A5055862921- Renal Diseases and Glomerulopathies
- Systemic Lupus Erythematosus Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Vasculitis and related conditions
- Complement system in diseases
- Autoimmune and Inflammatory Disorders Research
- Connective tissue disorders research
- Plant Stress Responses and Tolerance
- Hematopoietic Stem Cell Transplantation
- Hormonal Regulation and Hypertension
- Renin-Angiotensin System Studies
- Childhood Cancer Survivors' Quality of Life
- Blood Pressure and Hypertension Studies
- Diabetes and associated disorders
- Ocular Diseases and Behçet’s Syndrome
- Pneumocystis jirovecii pneumonia detection and treatment
- Liver Diseases and Immunity
- Lymphatic Disorders and Treatments
- Cytomegalovirus and herpesvirus research
- Renal Transplantation Outcomes and Treatments
- Chronic Kidney Disease and Diabetes
- Glycosylation and Glycoproteins Research
- Adolescent and Pediatric Healthcare
- Acute Lymphoblastic Leukemia research
- Parathyroid Disorders and Treatments
Washington University in St. Louis
2019-2024
Beth Israel Deaconess Medical Center
2019-2022
Harvard University
2019-2022
Boston Children's Hospital
2018-2022
St. Louis Children's Hospital
2021-2022
Transient receptor potential cation channel subfamily C member 6 (TRPC6) is a widely expressed ion channel. Gain–of–function mutations in the human TRPC6 cause autosomal-dominant focal segmental glomerulosclerosis, but molecular components involved disease development remain unclear. Here, we found that overexpression of gain–of–function variants cytotoxic cultured cells. Exploiting this phenotype genome-wide CRISPR/Cas screen for genes whose inactivation rescues cells from TRPC6-associated...
Performing adequately powered clinical trials in pediatric diseases, such as SLE, is challenging. Improved recruitment strategies are needed for identifying patients.Electronic health record algorithms were developed and tested to identify children with SLE both without lupus nephritis. We used single-center electronic data develop computable phenotypes composed of diagnosis, medication, procedure, utilization codes. These evaluated iteratively against a manually assembled database patients...
Mucin-type O-linked glycosylation, a posttranslational modification affecting the stability and biophysical characteristics of proteins, requires C1GalT1 (T synthase) its obligate, X-linked chaperone Cosmc. Hypomorphic mutations cause renal failure via not yet established mechanisms. We hypothesize that impaired Cosmc-dependent O-glycosylation in podocytes is sufficient to disease. Podocyte-specific Cosmc knockout mice were generated phenotyped test this hypothesis. Female heterozygous...
Mutations in TRPC6 are a cause of autosomal dominant focal segmental glomerulosclerosis humans. Many these mutations known to have gain-of-function effect on the non-specific cation channel function TRPC6. In vitro studies suggested affect several signaling pathways, but vivo largely compared wild-type and Trpc6 -deficient rodents. We developed mice carrying mutation encoding an E896K amino acid change, corresponding FSGS . Homozygous mutant animals no appreciable renal pathology, do not...
Abstract Mutations in TRPC6 are a cause of autosomal dominant focal segmental glomerulosclerosis humans. Many these mutations known to have gain-of-function effect on the non-specific cation channel function TRPC6. In vitro studies suggested affect several signaling pathways, but vivo largely compared wild-type and Trpc6 -deficient rodents. We developed mice carrying mutation encoding an E896K amino acid change, corresponding FSGS . Homozygous mutant animals no appreciable renal pathology,...
A 10-year-old girl presents to the emergency department with 1 week of nightly fevers, up 102.9°F (39.4°C), associated headaches and chills. Three days before presentation she was diagnosed as having a presumed viral syndrome by her primary care physician discharged supportive measures. She subsequently developed intermittent abdominal pain, mottled skin over arms legs, generalized pallor.The patient has type diabetes mellitus hypothyroidism. Her family history is notable for mother mixed...