Results 221 to 230 of about 133,938 (359)

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

Ddx61-enriched condensates refine heart regeneration programs. [PDF]

Nat Commun
Pronobis MI, DeLuca S, Lee S, Garcia L, Ou J, Bursac N, Poss KD.   +6 more
europepmc   +1 more source

Molecular and Electrophysiological Differences in the L-Type Ca²⁺ Channel of the Atrium and Ventricle of Rat Hearts

, 2006
Seiji Hatano, Takeshi Yamashita, Akiko Sekiguchi, Yu‐ki Iwasaki, Kiyoshi Nakazawa, Koichi Sagara, Hiroyuki Iinuma, Tadanori Aizawa, Long-tai Fu   +8 more
openalex   +2 more sources

Inverse correlation between testosterone and ventricle ejection fraction, hemodynamics and exercise capacity in heart failure patients with erectile dysfunction [PDF]

, 2008
Edimar Alcides Bocchi, Vítor Oliveira Carvalho, Guilherme Veiga Guimarães   +2 more
openalex   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Combined nandrolone and resistance training induced cardiac remodelling and oxidative stress despite enhanced cardiomyocyte contractility. [PDF]

PLoS One
Moraes AA, Suarez PZ, Quintão AEC, Fontes BL, Costa SFF, Rocha CC, Soares LL, Leite LB, Oliveira LL, Reis ECC, Oliveira EM, Forte P, Natali AJ, Carneiro-Júnior MA.   +13 more
europepmc   +1 more source

The Suitability of Discharge Information for Parents of Infants with Single Functioning Ventricle Heart Condition: Evolution of a Congenital Heart Assessment Tool (CHAT) for Parents [PDF]

, 2013
Kerry Gaskin, Amanda Daniels, S. Hutchinson   +2 more
openalex  

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Benznidazole therapy improves pressure overload and cardiac electrical profile in an experimental model of Angiotensin II infusion-induced hypertension: Mechanistic insights. [PDF]

PLoS One
da Silva Pinheiro P, Vilar-Pereira G, Castaño-Barrios L, Peroba Rezende Ramos I, Pedra-Rezende Y, Dantas-Pereira L, Figueiredo Sadok Menna-Barreto R, Gibaldi D, Mata-Santos HA, Lannes-Vieira J.   +9 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source