A5090273472- Congenital heart defects research
- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Hippo pathway signaling and YAP/TAZ
- Genomics and Rare Diseases
- Nuclear Structure and Function
- Endoplasmic Reticulum Stress and Disease
- Bone and Dental Protein Studies
- Fetal and Pediatric Neurological Disorders
- dental development and anomalies
- Epigenetics and DNA Methylation
- Genetic and Kidney Cyst Diseases
- Congenital Heart Disease Studies
- Cardiovascular Conditions and Treatments
- Peptidase Inhibition and Analysis
- RNA modifications and cancer
- Proteoglycans and glycosaminoglycans research
- Genetic Syndromes and Imprinting
- Digestive system and related health
- Prenatal Screening and Diagnostics
- Cancer-related gene regulation
University of Cincinnati
2024
Cincinnati Children's Hospital Medical Center
2024
National Hospital for Neurology and Neurosurgery
2024
University College London
2024
University of Würzburg
2017-2024
Sabzevar University of Medical Sciences
2024
Institute of Human Genetics
2020
The transport and Golgi organization 1 (TANGO1) proteins play pivotal roles in the secretory pathway. Full length TANGO1 is a transmembrane protein localised at endoplasmic reticulum (ER) exit sites, where it binds bulky cargo within ER lumen recruits membranes from intermediate compartment to create an route for their export. Here we report first TANGO1-associated syndrome humans. A synonymous substitution that results exon eight skipping most mRNA molecules, ultimately leading truncated...
Skeletal dysplasia with multiple dislocations are severe disorders characterized by of large joints and short stature. The majority them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations SLC10A7 six individuals skeletal amelogenesis imperfecta. encodes a 10-transmembrane-domain transporter located at the plasma membrane. Functional...
Dysregulated transforming growth factor TGF-β signaling underlies the pathogenesis of genetic disorders affecting connective tissue such as Loeys-Dietz syndrome. Here, we report 12 individuals with bi-allelic loss-of-function variants in IPO8 who presented a syndromic association characterized by cardio-vascular anomalies, joint hyperlaxity, and various degree dysmorphic features developmental delay well immune dysregulation; were from nine unrelated families. Importin 8 belongs to...
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence dual molecular diagnoses in patients with “blended” phenotype that the result 2 clinical involving separate genetic loci. This blended could be mistakenly interpreted as novel extension disorder. In this study, we ascertained proband from large consanguineous...
Abstract Background/Objectives: Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these investigations may open novel therapeutic options for patients. In this study, we aimed to identify the cause an Iranian patient with severe skeletal dysplasia and model its function zebrafish embryos. Results: The proband displays short stature multiple...
Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these investigations may open novel therapeutic options for patients. In this study, we aimed to identify the cause an Iranian patient with severe skeletal dysplasia and model its function zebrafish embryos. The proband displays short stature multiple abnormalities, including mesomelic arms...
The vast majority of cases with Beckwith-Wiedemann syndrome (BWS) are caused by a molecular defect in the imprinted chromosome region 11p15.5. underlying mechanisms include epimutations, uniparental disomy, copy number variations, and structural rearrangements. In addition, maternal loss-of-function mutations CDKN1C found. Despite growing knowledge on BWS pathogenesis, up to 20% patients phenotype remain without diagnosis. Herein, we report an Iranian family two females affected different...
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)
Abstract The transport and Golgi organization 1 (TANGO1) family proteins have been shown to play pivotal roles in the secretory pathway. Full length TANGO1 is a transmembrane protein localised at endoplasmic reticulum exit sites (ERES), where it binds bulky cargo within ER lumen recruits membranes from intermediate compartment (ERGIC) create an route for their export. Tango1 knockout mice display global collagen secretion defect perinatal lethality. Here we report first TANGO1-associated...
Trotz der rasanten Entwicklung molekulargenetischer Analysemethoden sind die Ausloser vieler Erbrankheiten bislang ungeklart. Eine Identifikation genetischen Ursache einer Erkrankung ist jedoch essenziell, um zusatzliche invasive Tests vermeiden, adaquate Therapiemasnahmen in Wege leiten, akkurate Prognosen stellen und eine entsprechende genetische Beratung anbieten zu konnen. Next Generation Sequencing (NGS)-basierte Techniken wie Whole Exome Sequenzierung (WES) haben humangenetische...