Genetics and genomics of pulmonary arterial hypertension

NW Morrell, MA Aldred, WK Chung… - European …, 2019 - Eur Respiratory Soc
Since 2000 there have been major advances in our understanding of the genetic and
genomics of pulmonary arterial hypertension (PAH), although there remains much to …

Genetic basis of pulmonary arterial hypertension: current understanding and future directions

JH Newman, RC Trembath, JA Morse, E Grunig… - Journal of the American …, 2004 - jacc.org
Mutations in two receptors of the transforming growth factor-beta family have recently been
shown to be present in the majority of cases of inherited (familial) pulmonary arterial …

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura

GG Levy, WC Nichols, EC Lian, T Foroud… - Nature, 2001 - nature.com
Thrombotic thrombocytopenic purpura (TTP) is a life-threatening systemic illness of abrupt
onset and unknown cause. Proteolysis of the blood-clotting protein von Willebrand factor …

Heterozygous germline mutations in BMPR2, encoding a TGF-β receptor, cause familial primary pulmonary hypertension

KB Lane, RD Machado, MW Pauciulo, JR Thomson… - Nature …, 2000 - nature.com
Primary pulmonary hypertension (PPH), characterized by obstruction of pre-capillary
pulmonary arteries, leads to sustained elevation of pulmonary arterial pressure (mean> 25 …

von Willebrand disease

WC Nichols, D Ginsburg - Medicine, 1997 - journals.lww.com
|| Page 1 || 00257974977601-0001S0300/0 MEDICINE Copyright C 1997 by Williams & Wilkins
Vol. 76, No. 1 Printed in USA Reviews _ in Molecular Medicine _ von Willebrand Disease …

[HTML][HTML] Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia

RC Trembath, JR Thomson, RD Machado… - … England Journal of …, 2001 - Mass Medical Soc
Background Most patients with familial primary pulmonary hypertension have defects in the
gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming …

Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-β family

JR Thomson, RD Machado, MW Pauciulo… - Journal of medical …, 2000 - jmg.bmj.com
BACKGROUND Primary pulmonary hypertension (PPH), resulting from occlusion of small
pulmonary arteries, is a devastating condition. Mutations of the bone morphogenetic protein …

[PDF][PDF] BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension

RD Machado, MW Pauciulo, JR Thomson… - The American Journal of …, 2001 - cell.com
Primary pulmonary hypertension (PPH) is a potentially lethal disorder, because the
elevation of the pulmonary arterial pressure may result in right-heart failure. Histologically …

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

WC Nichols, N Pankratz, D Hernandez, C Paisán-Ruíz… - The Lancet, 2005 - thelancet.com
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal
dominant Parkinson's disease. We measured the frequency of a novel mutation …

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

N Pankratz, JB Wilk, JC Latourelle, AL DeStefano… - Human genetics, 2009 - Springer
Five genes have been identified that contribute to Mendelian forms of Parkinson disease
(PD); however, mutations have been found in fewer than 5% of patients, suggesting that …