A5038129874- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Immunodeficiency and Autoimmune Disorders
- TGF-β signaling in diseases
- Protein Tyrosine Phosphatases
- PI3K/AKT/mTOR signaling in cancer
- RNA Research and Splicing
- Vector-Borne Animal Diseases
- Glycosylation and Glycoproteins Research
- Metabolism and Genetic Disorders
- Biochemical and Molecular Research
- Immune Cell Function and Interaction
- DNA Repair Mechanisms
- Muscle metabolism and nutrition
- Bone Metabolism and Diseases
- Neurogenetic and Muscular Disorders Research
- Restless Legs Syndrome Research
- Respiratory viral infections research
- Pancreatic function and diabetes
- Cell Adhesion Molecules Research
- BRCA gene mutations in cancer
- Viral gastroenteritis research and epidemiology
- Glycogen Storage Diseases and Myoclonus
- Agriculture and Farm Safety
Eaton (United States)
2020-2025
New Leaf Center
2020-2025
Akron Children's Hospital
2019-2025
Clinic for Special Children
2020-2025
Northeast Ohio Medical University
2014
Abstract Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα’s role PI4P generation requires its assembly into heterotetrameric complex EFR3, TTC7 and FAM126. Sequence alterations two these molecular partners, (encoded by TTC7A or TCC7B) FAM126, have been associated heterogeneous group either neurological (FAM126A)...
Osteoactivin (OA), also known as glycoprotein nmb (gpnmb) plays an important role in the regulation of osteoblast differentiation and function. OA induced function vitro by stimulating alkaline phosphatase (ALP) activity, osteocalcin production, nodule formation, matrix mineralization. Recent studies reported a for cell adhesion integrin binding. In this study, we demonstrate that recombinant osteoactivin (rOA) matricellular protein stimulated adhesion, spreading MC3T3-E1 osteoblast-like...
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose associated with an increased risk lethality. The differential diagnosis antenatal radial ray malformations includes Fanconi anemia (FA), inherited bone marrow failure disorder in around 75% affected individuals. Although no definitive genotype–phenotype correlations have been demonstrated, a more severe presentation has proposed association biallelic loss function variants as opposed...
SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findings complex inherited neurodevelopmental disorder 35 individuals associated with NM_024700.4:c.1097A>G, p.(Glu366Gly) variant, present at high frequency Amish community. The cardinal features condition include hypotonia, global developmental delay,...
KPTN-related disorder is an autosomal recessive associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into pathogenesis disorder, we analysed mouse knockout and human stem cell loss-of-function models. Kptn -/- mice display many key phenotypes, including brain overgrowth, behavioural abnormalities, cognitive deficits. By assessment affected individuals, have identified widespread deficits (n = 6)...
Abstract Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy hepatic adenomas. We conducted a retrospective observational study on cohort Amish patients with GSD1a. A total 15 cared for at single center, median age 9.9 years (range 0.25–24 years) were included. All shared the same founder variant in GCPC c.1039 C > T. The phenotype this demonstrated...
Abstract KPTN -related disorder (KRD) is an autosomal recessive associated with germline variants in ( kaptin ), a component of the mTOR regulatory complex KICSTOR. To gain further insights into pathogenesis KRD, we analysed mouse knockout and human stem cell loss-of-function models. Kptn −/− mice display many key KRD phenotypes, including brain overgrowth, behavioural abnormalities, cognitive deficits. Assessment affected individuals has identified concordant selectivity deficits, postnatal...