Ciliary syndromes and treatment.
Abnormal visceral patterning has been known for centuries. However, it has not been associated with ciliary dysfunction until recently. Overlapping clinical entities including situs inversus, certain infertility disorders, as well as chronic respiratory infections have their roots in abnormal ciliary function. Current research focuses on causative factors and genes involved in signal transduction pathways that define ciliary function and structure, as well as treatment. In this review, attempts are made to outline selected, yet key topics related to ciliary function in health and disease.
Klysik
Michal
M
Texas Tech University Health Science Center, 4800 Alberta Ave, El Paso, TX 79905, USA. Michal.Klysik@ttuhsc.edu
D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000473:pathology / Q000628:therapy; D019521:Body Patterning; D002923:Cilia / Q000473:pathology*; D002925:Ciliary Motility Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology / Q000628:therapy; D007248:Infertility, Male / Q000473:pathology / Q000628:therapy; D007619:Kartagener Syndrome / Q000473:pathology / Q000628:therapy; D008297:Male; D051379:Mice; D009958:Orofaciodigital Syndromes / Q000473:pathology / Q000628:therapy; D007690:Polycystic Kidney Diseases / Q000473:pathology / Q000628:therapy; D012174:Retinitis Pigmentosa / Q000473:pathology / Q000628:therapy; D013082:Sperm Tail / Q000473:pathology*