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A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
J Neuromuscul Dis
September 2024
Division of Neuropediatrics and Developmental Medicine, University Children's Hospital Basel (UKBB), University of Basel, Basel, Switzerland.
Article Synopsis
- LAMA2-related muscular dystrophy (LAMA2-RD) is a genetic disorder that affects muscle function and is commonly seen in congenital cases; there is a focus on developing new therapies and understanding its epidemiology.
- The study analyzed a baseline cohort of 18 patients in Switzerland using data from the Swiss Registry for Neuromuscular Disorders, examining various diagnostic and clinical factors related to their health.
- Findings revealed that most patients (14) had the severe form of the disease with early onset symptoms, highlighting significant brain abnormalities in many cases, underscoring the complexity and variability of LAMA2-RD.
Pharmacokinetic Modeling and Simulation with Pharmacogenetic Insights Support the Relevance of Therapeutic Drug Monitoring for Myeloablative Busulfan Dosing in Adult HSCT.
Transplant Cell Ther
March 2024
Department of Pediatrics, Gynecology and Obstetrics, Cansearch Research Platform for Pediatric Oncology and Hematology, Faculty of Medicine, University of Geneva, Geneva, Switzerland; Division of Pediatric Oncology and Hematology, Department of Women, Child and Adolescent, University Geneva Hospitals, Geneva, Switzerland. Electronic address:
Therapeutic drug monitoring (TDM) of busulfan (Bu) is well-established in pediatric hematopoietic stem cell transplantation (HSCT), but its use in adults is limited due to a lack of clear recommendations and scarcity of evidence regarding its utility. GSTA1 promoter variants are reported to affect Bu clearance in both adults and pediatric patients. This study aimed to evaluate the value of preemptive genotyping GSTA1 and body composition (obesity) in individualizing Bu dosing in adults, through pharmacokinetic (PK) modeling and simulations.
View Article and Find Full Text PDFDSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects.
BMC Vet Res
January 2022
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Article Synopsis
- * A 2-week-old Scottish Highland calf with symptoms resembling congenital ichthyosis exhibited severe skin scaling, alopecia, and additional health issues, leading to a post-mortem study that confirmed the diagnosis through histopathological findings.
- * Whole-genome sequencing identified a specific genetic variant (DSP: c.6893 C>A) associated with the calf's condition, which alters a key protein in cell adhesion, and the variant appears to be rare in the population studied, highlighting a potential genetic factor in this form of ich
Independent DSG4 frameshift variants in cats with hair shaft dystrophy.
Mol Genet Genomics
January 2022
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Investigations of hereditary phenotypes in spontaneous mutants may help to better understand the physiological functions of the altered genes. We investigated two unrelated domestic shorthair cats with bulbous swellings of the hair shafts. The clinical, histopathological, and ultrastructural features were similar to those in mice with lanceolate hair phenotype caused by loss-of-function variants in Dsg4 encoding desmoglein 4.
View Article and Find Full Text PDFSodium taurocholate co-transporting polypeptide deficiency.
Clin Res Hepatol Gastroenterol
March 2022
Swiss Pediatric Liver Center, Division of Pediatric Specialties, Department of Pediatrics, Gynecology and Obstetrics, University of Geneva, Geneva, Switzerland.
Introduction: Little is known about bile acid transporter defects on the basolateral side of hepatocytes. In 2015 Vaz et al. published a first case of SLC10A1 mutation causing Na-taurocholate Co-transporting Polypeptide deficiency with hypercholanemia and normal bilirubin and Autotaxin levels.
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