Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension

Eszter N. Tóth, Lucas R. Celant, Marili Niglas, Samara Jansen, Jelco Tramper, Nicoleta Baxan, Ali Ashek, Jeroen N. Wessels, J. Tim Marcus, Lilian J. Meijboom, Arjan C. Houweling, Esther J. Nossent, Jurjan Aman, Julien Grynblat, Frédéric Perros, David Montani, Anton Vonk Noordegraaf, Lan Zhao, Frances S. de Man and Harm Jan Bogaard 2024. Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension. The European Respiratory Journal. 64 (4) 2400442. https://doi.org/10.1183/13993003.00442-2024

TitleDeep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension
TypeJournal article
AuthorsEszter N. Tóth, Lucas R. Celant, Marili Niglas, Samara Jansen, Jelco Tramper, Nicoleta Baxan, Ali Ashek, Jeroen N. Wessels, J. Tim Marcus, Lilian J. Meijboom, Arjan C. Houweling, Esther J. Nossent, Jurjan Aman, Julien Grynblat, Frédéric Perros, David Montani, Anton Vonk Noordegraaf, Lan Zhao, Frances S. de Man and Harm Jan Bogaard
Article number2400442
JournalThe European Respiratory Journal
Journal citation64 (4)
ISSN1399-3003
0903-1936
Year2024
PublisherEuropean Respiratory Society
Publisher's version
License
CC BY-NC 4.0
File Access Level
Open (open metadata and files)
Digital Object Identifier (DOI)https://doi.org/10.1183/13993003.00442-2024
Web address (URL)https://doi.org/10.1183/13993003.00442-2024
Publication dates
PublishedOct 2024

Related outputs

Detecting scoliosis at scale using automated cobb angle analysis in the UK biobank
Niglas, M., Whitcher, B., Amiras, D., Thanaj, M., Basty, N., Bell-Bradford, C., Thomas, E.L. and Bell, J.D. 2026. Detecting scoliosis at scale using automated cobb angle analysis in the UK biobank. European Spine Journal. Advanced online publication. https://doi.org/10.1007/s00586-026-10239-1

Gluteus Maximus Shape Reveals Sex-Specific Associations Between Morphology and Metabolic Dysfunction
Thanaj, M., Whitcher, B., Raza, H,, Bell-Bradford, C., Niglas, M., Bell, J.D., Amiras, D. and Thomas, E.L. 2026. Gluteus Maximus Shape Reveals Sex-Specific Associations Between Morphology and Metabolic Dysfunction. JCSM Communications. 9 (2) e70046. https://doi.org/10.1002/rco2.70046

Heterogeneity, longitudinal decline, and metabolic risk in MRI-based quantification of 20 individual hip and thigh muscles
Whitcher, B., Basty, N., Thanaj, M., Bell-Bradford, C., Niglas, M., Bell, J.D. and Thomas, E.L. 2026. Heterogeneity, longitudinal decline, and metabolic risk in MRI-based quantification of 20 individual hip and thigh muscles. Scientific Reports. Advanced online publication. https://doi.org/10.1038/s41598-026-60437-6

Preprint: Gluteus Maximus Shape Reveals Sex-specific Associations between Morphology and Metabolic Dysfunction
Marjola Thanaj, Brandon Whitcher, Hamzah Raza, Camilo Bradford-Bell, Marili Niglas, Jimmy D Bell, Dimitri Amiras and E Louise Thomas 2026. Preprint: Gluteus Maximus Shape Reveals Sex-specific Associations between Morphology and Metabolic Dysfunction. medRxiv. https://doi.org/10.64898/2026.04.01.26349946

Preprint: Heterogeneity, Longitudinal Decline, and Metabolic Risk in MRI-Based Quantification of 20 Individual Hip and Thigh Muscles
Brandon Whitcher, Hamzah Raza, Nicolas Basty, Marjola Thanaj, Camilo Bell-Bradford, Marili Niglas, Jimmy D Bell, Elizabeth Louise Thomas and Dimitri Amiras 2026. Preprint: Heterogeneity, Longitudinal Decline, and Metabolic Risk in MRI-Based Quantification of 20 Individual Hip and Thigh Muscles. medRxiv. https://doi.org/10.64898/2026.02.25.26347009

Paraspinal muscle quality in chronic low back pain: A systematic review and meta-analysis of muscle atrophy and fat infiltration
Kalli, I., Niglas, M., Naeini, M.K., Freidin, M.B., Thomas, E.L., Menni, C. and Williams, F. 2026. Paraspinal muscle quality in chronic low back pain: A systematic review and meta-analysis of muscle atrophy and fat infiltration. European Spine Journal. 35, pp. 2693-2711. https://doi.org/10.1007/s00586-025-09454-z

Automated volumetric MRI quantification of body fat and skeletal muscle in the UK Biobank: technical validation against expert manual segmentations and comparison with single-slice techniques
Nowak, M., Nunez, L., Hill, C.E., Pagliaro, T., McGonigle, J., Niglas, M., Bell-Bradford, C., Robson, M.D., Thomaides Brears, H., Thomas, E.L. and Bell, J.D. 2026. Automated volumetric MRI quantification of body fat and skeletal muscle in the UK Biobank: technical validation against expert manual segmentations and comparison with single-slice techniques. Abdominal Radiology. 51, pp. 2180-2191. https://doi.org/10.1007/s00261-025-05170-w

Automated Bi‐Ventricular Segmentation and Regional Cardiac Wall Motion Analysis for Rat Models of Pulmonary Hypertension
Marili Niglas, Nicoleta Baxan, Ali Ashek, Lin Zhao, Jinming Duan, Declan O'Regan, Timothy J. W. Dawes, Chen Nien‐Chen, Chongyang Xie, Wenjia Bai and Lan Zhao 2025. Automated Bi‐Ventricular Segmentation and Regional Cardiac Wall Motion Analysis for Rat Models of Pulmonary Hypertension. Pulmonary Circulation. 15 (2) e70092. https://doi.org/10.1002/pul2.70092

Deep phenotyping the right ventricle to establish translational MRI biomarkers for characterization of adaptive and maladaptive states in pulmonary hypertension
Nicoleta Baxan, Lin Zhao, Ali Ashek, Marili Niglas, Dingyi Wang, Fatemeh Khassafi, Farah Sabrin, Olivier Dubois, Chien-Nien Chen, Soni Savai Pullamsetti, Martin Wilkins and Lan Zhao 2024. Deep phenotyping the right ventricle to establish translational MRI biomarkers for characterization of adaptive and maladaptive states in pulmonary hypertension. Scientific Reports. 14 29774. https://doi.org/10.1038/s41598-024-79029-3

Pulmonary Hypertension-Associated Right Ventricular Cardiomyocyte Remodelling Reduces Treprostinil Function
Aleksandra Judina, Marili Niglas, Vladislav Leonov, Nicholas S. Kirkby, Ivan Diakonov, Peter Wright, Lan Zhao, Jane A. Mitchell and Julia Gorelik 2023. Pulmonary Hypertension-Associated Right Ventricular Cardiomyocyte Remodelling Reduces Treprostinil Function. Cells. 12 (23) 2764. https://doi.org/10.3390/cells12232764

Preprint: Automated Cobb Angle Measurement at Scale: Identifying Undiagnosed Scoliosis in the UK Biobank
Marili Niglas, Brandon Whitcher, Marjola Thanaj, Nicolas Basty, Camilo Bell-Bradford, Liliana Szabo, Elizabeth Louise Thomas and Jimmy D Bell 2025. Preprint: Automated Cobb Angle Measurement at Scale: Identifying Undiagnosed Scoliosis in the UK Biobank. medRxiv. https://doi.org/10.1101/2025.03.28.25324832

Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness
Yotam Levy, Jacob A. Ross, Marili Niglas, Vladimir A. Snetkov, Steven Lynham, Chen-Yu Liao, Megan J. Puckelwartz, Yueh-Mei Hsu, Elizabeth M. McNally, Manfred Alsheimer, Stephen D.R. Harridge, Stephen G. Young, Loren G. Fong, Yaiza Español, Carlos Lopez-Otin, Brian K. Kennedy, Dawn A. Lowe and Julien Ochala 2018. Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness. JCI Insight. 3 (19) e120920. https://doi.org/10.1172/jci.insight.120920

Permalink - https://westminsterresearch.westminster.ac.uk/item/wzwq1/deep-phenotyping-of-unaffected-carriers-of-pathogenic-bmpr2-variants-screened-for-pulmonary-arterial-hypertension


Share this

Usage statistics

123 total views
70 total downloads
These values cover views and downloads from WestminsterResearch and are for the period from September 2nd 2018, when this repository was created.