Laura Southgate
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Explore the profile of Laura Southgate including associated specialties, affiliations and a list of published articles.
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42
Citations
2178
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Recent Articles
1.
Eichstaedt C, Maldonado-Velez G, Machado R, Balachandar S, Coulet F, Day K, et al.
medRxiv
. 2024 Dec;
PMID: 39649591
Purpose: Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by pathogenic variants, most frequently in the bone morphogenetic protein receptor type 2 ( ) gene. We...
2.
Shared and Distinct Genomics of Chronic Thromboembolic Pulmonary Hypertension and Pulmonary Embolism
Liley J, Newnham M, Bleda M, Bunclark K, Auger W, Barbera J, et al.
Am J Respir Crit Care Med
. 2024 Mar;
209(12):1477-1485.
PMID: 38470220
Chronic thromboembolic pulmonary hypertension involves the formation and nonresolution of thrombus, dysregulated inflammation, angiogenesis, and the development of a small-vessel vasculopathy. We aimed to establish the genetic basis of chronic...
3.
Tai Y, Yu Q, Tang Y, Sun W, Kelly N, Okawa S, et al.
Sci Transl Med
. 2024 Jan;
16(729):eadd2029.
PMID: 38198571
Hypoxic reprogramming of vasculature relies on genetic, epigenetic, and metabolic circuitry, but the control points are unknown. In pulmonary arterial hypertension (PAH), a disease driven by hypoxia inducible factor (HIF)-dependent...
4.
Winsvold B, Harder A, Ran C, Chalmer M, Dalmasso M, Ferkingstad E, et al.
Ann Neurol
. 2023 Jul;
94(4):713-726.
PMID: 37486023
Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights. Methods:...
5.
Welch C, Aldred M, Balachandar S, Dooijes D, Eichstaedt C, Graf S, et al.
Genet Med
. 2023 Jul;
25(11):100925.
PMID: 37422716
Purpose: Pulmonary arterial hypertension (PAH) is a rare, progressive vasculopathy with significant cardiopulmonary morbidity and mortality. Genetic testing is currently recommended for adults diagnosed with heritable, idiopathic, anorexigen-, hereditary hemorrhagic...
6.
Taha F, Southgate L
Curr Opin Genet Dev
. 2022 Jun;
75:101936.
PMID: 35772304
Until recently, the molecular aetiology of paediatric pulmonary hypertension (PH) was relatively poorly understood. While the TGF-β/BMP pathway was recognised as central to disease progression, genetic analyses in children were...
7.
Machado R, Southgate L
Genes (Basel)
. 2021 Nov;
12(11).
PMID: 34828405
Pulmonary arterial hypertension (PAH) is a highly heterogeneous disorder with a complex, multifactorial aetiology [...].
8.
Rossi F, Crnjar A, Comitani F, Feliciano R, Jahn L, Malim G, et al.
PLoS One
. 2021 Nov;
16(11):e0254971.
PMID: 34793449
Tree ring features are affected by environmental factors and therefore are the basis for dendrochronological studies to reconstruct past environmental conditions. Oak wood often provides the data for these studies...
9.
Machado R, Welch C, Haimel M, Bleda M, Colglazier E, Coulson J, et al.
J Med Genet
. 2021 Sep;
59(9):906-911.
PMID: 34493544
Background: The molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the gene were recently...
10.
OConnor E, Fourier C, Ran C, Sivakumar P, Liesecke F, Southgate L, et al.
Ann Neurol
. 2021 Jun;
90(2):193-202.
PMID: 34184781
Objective: This study was undertaken to identify susceptibility loci for cluster headache and obtain insights into relevant disease pathways. Methods: We carried out a genome-wide association study, where 852 UK...