A5062319026- Congenital Ear and Nasal Anomalies
- Tracheal and airway disorders
- Pregnancy and preeclampsia studies
- Vascular Malformations and Hemangiomas
- Cardiovascular Effects of Exercise
- Radiopharmaceutical Chemistry and Applications
- Otitis Media and Relapsing Polychondritis
- Salivary Gland Tumors Diagnosis and Treatment
- Congenital heart defects research
- Muscle Physiology and Disorders
- Reproductive System and Pregnancy
- Estrogen and related hormone effects
- Genetic Neurodegenerative Diseases
- Tumors and Oncological Cases
- Congenital Diaphragmatic Hernia Studies
- Hedgehog Signaling Pathway Studies
- Immunodeficiency and Autoimmune Disorders
University of Groningen
2013-2021
University Medical Center Groningen
2013-2021
California State Polytechnic University
2016
Mutations in CHD7 are the major cause of CHARGE syndrome, an autosomal dominant disorder with estimated prevalence 1/15,000. We have little understanding disruptions developmental programme that underpin brain defects associated this syndrome. Using mouse models, we show Chd7 haploinsufficiency results reduced Fgf8 expression isthmus organiser (IsO), embryonic signalling centre directs early cerebellar development. Consistent observation, and loss-of-function alleles interact during...
CHARGE syndrome is a variable, multiple congenital malformation syndrome. Patients with have frequent infections that are presumed to be due anatomical anomalies of the craniofacial region and upper airway, cranial nerve problems resulting in swallowing difficulties aspiration. The possible contribution immunological abnormalities these has not been systematically studied even though immune deficiencies described patients 22q11.2 deletion syndrome, condition which shares remarkable clinical...
Huntington’s disease (HD) patients suffer from progressive and debilitating motor dysfunction. Previously, we discovered reduced skeletal muscle chloride channel (ClC-1) currents, inwardly rectifying potassium (Kir) membrane capacitance in R6/2 transgenic HD mice. The ClC-1 loss-of-function correlated with increased aberrant mRNA processing decreased levels of full-length (Clcn1 gene). Physiologically, the resulting hyperexcitability may help explain involuntary contractions HD. In this...
CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates expression Sema3a, which also contributes to pathogenesis Kallmann syndrome, a heterogeneous condition with typical features hypogonadotropic hypogonadism and impaired sense smell. Both are common suggesting that SEMA3A may provide genetic link between these syndromes. Indeed, we find evidence plays role syndrome. First, enriched at...
Abstract CHARGE syndrome is an autosomal dominant malformation disorder caused by pathogenic variants in the chromatin remodeler CHD7. Affected are craniofacial structures, cranial nerves and multiple organ systems. Depending on combination of malformations present, its distinction from other congenital disorders can be challenging. To gain a better insight into regulatory disturbances syndrome, we performed RNA-Seq analysis blood samples 19 children with confirmed disease-causing CHD7...