Results 31 to 40 of about 35,482 (247)
BMC Medicine, 2021 Background The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines from the American College of Medical Genetics and Genomics (ACMG) have encouraged reporting pathogenic ...
Eden V. Haverfield +24 more
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Overview of Monogenic Forms of Hypertension Combined With Hypokalemia
Frontiers in Pediatrics, 2021 Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare ...
Yi-Ting Lu +8 more
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The genetics of monogenic intestinal epithelial disorders
Human Genetics, 2022 AbstractMonogenic intestinal epithelial disorders, also known as congenital diarrheas and enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that primarily affect intestinal epithelial cell function. Patients with CoDE disorders generally present with infantile-onset diarrhea and poor growth, and often require ...
Stephen J. Babcock +2 more
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Cells, 2021 Lysosomal storage disorders (LSDs) are rare, monogenic diseases characterized by aberrant lysosomes with storage material [...]
Ritva Tikkanen
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Transcription factor defects in inborn errors of immunity with atopy
Frontiers in Allergy, 2023 Transcription factors (TFs) are critical components involved in regulating immune system development, maintenance, and function. Monogenic defects in certain TFs can therefore give rise to inborn errors of immunity (IEIs) with profound clinical ...
Maryam Vaseghi-Shanjani +8 more
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Journal of Korean Thyroid Association, 2012 Monogenic disorder is a single gene disorder resulted of a single mutated gene. Monogenic disorder has benefits in early diagnosis and precious prediction of disease course. Furthermore, monogenic disorder could provide an informative knowledge to the understanding of related pathophysiology.
Sun Wook Cho, Young Joo Park
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Identification of Undetected Monogenic Cardiovascular Disorders
Journal of the American College of Cardiology, 2020 Monogenic diseases are individually rare but collectively common, and are likely underdiagnosed.The purpose of this study was to estimate the prevalence of monogenic cardiovascular diseases (MCVDs) and potentially missed diagnoses in a cardiovascular cohort.Exomes from 8,574 individuals referred for cardiac catheterization were analyzed.
Jawan W, Abdulrahim +14 more
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Emerging Monogenic Complex Hyperkinetic Disorders [PDF]
Current Neurology and Neuroscience Reports, 2017 Hyperkinetic movement disorders can manifest alone or as part of complex phenotypes. In the era of next-generation sequencing (NGS), the list of monogenic complex movement disorders is rapidly growing. This review will explore the main features of these newly identified conditions.Mutations in ADCY5 and PDE10A have been identified as important causes ...
Carecchio M., Mencacci N. E.
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Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China
Frontiers in Genetics, 2021 ObjectivesWhole exome sequencing (WES) has been widely used to detect genetic disorders in critically ill children. Relevant data are lacking in pediatric intensive care units (PICUs) of China.
Yingchao Liu +20 more
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EMBO Molecular Medicine, 2013 The first gene therapy clinical trials were initiated more than two decades ago. In the early days, gene therapy shared the fate of many experimental medicine approaches and was impeded by the occurrence of severe side effects in a few treated patients ...
Kerstin B. Kaufmann +4 more
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