Publications by authors named "M G Buse"
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
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- Tubular injury is a key problem in acute kidney injury (AKI) that affects both patients and healthcare systems.
- Researchers created special mice to study how certain kidney cells change during injury and can return to normal after healing.
- The study found that these injured cells can revert back to their healthy state once the injury is treated, showing that the kidney has a way to adapt and recover.
Background: Glucocorticoids are the treatment of choice for proteinuric patients with minimal change disease (MCD) and primary focal segmental glomerulosclerosis (FSGS). Immunosuppressive as well as direct effects on podocytes are believed to mediate their actions. In this study, we analyzed the anti-proteinuric effects of inhibition of the glucocorticoid receptor (GR) in glomerular epithelial cells, including podocytes.
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- - Deleterious variants in collagen genes are a primary cause of hereditary connective tissue disorders (HCTD), and there's a need for better adaptations of existing classification criteria by ACMG/AMP.
- - A multidisciplinary team developed tailored ACMG/AMP specifications for key collagen genes, effectively classifying pathogenic variants, particularly focusing on null alleles and certain glycine substitutions.
- - The new criteria aim to clarify the interpretation of genetic variants in HCTD, helping reduce ambiguities and improving the clinical application of molecular testing by fostering better collaboration between labs and clinicians.
Biallelic loss-of-function variants in cause a recessive syndromic intellectual disability condition with or without epilepsy (MRT18). Due to the small number of reported individuals, the clinical phenotype of the disorder has not been fully delineated yet, and the spectrum and frequency of neurologic features have not been fully characterized. Here, we report a 5-year-old girl with compound heterozygous for two additional variants.
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