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Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome).
Mol Biol Rep
January 2025
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, Queen Square House, London, WC1N 3BG, UK.
Background: Male EBP disorder with neurologic defects (MEND syndrome) is an extremely rare disorder with a prevalence of less than 1/1,000,000 individuals worldwide. It is inherited as an X-linked recessive disorder caused by impaired sterol biosynthesis due to nonmosaic hypomorphic EBP variants. MEND syndrome is characterized by variable clinical manifestations including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities.
View Article and Find Full Text PDFObesity and fibromyalgia are associated with Difficult-to-Treat Rheumatoid Arthritis (D2T-RA) independent of age and gender.
Arthritis Res Ther
January 2025
Department of Biomedical Sciences, Humanitas University, Via R Levi Montalcini 4, Pieve Emanuele, Milan, 20090, Italy.
Background: There is still a significant proportion of patients with rheumatoid arthritis (RA) in whom multiple therapeutic lines are ineffective. These cases are defined by the EULAR criteria as Difficult-to-Treat RA (D2T-RA) for which there is limited knowledge of predisposing factors.
Objective: To identify the clinical features associated with D2T-RA in real-life practice.
Relationship between BMI, indicators of lipid metabolism and diabetic neuropathy: a Mendelian randomization study.
Diabetol Metab Syndr
January 2025
First Central Clinical Medical Institute, Tianjin Medical University, Tianjin, China.
Background: To identify the relationship between BMI or lipid metabolism and diabetic neuropathy using a Mendelian randomization (MR) study.
Methods: Body constitution-related phenotypes, namely BMI (kg/m), total cholesterol (TC), and triglyceride (TG), were investigated in this study. Despite the disparate origins of these data, all were accessible through the IEU OPEN GWAS database ( https://gwas.
Building a growing genomic repository for maternal and fetal health through the PING Consortium.
Pediatr Res
January 2025
Center for Genetic Medicine, Children's National Research Institute, Washington, DC, USA.
Background: Prenatally transmitted viruses can cause severe damage to the developing brain. There is unexplained variability in prenatal brain injury and postnatal neurodevelopmental outcomes, suggesting disease modifiers. Of note, prenatal Zika infection can cause a spectrum of neurodevelopmental disorders, including congenital Zika syndrome.
View Article and Find Full Text PDFGenomic and phenotypic stability of fusion-driven pediatric sarcoma cell lines.
Nat Commun
January 2025
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Human cancer cell lines are the mainstay of cancer research. Recent reports showed that highly mutated adult carcinoma cell lines (mainly HeLa and MCF-7) present striking diversity across laboratories and that long-term continuous culturing results in genomic/transcriptomic heterogeneity with strong phenotypical implications. Here, we hypothesize that oligomutated pediatric sarcoma cell lines mainly driven by a fusion transcription factor, such as Ewing sarcoma (EwS), are genetically and phenotypically more stable than the previously investigated adult carcinoma cell lines.
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