Publications by authors named "R L Chevalier"
Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of kidney failure in children and adolescents. CAKUT describes a wide spectrum of structural disorders with a prenatal origin. The etiology of CAKUT is multifactorial, including environmental, nongenetic, and genetic causes that impact kidney development as well as upper and lower urinary tract development.
View Article and Find Full Text PDFRubinstein-Taybi syndrome (RTS) is a rare and severe genetic developmental disorder characterized by multiple congenital anomalies and intellectual disability. CREBBP and EP300, the two genes known to cause RTS encode transcriptional coactivators with a catalytic lysine acetyltransferase (KAT) activity. Loss of CBP or p300 function results in a deficit in protein acetylation, in particular at histones.
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- Epidermodysplasia verruciformis (EV) is a rare skin condition linked to β-human papillomaviruses (HPV) in immunodeficient individuals, presenting as flat warts and pityriasis-like lesions.
- The study details three patients from two families with syndromic EV, identified through whole exome sequencing to have new homozygous variants in the STK4 gene, resulting in a premature stop codon.
- STK4 deficiency causes a combined immunodeficiency leading to increased susceptibility to various infections and autoimmune issues, as evidenced by immunophenotyping showing significant CD4 T cell deficiency in the patients.
Identification of disease and therapeutic biomarkers remains a significant challenge in the early diagnosis and effective treatment of juvenile idiopathic arthritis (JIA). In this study, plasma metabolomic profiling was conducted to identify disease-related metabolic biomarkers associated with JIA. Plasma samples from treatment-naïve JIA patients and non-JIA reference patients underwent global metabolomic profiling across discovery (60 JIA, 60 non-JIA) and replication (49 JIA, 38 non-JIA) cohorts.
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- Chronic inflammation in gastrointestinal tissues leads to disorders like Crohn's disease and ulcerative colitis, causing significant symptoms and tissue damage.
- The study analyzed blood samples from patients with various gastrointestinal conditions to explore gene expression changes, using advanced techniques like single-cell RNA-sequencing.
- Researchers found 730 genes with altered expression patterns, indicating both shared and unique inflammatory responses among the different disorders, which may aid in diagnosis and understanding of these conditions.