About
Contact & Profiles
A5050136230
Research Areas
- Congenital heart defects research
- Congenital Heart Disease Studies
- RNA modifications and cancer
- Tissue Engineering and Regenerative Medicine
- Genetic and Kidney Cyst Diseases
- Cardiac Valve Diseases and Treatments
Indiana University School of Medicine
2022-2024
Indiana University – Purdue University Indianapolis
2022-2024
Abstract FOXJ1 is expressed in ciliated cells of the airways, testis, oviduct, central nervous system and embryonic left–right organizer. Ablation or targeted mutation Foxj1 mice, zebrafish frogs results loss ciliary motility and/or reduced length number motile cilia, affecting establishment axis. In humans, heterozygous pathogenic variants cause ciliopathy leading to situs inversus, obstructive hydrocephalus chronic airway disease. Here, we report a novel truncating variant (c.784_799dup;...
10.1093/hmg/ddad065
article
EN
Human Molecular Genetics
2023-05-09
10.1016/j.xhgg.2024.100353
article
EN
cc-by-nc-nd
Human Genetics and Genomics Advances
2024-09-12
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