CW and Loyd JE: Telomerase Mutations in Families with Idiopathic Pulmonary Fibrosis. New Eng J Med 356: 1317-1326, 2007.
Last Edited: May 7, 2009