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Articles

SMAD5 as a novel gene for familial pulmonary arterial hypertension

Open Access
Ding Cao, Ekkehard Grünig, Yuriy Sirenko, Ganna Radchenko, Henning Gall, Ayat Ahmed, Susanne Theiß, Mareike Lankeit, Benjamin Meder, Magdalena Laugsch, Christina A. Eichstaedt
Journal: Clinical Science
Clin Sci (Lond) (2025) 139 (1): 15–27.
https://doi.org/10.1042/CS20241340
Published: 15 January 2025
View articletitled, SMAD5 as a novel gene for familial pulmonary arterial hypertension
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Includes: Supplementary data
Articles

New evidence of vascular defects in neurodegenerative diseases revealed by single cell RNA sequencing

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Jiaying Qiu, Siwan Peng, Ruobing Qu, Liucheng Wu, Lingyan Xing, Luzhong Zhang, Junjie Sun
Journal: Clinical Science
Clin Sci (Lond) (2024) 138 (21): 1377–1394.
https://doi.org/10.1042/CS20241658
Published: 29 October 2024
View articletitled, New evidence of vascular defects in neurodegenerative diseases revealed by single cell RNA sequencing
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Articles

The role of extracellular vesicles in intercellular communication in human reproduction

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In Collection
Reproductive Physiology and Disease
Javier Gonzalez Fernandez, Javier Moncayo Arlandi, Ana Ochando, Carlos Simon, Felipe Vilella
Journal: Clinical Science
Clin Sci (Lond) (2023) 137 (3): 281–301.
https://doi.org/10.1042/CS20220793
Published: 10 February 2023
View articletitled, The role of extracellular vesicles in intercellular communication in human reproduction
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Articles

Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders

Open Access
Britt Hanson, Elizabeth Scotchman, Lyn S. Chitty, Natalie J. Chandler
Journal: Clinical Science
Clin Sci (Lond) (2022) 136 (22): 1615–1629.
https://doi.org/10.1042/CS20210380
Published: 16 November 2022
View articletitled, Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders
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Articles

The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease

Open Access
Adrien Georges, Nabila Bouatia-Naji
Journal: Clinical Science
Clin Sci (Lond) (2022) 136 (16): 1241–1255.
https://doi.org/10.1042/CS20210990
Published: 31 August 2022
View articletitled, The complex genetic basis of fibromuscular dysplasia, a systemic arteriopathy associated with multiple forms of cardiovascular disease
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Articles

Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy

Open Access
David Mas-Ponte, Marcel McCullough, Fran Supek
Journal: Clinical Science
Clin Sci (Lond) (2022) 136 (5): 383–404.
https://doi.org/10.1042/CS20210682
Published: 11 March 2022
View articletitled, Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy
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Includes: Supplementary data
Articles

Sex differences in white adipose tissue expansion: emerging molecular mechanisms

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Simon T. Bond, Anna C. Calkin, Brian G. Drew
Journal: Clinical Science
Clin Sci (Lond) (2021) 135 (24): 2691–2708.
https://doi.org/10.1042/CS20210086
Published: 15 December 2021
View articletitled, Sex differences in white adipose tissue expansion: emerging molecular mechanisms
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Articles

Hemodynamic phenotyping of transgenic rats with ubiquitous expression of an angiotensin-(1-7)-producing fusion protein

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Daniele T. Alves, Luiz Felipe Mendes, Walkyria O. Sampaio, Leda M.C. Coimbra-Campos, Maria Aparecida R. Vieira, Anderson J. Ferreira, Almir S. Martins, Elena Popova, Mihail Todiras, Fatimunnisa Qadri, Natalia Alenina, Michael Bader, Robson A.S. Santos, Maria Jose Campagnole-Santos
Journal: Clinical Science
Clin Sci (Lond) (2021) 135 (18): 2197–2216.
https://doi.org/10.1042/CS20210599
Published: 21 September 2021
View articletitled, Hemodynamic phenotyping of transgenic rats with ubiquitous expression of an angiotensin-(1-7)-producing fusion protein
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Includes: Supplementary data
Articles

Unravelling the tangled web of hypertension and cancer

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In Collection
Cardiovascular-Oncology
Aristeidis Sionakidis, Linsay McCallum, Sandosh Padmanabhan
Journal: Clinical Science
Clin Sci (Lond) (2021) 135 (13): 1609–1625.
https://doi.org/10.1042/CS20200307
Published: 09 July 2021
View articletitled, Unravelling the tangled web of hypertension and cancer
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Articles

Sex diversity in proximal tubule and endothelial gene expression in mice with ischemic acute kidney injury

Open Access
Jose L. Viñas, Christopher J. Porter, Adrianna Douvris, Matthew Spence, Alex Gutsol, Joseph A. Zimpelmann, Karishma Tailor, Pearl A. Campbell, Kevin D. Burns
Journal: Clinical Science
Clin Sci (Lond) (2020) 134 (14): 1887–1909.
https://doi.org/10.1042/CS20200168
Published: 23 July 2020
View articletitled, Sex diversity in proximal tubule and endothelial gene expression in mice with ischemic acute kidney injury
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Includes: Supplementary data
Articles

A novel rare c.-39C>T mutation in the PROS1 5′UTR causing PS deficiency by creating a new upstream translation initiation codon

Open Access
Sylvie Labrouche-Colomer, Omar Soukarieh, Carole Proust, Christine Mouton, Yoann Huguenin, Maguelonne Roux, Céline Besse, Anne Boland, Robert Olaso, Joël Constans, Jean-François Deleuze, Pierre-Emmanuel Morange, Béatrice Jaspard-Vinassa, David-Alexandre Trégouët, on behalf of the GenMed Consortium
Journal: Clinical Science
Clin Sci (Lond) (2020) 134 (10): 1181–1190.
https://doi.org/10.1042/CS20200403
Published: 29 May 2020
View articletitled, A novel rare c.-39C>T mutation in the PROS1 5′UTR causing PS deficiency by creating a new upstream translation initiation codon
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Includes: Supplementary data
Articles

Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5

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Xiaobo Gao, Panpan Zheng, Liping Yang, Haiyan Luo, Chen Zhang, Yongqiang Qiu, Guoying Huang, Wei Sheng, Xu Ma, Cailing Lu
Journal: Clinical Science
Clin Sci (Lond) (2019) 133 (12): 1281–1295.
https://doi.org/10.1042/CS20181024
Published: 17 June 2019
View articletitled, Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5
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Articles

Genomic testing, tumor microenvironment and targeted therapy of Hedgehog-related human cancers

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Masaru Katoh
Journal: Clinical Science
Clin Sci (Lond) (2019) 133 (8): 953–970.
https://doi.org/10.1042/CS20180845
Published: 29 April 2019
View articletitled, Genomic testing, tumor microenvironment and targeted therapy of Hedgehog-related human cancers
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Articles

Recent developments in genetic/genomic medicine

Open Access
Rachel H. Horton, Anneke M. Lucassen
Journal: Clinical Science
Clin Sci (Lond) (2019) 133 (5): 697–708.
https://doi.org/10.1042/CS20180436
Published: 05 March 2019
View articletitled, Recent developments in genetic/genomic medicine
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Articles

Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling

Open Access
Yifang Xie, Anyun Ma, Boshi Wang, Rui Peng, Yingchun Jing, Deqian Wang, Richard H. Finnell, Bin Qiao, Yongming Wang, Hongyan Wang, Yufang Zheng
Journal: Clinical Science
Clin Sci (Lond) (2019) 133 (2): 225–238.
https://doi.org/10.1042/CS20180842
Published: 22 January 2019
View articletitled, Rare mutations of ADAM17 from TOFs induce hypertrophy in human embryonic stem cell-derived cardiomyocytes via HB-EGF signaling
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Includes: Supplementary data
Articles

First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis

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Fu-Jun Lin, Lei Yao, Xue-Qing Hu, Fan Bian, Gang Ji, Geng-Ru Jiang, Daniel P. Gale, Hong-Qi Ren
Journal: Clinical Science
Clin Sci (Lond) (2019) 133 (1): 9–21.
https://doi.org/10.1042/CS20180676
Published: 03 January 2019
View articletitled, First identification of PODXL nonsense mutations in autosomal dominant focal segmental glomerulosclerosis
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Includes: Supplementary data
Articles

The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders

Open Access
Fiona Moghaddas, Seth L. Masters
Journal: Clinical Science
Clin Sci (Lond) (2018) 132 (17): 1901–1924.
https://doi.org/10.1042/CS20171498
Published: 05 September 2018
View articletitled, The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders
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Articles

What do polymorphisms tell us about the mechanisms of COPD?

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Yan Li, Michael H. Cho, Xiaobo Zhou
Journal: Clinical Science
Clin Sci (Lond) (2017) 131 (24): 2847–2863.
https://doi.org/10.1042/CS20160718
Published: 04 December 2017
View articletitled, What do polymorphisms tell us about the mechanisms of COPD?
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Articles

Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family

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Yun Miao, Jun Xiong, Xuelian Zhang, Huajie Huang, Lixin Yu, Jianfan Chen, Wenfeng Deng, Huiling Xu, Rumin Liu, Chenglin Xiang, Xiangmin Xu, Fu Xiong
Journal: Clinical Science
Clin Sci (Lond) (2017) 131 (19): 2427–2438.
https://doi.org/10.1042/CS20170245
Published: 22 September 2017
View articletitled, Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family
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Includes: Supplementary data
Articles

First identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension

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Christina A. Eichstaedt, Jie Song, Rebecca Rodríguez Viales, Zixuan Pan, Nicola Benjamin, Christine Fischer, Marius M. Hoeper, Silvia Ulrich, Katrin Hinderhofer, Ekkehard Grünig
Journal: Clinical Science
Clin Sci (Lond) (2017) 131 (8): 689–698.
https://doi.org/10.1042/CS20160930
Published: 06 April 2017
View articletitled, First identification of Krüppel-like factor 2 mutation in heritable pulmonary arterial hypertension
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Articles

New insights into mechanisms of small vessel disease stroke from genetics

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Rhea Tan, Matthew Traylor, Loes Rutten-Jacobs, Hugh Markus
Journal: Clinical Science
Clin Sci (Lond) (2017) 131 (7): 515–531.
https://doi.org/10.1042/CS20160825
Published: 17 March 2017
View articletitled, New insights into mechanisms of small vessel disease stroke from genetics
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Articles

Perspective on precision medicine in paediatric heart failure

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Michael D. Fridman, Seema Mital
Journal: Clinical Science
Clin Sci (Lond) (2017) 131 (6): 439–448.
https://doi.org/10.1042/CS20160414
Published: 06 March 2017
View articletitled, Perspective on precision medicine in paediatric heart failure
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Articles

En route to precision medicine through the integration of biological sex into pharmacogenomics

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Lea Gaignebet, Georgios Kararigas
Journal: Clinical Science
Clin Sci (Lond) (2017) 131 (4): 329–342.
https://doi.org/10.1042/CS20160379
Published: 03 February 2017
View articletitled, En route to precision medicine through the integration of biological sex into pharmacogenomics
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Articles

Epigenetic control of exercise training-induced cardiac hypertrophy by miR-208

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Ursula Paula Renó Soci, Tiago Fernandes, Valerio Garrone Barauna, Nara Yumi Hashimoto, Gloria de Fátima Alves Mota, Kaleizu Teodoro Rosa, Maria Claudia Irigoyen, Michael Ian Philips, Edilamar Menezes de Oliveira
Journal: Clinical Science
Clin Sci (Lond) (2016) 130 (22): 2005–2015.
https://doi.org/10.1042/CS20160480
Published: 06 October 2016
View articletitled, Epigenetic control of exercise training-induced cardiac hypertrophy by miR-208
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Articles

The importance of gene–environment interactions in human obesity

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Hudson Reddon, Jean-Louis Guéant, David Meyre
Journal: Clinical Science
Clin Sci (Lond) (2016) 130 (18): 1571–1597.
https://doi.org/10.1042/CS20160221
Published: 08 August 2016
View articletitled, The importance of gene–environment interactions in human obesity
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