A5036346491- Connective tissue disorders research
- Dermatological and Skeletal Disorders
- Dupuytren's Contracture and Treatments
- Cell Adhesion Molecules Research
- Craniofacial Disorders and Treatments
- Spinal Fractures and Fixation Techniques
- Neurogenetic and Muscular Disorders Research
- Spinal Dysraphism and Malformations
- Osteoarthritis Treatment and Mechanisms
- Fibroblast Growth Factor Research
- Child Abuse and Related Trauma
- Shoulder Injury and Treatment
- Aortic Disease and Treatment Approaches
- Metabolism and Genetic Disorders
- Bone Metabolism and Diseases
- Hip disorders and treatments
- Bone health and treatments
- Genetic Syndromes and Imprinting
- Cancer-related molecular mechanisms research
- Genetic and Kidney Cyst Diseases
- RNA Research and Splicing
- Neonatal Respiratory Health Research
- Cerebrospinal fluid and hydrocephalus
- Bone and Dental Protein Studies
- RNA modifications and cancer
Indiana University – Purdue University Indianapolis
2019-2024
Indiana University School of Medicine
2019-2024
Medical University of South Carolina
2024
Riley Hospital for Children
2024
Baylor College of Medicine
2023
American College of Medical Genetics
1998-2023
Indiana University – Purdue University Columbus
2023
Indiana University
2023
University School
2023
Mayo Clinic in Florida
2023
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, fragility. Over the past two decades, Villefranche Nosology, which delineated six subtypes, has been widely used as standard for clinical diagnosis EDS. For most these mutations had identified in collagen-encoding genes, or genes encoding collagen-modifying enzymes. Since its publication 1998,...
McCune-Albright syndrome (MAS) is characterized by polyostotic fibrous dysplasia, café-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, hyperprolactinemia. The diverse metabolic abnormalities seen in MAS share the involvement cells that respond to extracellular signals through activation hormone-sensitive adenylyl cyclase system (EC 4.6.1.1). Mutations lead constitutive Gs alpha, guanine...
Nonsense mutations create a premature signal for the termination of translation messenger RNA. Such have been observed to cause severe reduction in amount mutant allele transcript or generate peptide truncated at carboxyl end. Analysis fibrillin from patient with Marfan syndrome revealed skipping constitutive exon containing nonsense mutation. Similar results were two gene encoding ornithine δ-aminotransferase patients gyrate atrophy. All genomic DNA sequences flanking these exons that are...
Defects of fibrillin (FBN1), a glycoprotein component the extracellular microfibril, cause Marfan syndrome. This disorder is characterized by marked inter- and intrafamilial variation in phenotypic severity. To understand molecular basis for this clinical observation, we have screened gene (FBN1) on chromosome 15, including newly cloned 5′ coding sequence, disease-producing alterations panel patients with wide range manifestations All missense mutations identified to date, two novel...
SummaryMore than 97% of achondroplasia cases are caused by one two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results a specific amino acid substitution, G380R. Sporadic have been associated with advanced paternal age, suggesting that these occur preferentially during spermatogenesis. We determined parental origin mutation 40 sporadic cases. Three distinct 1-bp polymorphisms were identified FGFR3 within close proximity to site. Ninety-nine...
Object Chiari malformation Type I (CM-I) is generally regarded as a disorder of the paraxial mesoderm. The authors report an association between CM-I and hereditary disorders connective tissue (HDCT) that can present with lower brainstem symptoms attributable to occipitoatlantoaxial hypermobility cranial settling. Methods prevalence HDCT was determined in prospectively accrued cohort 2813 patients CM-I. All underwent detailed medical neuroradiological workup included assessment articular...
In this study of infants with isolated birth defects, 69 cleft palate only cases, 114 lip or without and 284 controls noncleft defects (all born in Maryland between 1984 1992) were examined to test for associations among maternal exposures, genetic markers, oral clefts. A significantly higher frequency positive family history both groups cases compared was seen these data. While there a modest increase the less common C2 allele at TaqI site transforming growth factor alpha (TGF alpha) locus...
The Marfan syndrome is a common autosomal dominant disorder of connective tissue. Despite many years intensive investigation, the primary genetic defect has not yet been identified. Reverse methods, targeted at mapping this disease gene, have resulted in an initial report linkage locus for phenotype Finnish families to two polymorphic markers on chromosome 15. We investigated four large multiplex American with classic using standard methods. Our data confirm assignment gene 15, but establish...