Results 11 to 20 of about 825,099 (241)
Relating pathogenic loss-of-function mutations in humans to their evolutionary fitness costs
eLife, 2023 Causal loss-of-function (LOF) variants for Mendelian and severe complex diseases are enriched in 'mutation intolerant' genes. We show how such observations can be interpreted in light of a model of mutation-selection balance and use the model to relate ...
Ipsita Agarwal +3 more
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BioMed Research International, 2015 There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng +5 more
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Human and molecular genetics shed lights on fatty liver disease and diabetes conundrum
Endocrinology, Diabetes & Metabolism, 2020 The causal role of abdominal overweight/obesity, insulin resistance and type 2 diabetes (T2D) on the risk of fatty liver disease (FLD) has robustly been proven.
Federica Tavaglione +3 more
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BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype
Molecular Genetics & Genomic Medicine, 2021 Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes.
Marcin Bednarek +16 more
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Frontiers in Cardiovascular Medicine, 2023 Congenital aortic valve stenosis (AVS) is one of the most common valve anomalies and accounts for 3%–6% of cardiac malformations. As congenital AVS is often progressive, many patients, both children and adults, require transcatheter or surgical ...
Jun Yasuhara +8 more
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PLOS Genetics, 2021 Throughout human history, large-scale migrations have facilitated the formation of populations with ancestry from multiple previously separated populations. This process leads to subsequent shuffling of genetic ancestry through recombination, producing variation in ancestry between populations, among individuals in a population, and along the genome ...
Katharine L. Korunes, Amy Goldberg
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Stem Cell Research, 2017 The homeodomain transcription factor Shox2 controls the development and function of the native cardiac pacemaker, the sinoatrial node (SAN). Moreover, SHOX2 mutations have been associated with cardiac arrhythmias in humans.
Sandra Hoffmann +9 more
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Journal of Fungi, 2022 Tinea imbricata is a unique fungal skin disease that mostly affects indigenous populations in Southeast Asia, Oceania, and Central and South America. The control and management of this disease among these communities are challenging given their remote ...
Yi Xian Er +7 more
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Human Genetic Research in Pakistan: Challenges and Way forward
Life and Science, 2021 The 90s ushered in the era of molecular genetics in Pakistan. Our centuries’ old tradition of consanguineous marriages, resulting in the availability of large, inbred families with inherited disorders, proved to be a goldmine for geneticists, working to ...
Syed Muhammad Imran Majeed +1 more
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Genetics of human hydrocephalus [PDF]
Journal of Neurology, 2006 Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired.
Jun Zhang +2 more
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