A5054081202- Connective tissue disorders research
- Retinal Development and Disorders
- Ocular Oncology and Treatments
- Metalloenzymes and iron-sulfur proteins
- Multiple Sclerosis Research Studies
- Cancer and Skin Lesions
- Nonmelanoma Skin Cancer Studies
- Mitochondrial Function and Pathology
- Cardiomyopathy and Myosin Studies
- Mycobacterium research and diagnosis
- TGF-β signaling in diseases
- Shoulder Injury and Treatment
- ATP Synthase and ATPases Research
- Photochromic and Fluorescence Chemistry
- Social Media in Health Education
- Neurogenesis and neuroplasticity mechanisms
- RNA modifications and cancer
- Cardiac, Anesthesia and Surgical Outcomes
- Retinal Diseases and Treatments
- Hip disorders and treatments
- Rheumatoid Arthritis Research and Therapies
- Data-Driven Disease Surveillance
- Hip and Femur Fractures
- Bone and Dental Protein Studies
- Ubiquitin and proteasome pathways
Baylor College of Medicine
2024
Texas Children's Hospital
2024
University of Miami
2014-2024
Dr. John T. Macdonald Foundation
2014-2022
University of Miami Health System
2021
Bristol Royal Infirmary
2017
To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant (adRP).A series strategies, including candidate gene screening, linkage exclusion, genome-wide mapping, and whole-exome next-generation sequencing, was used to mutation novel disease on chromosome 10q22.1. Probands from an additional 404 retinal degeneration families were subsequently screened for mutations this gene.Exome sequencing UTAD003 led identification...
Abstract Phenotypic features of a hereditary connective tissue disorder, including craniofacial characteristics, hyperextensible skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal hernia, and diverticulosis associated with biallelic pathogenic variants in EFEMP1 have been previously described four patients. Genome sequencing on proband her mother comparable phenotypic revealed that both patients were heterozygous for stop‐gain variant c.1084C>T (p.Arg362*). Complementary RNA‐seq...
Monoallelic gain-of-function mutation in EFEMP1 is known to cause an early-onset isolated retinal dystrophy. Phenotypic spectrum of was expanded with recent description four patients biallelic pathogenic variants and features hereditary connective tissue disorders including facial dysmorphism, loose skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal hernia, diverticulosis. We describe the first report a monoallelic variant resulting comparable phenotypic mother-daughter duo who are...
Multiple mitochondrial dysfunctions syndrome type 3 (MMDS3) is a rare autosomal recessive leukoencephalopathy caused by biallelic pathogenic variants in the IBA57 gene. The gene protein product, IBA57, has an unknown role iron–sulfur (Fe-S) cluster biogenesis but required for maturation of [4Fe-4S] proteins. To better understand MMDS3, we have investigated impact p.Gly104Cys (c.310G > T) variant on structural and functional properties IBA57. Gly104Cys been associated with severe MMDS3...
Purpose: Müller glia (MG) in the retina of Xenopus laevis (African clawed frog) reprogram to a transiently amplifying retinal progenitor state after an injury. These progenitors then give rise new neurons. In contrast, mammalian MG have restricted neurogenic capacity and undergo reactive gliosis This study sought establish cell lines from regeneration-competent frog regeneration-deficient mouse. Methods: were isolated postnatal day 5 GLAST-CreERT; Rbfl/fl mice adult (3–5 years...
Abstract Although many regional multiple sclerosis (MS) databases existed in the United States and Canada, there was no single clinician-derived registry that examined this disease as a group across North American continent. This distinction is important because information results from such database can potentially give perspectives about MS cannot be derived any registry. A partnership forged between pharmaceutical industry Consortium of Multiple Sclerosis Centers (CMSC) to create patients...
Objective To describe the utilization of online resources by patients prior to presentation an ophthalmic emergency department (ED) and assess accuracy for diagnoses. Methods This is a prospective survey presenting ED initial evaluation ocular symptoms. Prior evaluation, completed surveys assessing symptoms, Internet usage, presumed self-diagnoses. Demographics characteristics usage were determined. Accuracy self-diagnoses was compared between users nonusers. Diagnoses classified as high or...
Osteogenesis imperfecta (OI) is a rare connective tissue disorder with clinical and genetic heterogeneity. The cardinal features of OI are bone fragility low mineral density (BMD). Pathogenic variants in COL1A1 COL1A2 genes, which encode the proα-1(I) proα-2(I) chains Type 1 collagen, most common causes OI. Mutations disrupting carboxy-terminal propeptide cleavage site have recently been reported as paradoxically normal to high BMD. This report describes father daughter who heterozygous for...
April 25, 2018April 10, 2018Free AccessCSF Neurogranin Levels Predict Cognitive Decline in MCI Patients (P4.185)Xiaoyan Sun, Alison Headley, Andres De leon-Benedetti, Chuanhui Dong, Steven Lang, Bonnie Levin, Tatjana Rundek, Christian Carmago, Clinton Wright, Henrik Zetterberg, Kaj Blennow, and David LoewensteinAuthors Info & AffiliationsApril 2018 issue90 (15_supplement)https://doi.org/10.1212/WNL.90.15_supplement.P4.185 Letters to the Editor
Abstract The efficient migration, survival, and engraftment of transplanted cells are important initial steps toward effective cellular therapies for retinal degenerative diseases. inner limiting membrane (ILM), which separates the retina from vitreous cavity, is a major barrier intravitreally cells. Focusing on components ILM, we found that cell adhesion molecule N-cadherin (NCAD) at Müller glia (MG) endfeet helps maintain this barrier. To increase ILM permeability, modulated NCAD...
Abstract Background: Sebaceous carcinoma (SC) is a highly malignant and potentially lethal neoplasm that most commonly arises from the ocular adnexa. Surgical management current mainstay of treatment; however, globe sparing tumor control often complicated by pagetoid (or intraepithelial) invasion. Topical mitomycin-c (MMC) or 5-fluorouracil (5-FU) have been used as adjunctive medical therapy on basis their success in treating other neoplasms. Yet, little known effects SC tumorgenicity. Here,...
To examine the relationship between cognitive subscale of modified fatigue impact scale (MFIS-CS) and objective measures cognition in patients with multiple sclerosis (MS).