Centrosome and ciliary abnormalities in fetal akinesia deformation sequence human fibroblasts
نویسندگان
چکیده
منابع مشابه
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence.
OBJECTIVE To present the appearance of the fetal akinesia deformation sequence by three-dimensional ultrasonography after four-dimensional ultrasonographic scanning. METHODS Three-dimensional surface-rendering images were used to show the fixed postural abnormalities of the fetal extremities and body. Four-dimensional ultrasonography was used to show that the postural abnormalities were fixed...
متن کاملFetal akinesia deformation sequence: a case report and review of literature
Fetal Akinesia Deformation Sequence (FADS) is a condition characterised by decreased fetal movement (fetal akinesia), multiple joint contractures (arthrogryposis), facial anomalies, intrauterine growth restriction, pulmonary hypoplasia and other developmental abnormalities. These disorders are clinically and genetically heterogenous and its etiology remains unclear. This syndrome is rare and th...
متن کاملGermline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
INTRODUCTION Foetal akinesia deformation sequence syndrome (FADS) is a genetically heterogeneous disorder characterised by the combination of foetal akinesia and developmental defects which may include pterygia (joint webbing). Traditionally multiple pterygium syndrome (MPS) has been divided into two forms: prenatally lethal (LMPS) and non-lethal Escobar type (EVMPS) types. Interestingly, FADS,...
متن کاملCiliary abnormalities in respiratory disease.
One hundred and sixty seven children, ranging in age from 5 weeks to 16 years, with chronic upper or lower respiratory tract problems, or both, were investigated for ciliary dyskinesia. Abnormal ciliary function was found in 18 cases all of whom had chronic lower respiratory disease and most of whom also had upper respiratory problems. Fifteen of the 18 cases had reduced ciliary beat frequencie...
متن کاملCentrosome abnormalities in pancreatic ductal carcinoma.
The centrosome plays an important role in microtubule nucleation and organization, ensuring the establishment of cell polarity and balanced chromosome segregation. Recent studies have suggested that the loss of cell polarity and/or chromosome missegregation (aneuploidy) in human malignant tumors could result from defects in centrosome function. Using immunofluorescence analysis with an antibody...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2020
ISSN: 2045-2322
DOI: 10.1038/s41598-020-76192-1