Results 51 to 60 of about 27,486 (234)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy

Stem Cell Research
Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells ...
Jingxian Li, Jinxiu Jiang, Lingqun Ye, Zhipeng Lian, Hui Gong, Wei Lei, Yuxiang Dai, Shijun Hu   +7 more
doaj   +1 more source

Restrictive cardiomyopathy. Presentation of seven cases

Acta Pediátrica de México, 2014
Restrictive cardiomyopathy is a disease characterized by diastolic ventricular failure with increase in telediastolic pressure and systolic function preserved.
Luis Alfonso Fonseca Sánchez, Laura Camacho Reyes, Alfredo Bobadilla Aguirre   +2 more
doaj   +1 more source

Multiple species comparison of cardiac troponin T and dystrophin: unravelling the DNA behind dilated cardiomyopathy [PDF]

, 2017
Animals have frequently been used as models for human disorders and mutations. Following advances in genetic testing and treatment options, and the decreasing cost of these technologies in the clinic, mutations in both companion and commercial animals ...
Braunwald, Cooper, Cooper, Greaser, Innes, Jachymova, Jaquet, Kolb, Kunkel, Laing, Lin, Lu, Mandel, Manole, Maron, Muntoni, Pearlstone, Pearlstone, Pion, Pion, Schatzberg, Tidholm, Valentine, Wexler, Wieczorek   +24 more
core   +2 more sources

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

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source

Tuberculous Constrictive Pericarditis [PDF]

, 2015
Introduction: Constrictive pericarditis is characterized by constriction of the heart secondary to pericardial inflammation. Cardiovascular magnetic resonance (CMR) imaging is useful imaging modality for addressing the challenges of confirming this ...
Ali, Aamir, Alpendurada, Francisco, Prasad, Sanjay, Raphael, Claire E, Tse, Gary, Vassiliou, Vassilios   +5 more
core   +1 more source

Cytokine pathways driving diverse tissue pathologies in rheumatoid arthritis

Arthritis &Rheumatology, Accepted Article.
Rheumatoid arthritis is a complex systemic disorder characterised primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease e.g. of the lung with potentially devastating clinical consequences.
Aurelie Najm, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3 [PDF]

, 2018
Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by degeneration of myofibrils and aggregation of proteins in striated muscle.
Acker, T, Akintürk, H, Garvalov, BK, Gräf, S, Gulatz, L, Hahn, A, Jux, C, Mazhari, N, Rupp, S, Schänzer, A, Van Coster, Rudy, Zengeler, D   +11 more
core   +2 more sources