A5047373428- Cystic Fibrosis Research Advances
- Lysosomal Storage Disorders Research
- Neonatal Respiratory Health Research
- Genomics and Rare Diseases
- Trypanosoma species research and implications
- Bone and Dental Protein Studies
- Cellular transport and secretion
- dental development and anomalies
- Prenatal Screening and Diagnostics
- Glycosylation and Glycoproteins Research
- Genetics and Neurodevelopmental Disorders
- Immunodeficiency and Autoimmune Disorders
- Fetal and Pediatric Neurological Disorders
- Biochemical and Molecular Research
- Oral and Maxillofacial Pathology
- RNA modifications and cancer
- Carbohydrate Chemistry and Synthesis
- Congenital Ear and Nasal Anomalies
- Respiratory viral infections research
- Autoimmune Neurological Disorders and Treatments
- Sleep and related disorders
- Impact of Technology on Adolescents
- Diet, Metabolism, and Disease
- RNA regulation and disease
- Software Engineering Research
National Human Genome Research Institute
2009-2024
Johns Hopkins Medicine
2015-2024
Johns Hopkins University
2015-2024
Columbia University
2024
New York Genome Center
2024
National Institutes of Health
2009-2023
Soonchunhyang University Hospital
2016-2019
University of Alberta
2016
Seoul Medical Center
2014
National Institute of Dental and Craniofacial Research
2009-2012
In order to increase our ability use measurement support software development practise we need do more analysis of code. However, empirical studies code are expensive and their results difficult compare. We describe the Qualitas Corpus, a large curated collection open source Java systems. The corpus reduces cost performing supports comparison measurements same artifacts. discuss its design, organisation, issues associated with development.
Treatment of individuals with cystic fibrosis (CF) has been transformed by small molecule therapies that target select pathogenic variants in the CF transmembrane conductance regulator (CFTR). To expand treatment eligibility, we stably expressed 43 rare missense CFTR associated moderate from a single site genome human bronchial epithelial (CFBE41o–) cells. The magnitude drug response was highly correlated residual function for potentiator ivacaftor, corrector lumacaftor, and...
Rationale: The advent of precision treatment for cystic fibrosis using small-molecule therapeutics has created a need to estimate potential clinical improvements attributable increases in transmembrane conductance regulator (CFTR) function. Objectives: To derive CFTR function variety genotypes and correlate with key features (sweat chloride concentration, pancreatic exocrine status, lung function) develop benchmarks assessing response modulators. Methods: assigned 226 unique was correlated...
Abstract Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in gene encoding anthrax toxin receptor 2 protein ( ANTXR2 ) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures joints, osteolytic bone defects. The report describes a pair sibs three...
CFTR modulators have revolutionized the treatment of individuals with cystic fibrosis (CF) by improving function existing protein. Unfortunately, almost half disease-causing variants in are predicted to introduce premature termination codons (PTC) thereby causing absence full-length We hypothesized that a subset nonsense and frameshift allow expression truncated protein might respond FDA-approved modulators. To address this concept, we selected 26 PTC-generating from four regions determined...
FAM83H gene mutations are associated with autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI), which is typically characterized by enamel having normal thickness and a markedly decreased mineral content. This study tested the hypothesis that there phenotype genotype associations in families FAM83H-associated ADHCAI. Seven segregating ADHCAI (147 individuals) were evaluated. Phenotyping included clinical, radiographic, histological, biochemical studies, genotyping was mutational...
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...
Abstract Purpose GM1 gangliosidosis (GM1) is an ultra-rare lysosomal storage disease caused by pathogenic variants in galactosidase beta 1 ( GLB1 ; NM_000404), primarily characterized neurodegeneration, often children. There are no approved treatments for GM1, but clinical trials using gene therapy NCT03952637 , NCT04713475 ) and small molecule substrate inhibitors NCT04221451 ongoing. Understanding the natural history of essential timely diagnosis, facilitating better supportive care,...
Abstract Some residues in the cystic fibrosis transmembrane conductance regulator (CFTR) channel are site of more than one CFTR variant that cause fibrosis. Here, we investigated function S1159F and S1159P, two variants associated with different clinical phenotypes, which affect same pore‐lining residue segment 12 both strongly potentiated by ivacaftor when expressed CFBE41o − bronchial epithelial cells. To study single‐channel behaviour CFTR, applied patch‐clamp technique to Chinese hamster...
Abstract Amelogenesis imperfectas (AI) are a group of inherited defects dental enamel formation that show both clinical and genetic heterogeneity. Seven Turkish families segregating autosomal recessive AI (ARAI) were evaluated for evidence etiology the seven major candidate gene loci ( AMBN , AMELX ENAM FAM83H KLK4 MMP20 TUFT1 ). Dental periodontal characteristics affected members these also described. The mean scores DMFS dfs indices 9.7 9.6, respectively. PPD was 2.2 mm percentage sites...
The anti-inflammatory effects of an aqueous extract Schizonepeta tenuifolia on lipopolysaccharide (LPS)-induced tumour necrosis factor-alpha (TNF-alpha) and interleukin-6 (IL-6) in vivo vitro have been investigated.C57BL/6 mice were orally administered phosphate-buffered saline (control) or S. water (50, 200, 500 1000 mg/kg) for 10 days before intraperitoneal administration LPS (1.3 mg/kg). Blood samples obtained 1 h after challenge, followed by determination TNF-alpha IL-6 levels....
Use of genome sequencing (GS) for the identification monogenic disorders in fetuses with structural anomalies is known to increase diagnostic yield. However, less about yield non-anomalous low risk cases undergoing standard prenatal diagnoses indications such as advanced maternal age. Since GS has potential be a single test comparable karyotype and chromosomal microarray additional capability identifying gene disorders, we investigated performance testing without anomalies.
Genome (GS) and Exome (ES) sequencing are powerful tools for obtaining molecular diagnoses prenatally postnatally. However, many GS ES cases remain unsolved despite a strong clinical suspicion an underlying genetic syndrome. One reason non-diagnostic results is that although rare, predicted splice-altering variants identified, their significance remains uncertain due to the lack of supportive functional data. In subset cases, this may be resolved with RNA (RNA-seq).