1-21 of 21
Clin Sci (Lond) (2019) 133 (5): 697-708.
Published: 05 March 2019
...Rachel H. Horton; Anneke M. Lucassen Advances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future...
Christina A. Eichstaedt, Jie Song, Rebecca Rodríguez Viales, Zixuan Pan, Nicola Benjamin, Christine Fischer, Marius M. Hoeper, Silvia Ulrich, Katrin Hinderhofer, Ekkehard Grünig
Clin Sci (Lond) (2017) 131 (8): 689-698.
Published: 06 April 2017
... bone morphogenic protein receptor 2 ( BMPR2 ) gene and/or genes of its signalling pathway in approximately 85% of patients. We clinically and genetically analysed an HPAH family without mutations in previously described pulmonary arterial hypertension (PAH) genes. Clinical assessment included...
Clin Sci (Lond) (2017) 131 (7): 515-531.
Published: 17 March 2017
... extracellular matrix (ECM) function. In addition, genetic studies in ‘sporadic’ SVD have also shown that the disease is highly heritable, particularly among young-onset stroke patients, and that common variants in monogenic disease genes may contribute to disease processes in some SVD subtypes. Genetic studies...
Jie Song, Christina A. Eichstaedt, Rebecca Rodríguez Viales, Nicola Benjamin, Satenik Harutyunova, Christine Fischer, Ekkehard Grünig, Katrin Hinderhofer
Clin Sci (Lond) (2016) 130 (22): 2043-2052.
Published: 11 October 2016
... candidates. We assessed 37 patients with invasively confirmed PAH and five relatives of affected patients for genetic testing. A new PAH-specific gene panel was designed using next generation sequencing (NGS) including 12 known disease genes and 17 further candidates. Any potential pathogenic variants were...
Clin Sci (Lond) (2016) 130 (12): 943-986.
Published: 06 May 2016
... between genetic susceptibility, epigenetics, metagenomics and the environment. Attempts at understanding the genetic basis of obesity have identified numerous genes associated with syndromic monogenic, non-syndromic monogenic, oligogenic and polygenic obesity. The genetics of leanness are also considered...
Klaus Stark, Katharina Neureuther, Kamil Sedlacek, Wibke Hengstenberg, Marcus Fischer, Andrea Baessler, Silke Wiedmann, Andreas Jeron, Stephan Holmer, Jeanette Erdmann, Heribert Schunkert, Christian Hengstenberg
Clin Sci (Lond) (2007) 113 (4): 213-218.
Published: 13 July 2007
...Klaus Stark; Katharina Neureuther; Kamil Sedlacek; Wibke Hengstenberg; Marcus Fischer; Andrea Baessler; Silke Wiedmann; Andreas Jeron; Stephan Holmer; Jeanette Erdmann; Heribert Schunkert; Christian Hengstenberg Recently, the genetic variant Y402H in the CFH (complement factor H) gene was...
Philippa J. Talmud, David M. Flavell, Khaled Alfakih, Jackie A. Cooper, Anthony J. Balmforth, Mohan Sivananthan, Hugh E. Montgomery, Alistair S. Hall, Steve E. Humphries
Clin Sci (Lond) (2007) 112 (12): 617-624.
Published: 14 May 2007
... 1 2007 12 2 2007 12 2 2007 © 2007 The Biochemical Society 2007 coronary heart disease fatty acid genetics hypertrophy hypertension lipoprotein lipase (LPL) LPL S447X variant LVH [LV (left ventricular) hypertrophy] is an independent risk factor for CVD...
Clin Sci (Lond) (2006) 110 (6): 627-639.
Published: 15 May 2006
... discovery of animal models of T1DM in the late 1970s and early 1980s, particularly the NOD (non-obese diabetic) mouse and the BB (BioBreeding) diabetes-prone rat, had a fundamental impact on our ability to understand the genetics, aetiology and pathogenesis of this disease. NOD and BB diabetes-prone rats...
Clin Sci (Lond) (2006) 110 (3): 315-326.
Published: 10 February 2006
... that EH is heritable. Owing to the fact that blood pressure is controlled by cardiac output and total peripheral resistance, many molecular pathways are believed to be involved in the disease. In this review, recent genetic studies investigating the molecular basis of EH, including different molecular...
Kenshi HAYASHI, Masami SHIMIZU, Hidekazu INO, Masato YAMAGUCHI, Hidenobu TERAI, Naoto HOSHI, Haruhiro HIGASHIDA, Nariaki TERASHIMA, Yoshihide UNO, Honin KANAYA, Hiroshi MABUCHI
Clin Sci (Lond) (2004) 107 (2): 175-182.
Published: 27 July 2004
... by genetic analysis. This novel missense mutation is predicted to cause an amino acid substitution of Met 124 →Thr (M124T) in the N-terminus. Three other relatives with this mutation also had QT prolongation and one of them had a prolonged QT interval and torsade de pointes accompanied by syncope...
Amir SNAPIR, Juha KOSKENVUO, Jyri TOIKKA, Marju ORHO-MELANDER, Susanna HINKKA, Markku SARASTE, Jaakko HARTIALA, Mika SCHEININ
Clin Sci (Lond) (2003) 104 (5): 509-520.
Published: 01 May 2003
... genetics in vivo polymorphism 509Clinical Science (2003) 104, 509 520 (Printed in Great Britain) Effects of common polymorphisms in the a1A-, a2B-, b1- and b2-adrenoreceptors on haemodynamic responses to adrenaline Amir SNAPIR*, Juha KOSKENVUO , Jyri TOIKKA , Marju ORHO-MELANDER , Susanna HINKKA...
Paula HEINONEN, Laura JARTTI, Mikko J. JÄRVISALO, Ullamari PESONEN, Jaakko A. KAPRIO, Tapani RÖNNEMAA, Olli T. RAITAKARI, Mika SCHEININ
Clin Sci (Lond) (2002) 103 (5): 517-524.
Published: 23 October 2002
... altered sympathetic activation. Correspondence : Professor Mika Scheinin (e-mail firstname.lastname@example.org ). 15 4 2002 25 7 2002 6 9 2002 The Biochemical Society and the Medical Research Society ©2002 2002 2-adrenergic receptor cardiovascular disease endothelium genetics...
Catherine H. PULLIN, John F. WILSON, Pauline A.L. ASHFIELD-WATT, Zoë E. CLARK, Jenny M. WHITING, Malcolm J. LEWIS, Ian F.W. McDOWELL
Clin Sci (Lond) (2002) 102 (1): 45-50.
Published: 10 December 2001
...Catherine H. PULLIN; John F. WILSON; Pauline A.L. ASHFIELD-WATT; Zoë E. CLARK; Jenny M. WHITING; Malcolm J. LEWIS; Ian F.W. McDOWELL Cardiovascular disease has a multifactorial aetiology that is influenced by both genetic and environmental factors. Endothelial dysfunction is a key event in the...
Norihiro KATO, Takao SUGIYAMA, Hiroyuki MORITA, Toru NABIKA, Hiroki KURIHARA, Yukio YAMORI, Yoshio YAZAKI
Clin Sci (Lond) (2000) 98 (3): 251-258.
Published: 10 February 2000
... relation to hypertension-associated phenotypes, and also should be examined in different ethnic groups. 5 7 1999 1 10 1999 17 11 1999 The Biochemical Society and the Medical Research Society © 2000 2000 association genetics loci polymorphism salt sensitivity 251Clinical...
Clin Sci (Lond) (1999) 96 (3): 221-230.
Published: 01 March 1999
... patients. The onset of overt albuminuria in a patient with diabetes heralds an increased risk of death, particularly from cardiovascular disease. There is considerable evidence to show that nephropathy is influenced by genetic factors. Epidemiological studies show that only a minority of patients with...
Clin Sci (Lond) (1997) 92 (3): 225-235.
Published: 01 March 1997
... nerve deafness. 6. Nuclear gene defects may result in mitochondrial disorders by predisposing to multiple mitochondrial DNA deletions or quantitative depletions of mitochondrial DNA content. © 1997 The Biochemical Society and the Medical Research Society 1997 diabetes genetics mitochondria...
Stephen B. Harrap, Nilesh J. Samani, David Lodwick, J. Michael Connor, Robert Fraser, David L. Davies, Anthony F. Lever, Chris J. W. Foy, Graham C. M. Watt
Clin Sci (Lond) (1995) 88 (6): 665-670.
Published: 01 June 1995
... hypertension is associated with renal haemodynamic abnormalities and increased renal S A gene expression. 2. We studied the distribution of the S A gene alleles ( A1, A2 ), defined by the Pst I polymorphism, in young adults with contrasting predisposition to hypertension to determine whether genetic variation...
Clin Sci (Lond) (1993) 85 (5): 585-591.
Published: 01 November 1993
... role in the pathogenesis of hypertension in the spontaneously hypertensive rat model. 9 2 1993 7 7 1993 © 1993 The Biochemical Society and the Medical Research Society 1993 Ca 2+ -Mg 2+ -ATPase erythrocyte fluorescence polarization anisotropy F 2 generation genetics...
Clin Sci (Lond) (1988) 74 (1): 63-69.
Published: 01 January 1988
...S. B. Harrap; A. E. Doyle 1. To determine the relevance of renal circulatory abnormalities found in the immature spontaneously hypertensive rat (SHR) to the genetic hypertensive process, glomerular filtration rate and renal blood flow were measured in conscious F 2 rats, derived from crossbreeding...
Clin Sci (Lond) (1985) 69 (5): 613-624.
Published: 01 November 1985
... © 1985 The Biochemical Society and the Medical Research Society 1985 erythrocytes genetics hypertension Na + permeability Na + transport Clinical Science (1985) 69, 613-624 613 Na+ leak in erythrocytes from essential hypertensive patients RICARDO P . GARAY A N D CORINNE NAZARET INSERM U7...
Clin Sci Mol Med (1973) 45 (s1): 55s-65s.
Published: 01 August 1973
...Ricardo Cruz-Coke; Hugo Donoso; Radek Barrera 1. A comparative study has been made of a population genetically homogeneous living in two adjacent but strongly different ecosystems. 2. Individuals were ‘marked’ with common serologic major genes. 3. The predominant strength of the environmental...