Science
Scientific articles
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BioGilbert – Biomarker for Patients with Gilbert Disease
Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when old or worn out red blood cells are broken down (hemolysis).
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A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy
Intraflagellar transport (IFT) is vital for the functioning of primary cilia. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, postaxial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. This is the first…
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Biallelic Truncating Mutations in ALPK3
Cardiomyopathies are usually inherited and predominantly affect adults, but they can also present in childhood. Although our understanding of the molecular basis of pediatric cardiomyopathy has improved, the underlying mechanism remains elusive in a substantial proportion of cases.
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BioCyFi – Biomarker for Patients with a Cystic Fibrosis Disease
Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The feature of the disorder…
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A Homozygous Nonsense Variant in IFT52 Is Associated with a Human Skeletal Ciliopathy
Here we report the first human skeletal ciliopathy associated with a nonsense variant in IFT52, encoding an IFT-B core complex protein.
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Pluripotent Stem Cells
Pluripotent stem cells have the ability to undergo self-renewal and to give rise to all cells of the tissues of the body. However, this definition has been recently complicated by the existence of distinct cellular states that display these features.
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Broadening the Phenotypic Spectrum of Pathogenic LARP7 Variants: Two Cases with Intellectual Disability, Variable Growth Retardation and Distinct Facial Features
In 2012 Alazami et al. described a novel syndromic cause of primordial dwarfism with distinct facial features and severe intellectual disability. Our cases broaden the associated clinical features of the syndrome and contribute to the delineation of the phenotypic spectrum of LARP7 mutations.
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A Novel SOX18 Mutation Uncovered in Jordanian Patient with Hypotrichosis-Lymphedema-Telangiectasia Syndrome by Whole Exome Sequencing
The SOX18 gene encodes a transcription factor that plays a notable role in certain developmental contexts such as lymphangiogenesis, hair follicle development and vasculogenesis. SOX18 mutations are linked to recessive and dominant hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). In this…
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BioAlport – Biomarker for Alport Disease
Alport Syndrome is an inherited disease that primarily affects the glomeruli, the tiny tufts of capillaries in the kidneys that filter wastes from the blood. The disease was first described by an English doctor named A. Cecil Alport.
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BioHypophos – Biomarker for Hypophosphatasia Disease
Hypophosphatasia (HPP) is a rare genetic disorder characterized the abnormal devel-opment of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper…