(Q28290032)

2

0 references

Hsiao T Yang

3

0 references

Spencer M Vale

4

0 references

Will A Sewell

5

0 references

Christian L Lorson

Emerging treatment options for spinal muscular atrophy.

6

0 references

language of work or name

English

0 references

publication date

15 October 2010

0 references

published in

Human Molecular Genetics

0 references

volume

19

0 references

issue

20

0 references

page(s)

4059-71

0 references

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Temporally regulated and tissue-specific gene manipulations in the adult and embryonic heart using a tamoxifen-inducible Cre protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Congenital heart disease is a feature of severe infantile spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Animal models of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Norepinephrine enhances fibrosis mediated by TGF-beta in cardiac fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Relaxin modulates cardiac fibroblast proliferation, differentiation, and collagen production and reverses cardiac fibrosis in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Cardiac fibrosis in mice lacking brain natriuretic peptide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Oxidative stress triggers cardiac fibrosis in the heart of diabetic rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Oxidative stress mediates cardiac fibrosis by enhancing transforming growth factor-beta1 in hypertensive rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

The expanding network of redox signaling: new observations, complexities, and perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Imbalance between xanthine oxidase and nitric oxide synthase signaling pathways underlies mechanoenergetic uncoupling in the failing heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

NAD(P)H oxidase and uncoupled nitric oxide synthase are major sources of glomerular superoxide in rats with experimental diabetic nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Rosuvastatin, a 3-hydroxy-3-methylglutaryl coenzyme a reductase inhibitor, decreases cardiac oxidative stress and remodeling in Ren2 transgenic rats.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Renin inhibition attenuates insulin resistance, oxidative stress, and pancreatic remodeling in the transgenic Ren2 rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Hypertension, angiotensin II, and oxidative stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Nox2 and Rac1 regulate H2O2-dependent recruitment of TRAF6 to endosomal interleukin-1 receptor complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Method for non-invasively recording electrocardiograms in conscious mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Flattening of the interventricular septum (D-shaped left ventricle) in addition to high right ventricular tracer uptake and increased right ventricular volume found on gated SPECT studies strongly correlates with right ventricular overload

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Molecular characterization of angiotensin II--induced hypertrophy of cardiac myocytes and hyperplasia of cardiac fibroblasts. Critical role of the AT1 receptor subtype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Characterization of angiotensin II receptors in cultured adult rat cardiac fibroblasts. Coupling to signaling systems and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Role of aldosterone and angiotensin II in insulin resistance: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Renin-angiotensin-aldosterone system-mediated redox effects in chronic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

The therapeutic role of RAS blockade in chronic heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Altered focal adhesion regulation correlates with cardiomyopathy in mice expressing constitutively active rac1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Pivotal role of a gp91(phox)-containing NADPH oxidase in angiotensin II-induced cardiac hypertrophy in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Role of the renin-angiotensin-aldosterone system and proinflammatory mediators in cardiovascular disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Role of the renin-angiotensin system in vascular inflammation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Redox signalling involving NADPH oxidase-derived reactive oxygen species

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Endothelin-1-mediated increase in reactive oxygen species and NADPH Oxidase activity in hearts of aryl hydrocarbon receptor (AhR) null mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Reactive oxygen species production via NADPH oxidase mediates TGF-beta-induced cytoskeletal alterations in endothelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Aldosterone mediates angiotensin II-induced interstitial cardiac fibrosis via a Nox2-containing NADPH oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

NADPH oxidase subunits (NOX-1, p22phox, Rac-1) and tacrolimus-induced nephrotoxicity in a rat renal transplant model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

The inflammatory NADPH oxidase enzyme modulates motor neuron degeneration in amyotrophic lateral sclerosis mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Imbalance of angiotensin type 1 receptor and angiotensin II type 2 receptor in the rostral ventrolateral medulla: potential mechanism for sympathetic overactivity in heart failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

AT1 blockade prevents glucose-induced cardiac dysfunction in ventricular myocytes: role of the AT1 receptor and NADPH oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Prehypertensive preconditioning improves adult antihypertensive and cardioprotective treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Effect of renin inhibition and AT1R blockade on myocardial remodeling in the transgenic Ren2 rat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Vascular perfusion abnormalities in infants with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Medical considerations of long-term survival of Werdnig-Hoffmann disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

The mode selection trial (MOST) in sinus node dysfunction: design, rationale, and baseline characteristics of the first 1000 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Dynamic interactions of an intracellular Ca2+ clock and membrane ion channel clock underlie robust initiation and regulation of cardiac pacemaker function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

The emergence of a general theory of the initiation and strength of the heartbeat

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Genesis and regulation of the heart automaticity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Challenges and opportunities in dystrophin-deficient cardiomyopathy gene therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Development of a single vector system that enhances trans-splicing of SMN2 transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329

Quantification of the curvature and shape of the interventricular septum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ329