Publications by authors named "M R Seashore"
Article Synopsis
- * A study of 136 individuals with a specific mutation (p.Arg1809) revealed symptoms like multiple café-au-lait macules and developmental delays, with about a quarter showing Noonan-like features and more instances of short stature and pulmonic stenosis than typical NF1 patients.
- * The research found that the p.Arg1809 mutation leads to issues in melanocytes that cause a unique pigmentary phenotype, highlighting the importance of this genotype-phenotype link for patient
Article Synopsis
- A collaborative effort involving 154 laboratories across 49 countries aims to enhance newborn screening quality using a new approach based on tandem mass spectrometry.
- Multivariate pattern recognition software was developed by analyzing a large database of results, allowing for the integration of multiple clinical data points into a single score.
- The evaluation of this approach indicates significant improvements, with tools potentially reducing false-positive diagnoses by over 50% and false-negative cases by 88%, contributing to very low false-positive rates in Minnesota's screening results.
Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases.
Cytogenet Genome Res
May 2012
A ring chromosome replacing a normal chromosome could involve variable structural rearrangements and mitotic instability. However, most previously reported cases lacked further genomic characterization. High-resolution oligonucleotide array comparative genomic hybridization with single-nucleotide polymorphism typing (aCGH+SNP) was used to study 2 unrelated cases with a ring chromosome 21.
View Article and Find Full Text PDFObjective: We performed single-center outcome comparison of pediatric recipients who underwent liver transplantation for either genetic or metabolic disease including the clinical impact of using heterozygote parents as living donors.
Materials And Methods: Pediatric liver transplant recipients from September 2007 to December 2010 were included. Patients were separated into 2 categories by etiology of liver disease: (1) genetic or metabolic liver disease (G/M) and (2) nongenetic or metabolic liver disease (non-G/M), which included all other remaining etiologies combined.
Objective: Impaired glucose counterregulation during hypoglycemia is well documented in patients with type 1 diabetes; however, the molecular mechanisms underlying this defect remain uncertain. We reported that the inhibitory neurotransmitter γ-aminobutyric acid (GABA), in a crucial glucose-sensing region within the brain, the ventromedial hypothalamus (VMH), plays an important role in modulating the magnitude of the glucagon and epinephrine responses to hypoglycemia and investigated whether VMH GABAergic tone is altered in diabetes and therefore might contribute to defective counterregulatory responses.
Research Design And Methods: We used immunoblots to measure GAD(65) protein (a rate-limiting enzyme in GABA synthesis) and microdialysis to measure extracellular GABA levels in the VMH of two diabetic rat models, the diabetic BB rat and the streptozotocin (STZ)-induced diabetic rat, and compared them with nondiabetic controls.