Julie A. Jurgens
A5066506292- Hormonal Regulation and Hypertension
- Genetics and Neurodevelopmental Disorders
- Ion Transport and Channel Regulation
- RNA modifications and cancer
- Genomics and Rare Diseases
- Receptor Mechanisms and Signaling
- Genomic variations and chromosomal abnormalities
- Ophthalmology and Eye Disorders
- RNA Research and Splicing
- Connective tissue disorders research
- Bone and Dental Protein Studies
- Craniofacial Disorders and Treatments
- Ubiquitin and proteasome pathways
- Neurogenetic and Muscular Disorders Research
- Ocular Disorders and Treatments
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- Amyotrophic Lateral Sclerosis Research
- Congenital heart defects research
- RNA regulation and disease
- Soft tissue tumor case studies
- Nosocomial Infections in ICU
- Cancer Risks and Factors
- Genomics and Chromatin Dynamics
- Hedgehog Signaling Pathway Studies
Boston Children's Hospital
2019-2024
Harvard University
2019-2024
Boston Children's Museum
2024
Broad Institute
2019-2024
Johns Hopkins University
2014-2019
University of Maryland, Baltimore
2012-2019
Johns Hopkins Medicine
2014-2019
George Washington University
2019
Howard Hughes Medical Institute
2019
Children's National
2011-2012
Ceftaroline, the active form of prodrug ceftaroline fosamil, is a novel cephalosporin with bactericidal activity against important pathogens associated community-acquired pneumonia (CAP), including Streptococcus pneumoniae and common Gram-negative pathogens. FOCUS 1 randomized, double-blinded, Phase III study that was conducted to evaluate efficacy safety fosamil in treating patients CAP. The primary objective determine non-inferiority [lower limit 95% confidence interval (CI) ≥ −10%]...
Purpose:To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods:We coupled phenotyping with exome or genome sequencing of 467 probands (550 affected 1108 total individuals) genetically oCCDDs, integrating analyses pedigrees, human animal model phenotypes, de novo variants to rare candidate single nucleotide variants, insertion/deletions, structural disrupting protein-coding regions.Prioritized were...
<h3>Background</h3> Kohlschütter–Tönz syndrome (KTZS) is a rare autosomal-recessive disease characterised by epileptic encephalopathy, intellectual disability and amelogenesis imperfecta (AI). It frequently caused biallelic mutations in <i>ROGDI</i>. Here, we report on individuals with <i>ROGDI</i>-negative KTZS carrying <i>SLC13A5</i> mutations. <h3>Methods</h3> In the present cohort study, nine from four families clinical diagnosis of absence <i>ROGDI</i> as well one patient unexplained...
To functionally evaluate novel human sequence-derived candidate genes and variants for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Through exome genome sequencing of a genetically oCCDD cohort, we previously reported the identification in many genes. Here, describe parallel study that prioritized subset these (43 genes, 57 zebrafish genes) using G0 CRISPR/Cas9-based knockout assay generated F2 germline mutants 17. We tested functionality uncertain significance known...
Abstract Zinc finger protein 462 (ZNF462) is a relatively newly discovered vertebrate specific with known critical roles in embryonic development animal models. Two case reports and series study have described the phenotype of 10 individuals ZNF462 loss function variants. Herein, we present 14 new variants to previous studies delineate syndrome ZNF46 2. Collectively, these 24 recurring phenotypes that define multiple congenital anomaly syndrome. Most some form developmental delay (79%)...
The D1 dopamine receptor (D1R) is widely expressed in the kidney and plays a crucial role blood pressure regulation. Although much known about D1R desensitization, especially through G-protein-coupled kinase 4 (GRK4), comparatively little other aspects of trafficking proteins involved process. We now report discovery dynamic interaction between sorting nexin 5 (SNX5), component mammalian retromer, human renal epithelial cells. show that internalization agonist-activated regulated by both...
A proper interaction between muscle-derived collagen XXV and its motor neuron-derived receptors protein tyrosine phosphatases σ δ (PTP σ/δ) is indispensable for intramuscular innervation. Despite this, thus far, pathogenic recessive variants in the COL25A1 gene had only been detected a few patients with isolated ocular congenital cranial dysinnervation disorders. Here we describe five from three unrelated families missense splice site presenting recognizable phenotype characterized by...
Events that occur in the early fetal environment have been linked to long-term health and lifespan consequences adult. Intrauterine growth restriction (IUGR), which may as a result of nutrient insufficiency, exposure hormones, or disruptions placental structure function, induce fetus alter its developmental program order adapt new conditions. IUGR decrease expression genes are responsible for nephrogenesis nutrients rerouted development more essential organs. Fetal survival under these...
Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible this form the disease. PEDF is a secreted glycoprotein serpin superfamily that maintains bone homeostasis regulates osteoid mineralization, it encoded by currently associated with type VI (MIM 172860). Here, we report consanguineous Brazilian family which multiple...
Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations. SED, Stanescu type, vaguely delineated autosomal-dominant of unknown genetic etiology. Here, we report three individuals from two unrelated families with radiological features similar PPRD type who share the same novel COL2A1 variant were matched following discussion at an academic...
Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases ('laminopathies') including muscular dystrophy, dilated cardiomyopathy, familial partial lipodystrophy (FPLD2), insulin resistance syndrome progeria. To assess the prevalence of LMNA missense mutations ('variants') a broad, ethnically-diverse population, we compared alleles found among 60,706 unrelated individuals ExAC cohort to those identified 1,404 laminopathy database (UMD-LMNA). We...
Fem1 homolog B (FEM1B) acts as a substrate recognition subunit for ubiquitin ligase complexes belonging to the CULLIN 2-based E3 family. Several biological functions have been proposed FEM1B, including structurally resolved function sensor redox cell status by controlling mitochondrial activity, but its implication in human disease remains elusive.
To functionally evaluate novel human sequence-derived candidate genes and variants for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
The homeostatic control of blood pressure hinges upon the delicate balance between prohypertensinogenic and antihypertensinogenic systems. D₁-like dopamine receptors [dopamine D₁ D₅ (D₁Rs D₅Rs, respectively)] α₁A-adrenergic receptor (α₁A-AR) are expressed in renal proximal tubule engender opposing effects on Na(+) transport, i.e., natriuresis (via D₁Rs D5Rs) or antinatriuresis α₁A-ARs). We tested hypothesis that D₁R/D₅R regulates α₁A-AR. coimmunoprecipitated, colocalized, cofractionated with...
Oculomotor neurons (CN3s) and trochlear (CN4s) exhibit remarkable resistance to degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS) when compared spinal (SMNs). The ability isolate culture primary mouse CN3s, CN4s, SMNs would provide an approach study mechanisms underlying this selective vulnerability. To date, most protocols use heterogeneous cell cultures, which can confound the interpretation of experimental outcomes. minimize problems associated with mixed-cell...
ABSTRACT Purpose To identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs). Methods We coupled phenotyping with exome or genome sequencing of 467 pedigrees genetically oCCDDs, integrating analyses pedigrees, human animal model phenotypes, de novo variants to rare candidate single nucleotide variants, insertion/deletions, structural disrupting protein-coding regions. Prioritized were classified pathogenicity...