A5026443846- Ubiquitin and proteasome pathways
- Connective tissue disorders research
- Ion Transport and Channel Regulation
- Ion channel regulation and function
- RNA modifications and cancer
- Genetics, Bioinformatics, and Biomedical Research
- Protein Kinase Regulation and GTPase Signaling
- Interpreting and Communication in Healthcare
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- BRCA gene mutations in cancer
- Enzyme function and inhibition
- Blood disorders and treatments
- CRISPR and Genetic Engineering
- Musculoskeletal synovial abnormalities and treatments
- Bone Tumor Diagnosis and Treatments
- Reproductive System and Pregnancy
- Sarcoma Diagnosis and Treatment
- Retinoids in leukemia and cellular processes
- Prenatal Screening and Diagnostics
Johns Hopkins Medicine
2016-2020
Johns Hopkins University
2016-2020
National Human Genome Research Institute
2020
National Institutes of Health
2020
American Society of Human Genetics
2020
Abstract Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is enchondromas, typically unilateral distribution a predilection for the appendicular skeleton. enchondromas bilaterally distributed most Both disorders feature swellings on extremity, deformity around joints, limitations joint mobility, scoliosis, bone shortening, leg‐length discrepancy, gait...
Elevated sweat chloride levels, failure to thrive (FTT), and lung disease are characteristic features of cystic fibrosis (CF, OMIM #219700). Here we describe variants in CA12 encoding carbonic anhydrase XII two pedigrees exhibiting CF-like phenotypes. Exome sequencing a white American adult diagnosed with CF due elevated chloride, recurrent hyponatremia, infantile FTT identified deleterious each gene: c.908-1 G>A splice acceptor novel frameshift insertion c.859_860insACCT. In an unrelated...
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) 5 Lumbee families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, susceptibility to malignant hyperthermia (MH). Here we present two non‐Native families, who were found have pathogenic variants. The first proband her affected older sister are from consanguineous Qatari family suspected clinical...
Health disparities between English-proficient and limited (LEP) groups in the United States have been widely documented. Provisions of Affordable Care Act (ACA), including increased funding to community health centers resources help consumers who are purchasing Marketplace coverage afford new access care for speakers languages other than English, which includes more 60 million individuals, one-third whom LEP. This commentary discusses legislative precedent for, successes of, potential future...
Bone dysplasias are a large group of disorders affecting the growth and structure skeletal system.In present study, we report clinical molecular delineation new form syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal deficiency causing profound limb shortening with proximal distal segments involvement, narrow chest, radiological abnormalities involving spine, pelvis metaphyses, corneal clouding intellectual disability....
Abstract Spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) is a rare autosomal recessive disorder of the skeleton and retina caused by biallelic variants in PCYT1A , encoding nuclear enzyme CTP:phosphocholine cytidylyltransferase α (CCTα), which catalyzes rate-limiting step phosphatidylcholine (PC) biosynthesis Kennedy pathway. As first understanding consequences on SMD-CRD pathophysiology, we generated characterized series cellular models for SMD-CRD, including CRISPR-edited...