Primary hypertrophic osteoarthropathy: genetics, clinical features and management. [PDF]
Front Endocrinol (Lausanne), 2023 Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 ...
Lu Q, Xu Y, Zhang Z, Li S, Zhang Z.
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Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. [PDF]
Appl Clin Genet, 2023 Sturge-Weber syndrome (SWS) is a congenital, sporadic, and rare neurocutaneous disorder, characterized by the presence of a facial port-wine birthmark (PWB), glaucoma, and neurological manifestations including leptomeningeal angiomatosis and seizures. It
Sánchez-Espino LF +3 more
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CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. [PDF]
Am J Ophthalmol, 2023 PURPOSE To analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies. DESIGN Multicenter international retrospective cohort study.
Daich Varela M +11 more
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Treacher Collins Syndrome: Genetics, Clinical Features and Management. [PDF]
Genes (Basel), 2021 Treacher Collins syndrome (TCS) is associated with abnormal differentiation of the first and second pharyngeal arches, occurring during fetal development.
Marszałek-Kruk BA +3 more
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Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. [PDF]
Mol Genet Metab, 2019 Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway.
Balwani M.
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Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. [PDF]
J Endocrinol Invest, 2017 Klinefelter Syndrome (KS) is characterized by an extreme heterogeneity in its clinical and genetic presentation. The relationship between clinical phenotype and genetic background has been partially disclosed; nevertheless, physicians are aware that ...
Bonomi M +6 more
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Wilms tumor (nephroblastoma) – clinical and genetic aspects
Nowotwory, 2022 Nephroblastoma (Wilms tumor – WT) is the most common kidney tumor among the pediatric population, fifth among malignant neoplasms and third among solid tumors. The most common type of WT is sporadic and unilateral.
Małgorzata Janeczko-Czarnecka +3 more
doaj +1 more source
iScience, 2021 Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson +12 more
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Human variation in population-wide gene expression data predicts gene perturbation phenotype
iScience, 2022 Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro +18 more
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iScience, 2022 Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu +9 more
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