Results 51 to 60 of about 32,199 (295)

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

The Hidden Rhythm: A Rare Case of Isoarrhythmic Sick Sinus Syndrome Defying Chronotropic Expectations

International Journal of Medical Students
Background: Isoarrhythmic sick sinus syndrome (SSS) is a rare and often under-recognized variant of sinus node dysfunction, where the sinus and junctional rates are nearly identical, masquerading as a normal rhythm.
Tooba Fatima Iram, Haroon Abdullah Shaheed, Yusra Fatima Anam, Rahul Kumar Agarwal, Naazira Begum   +4 more
doaj   +1 more source

The Evolution of Sinoatrial Node Function in Man [PDF]

, 1973
The function of the sinoatrial node is complex. In nearly all hearts, this small bit of tissue is responsible for spontaneously generating the impulse which will be distributed to the remainder of the heart, maintaining coordinated electrical and ...
Bigger, J. Thomas, Strauss, Harold C.
core   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

Generation of a patient-specific hiPS cell line with heterozygous GNB2 mutation (UKMi003-A) causative for human sinus node dysfunction and a corresponding CRISPR/Cas9-corrected isogenic control (UKMi004-A)

Stem Cell Research
The heterozygous mutation c.155G > T in GNB2 clinically leads to sinus bradycardia and sinus node dysfunction. Here, patient-specific skin fibroblasts of the mutation carrier were used for Sendai virus reprogramming into human induced-pluripotent stem ...
Anne Kayser, Sven Dittmann, Jassin Hamidi, Sandra D. Laufer, Ramona Krampe, Giulia Mearini, Arne Hansen, Eric Schulze-Bahr   +7 more
doaj   +1 more source

Anesthetizing the Fibrillating Heart. [PDF]

, 2019
See Article Lee et ...
Hanna, Peter, Rajendran, Pradeep S, Shivkumar, Kalyanam, Zhu, Ching   +3 more
core  

The cardiac sodium channel displays differential distribution in the conduction system and transmural heterogeneity in the murine ventricular myocardium [PDF]

, 2009
Cardiac sodium channels are responsible for conduction in the normal and diseased heart. We aimed to investigate regional and transmural distribution of sodium channel expression and function in the myocardium.
A. A. M. Wilde, A. O. Verkerk, B. P. Scicluna, C. A. Remme, C. Annink, C. R. Bezzina, J. M. T. Bakker, M. J. B. den Hoff, M. W. Veldkamp, T. A. B. Veen, V. M. Christoffels, W. M. H. Hoogaars, W. T. J. Aanhaanen   +12 more
core   +3 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho, Alexis E. McFeely, Daniel Skinner, Shaoyan Zhang, Justin Hedvat, Weslee Ping‐ay, Daniel M. Beswick, Justin H. Turner, Bradford A. Woodworth, Jie Xu   +9 more
wiley   +1 more source

SINUS NODE DYSFUNCTION IN CHILDREN [PDF]

Pediatric Research, 1977
Over a three year period, 30 pedlatric patients (pts) with electrocardiographic evidence of sinus node dysfunction (SND) were identified. Their ages ranged from 3 days to 21 years. Twenty-two pts had significant heart disease. In 13, the onset of SND followed corrective cardiac surgery, and of these, 8 were operations for atrial septal defect and ...
Steven M Yabek, Robert E Greenberg
openaire   +1 more source