Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH
N Zhu, EM Swietlik, CL Welch, MW Pauciulo… - Genome medicine, 2021 - Springer
Background Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized
by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary …
by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary …
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1
SA O'Shea, RA Hickman, E Cortes… - Movement …, 2021 - Wiley Online Library
Background PLXNA1 encodes for Plexin‐A, a transmembrane protein expressed in the
developing nervous system. Mutations in this gene have been associated with …
developing nervous system. Mutations in this gene have been associated with …
[HTML][HTML] 先天性心脏病相关肺动脉高压致病因素研究进展
艾力， 夏提， 阿地力， 陈铀 - Advances in Clinical Medicine, 2023 - hanspub.org
先天性心脏病相关肺动脉高压(Congenital heart disease-associated pulmonary arterial
hyperten-sion, CHD-PAH) 是心血管发育异常导致肺动脉压力增高的一种疾病 …
hyperten-sion, CHD-PAH) 是心血管发育异常导致肺动脉压力增高的一种疾病 …
[HTML][HTML] Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice …
R Al-Qazazi, IM Emon, F Potus, AY Martin… - medRxiv, 2023 - pmc.ncbi.nlm.nih.gov
Background Mutations are found in 10-20% of idiopathic PAH (IPAH) patients, but none are
consistently identified in connective tissue disease-associated PAH (APAH), which accounts …
consistently identified in connective tissue disease-associated PAH (APAH), which accounts …
Pulmonary hypertension in developing countries: Limiting factors in time to diagnosis, specialised medications and contextualised recommendations
GJ Maarman - African Journal of Thoracic and Critical Care Medicine, 2022 - journals.co.za
Pulmonary hypertension (PH) is a fatal disease with no cure. Combination therapy that
includes several specialised medications can improve survival and quality of life. However …
includes several specialised medications can improve survival and quality of life. However …
[HTML][HTML] Avances en la genética de la hipertensión arterial pulmonar
MB Fontecha, MR Anadón, JA Mazzei… - Insuficiencia …, 2020 - SciELO Argentina
La hipertensiín arterial pulmonar (HAP) es un trastorno cardiopulmonar grave e incurable
que conlleva una importante morbilidad y mortalidad. Se caracteriza por la oclusiín y …
que conlleva una importante morbilidad y mortalidad. Se caracteriza por la oclusiín y …