Results 141 to 150 of about 9,301 (255)

Making sense of cilia in disease: The human ciliopathies [PDF]

, 2009
Kate Baker, Philip L. Beales
openalex   +1 more source

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations [PDF]

, 2023
Ciliopathies are inherited disorders caused by defective cilia. Mutations affecting motile cilia usually cause the chronic muco-obstructive sinopulmonary disease primary ciliary dyskinesia (PCD) and are associated with laterality defects, while a broad ...
Beyer, Tina, Boldt, Karsten, Fassad, Mahmoud R, Goggin, Patricia, Junger, Katrin, Lucas, Jane S, Mitchison, Hannah M, Patel, Mitali P, Rumman, Nisreen, Thompson, James, Ueffing, Marius   +10 more
core  

Liver and kidney disease in ciliopathies [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2009
AbstractHepatorenal fibrocystic diseases (HRFCDs) are among the most common inherited human disorders. The discovery that proteins defective in the autosomal dominant and recessive polycystic kidney diseases (ADPKD and ARPKD) localize to the primary cilia and the recognition of the role these organelles play in the pathogenesis of HRFCDs led to the ...
openaire   +3 more sources

Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients

Frontiers in Molecular Biosciences
The heterodimeric kinesin-2 motor (KIF3A/KIF3B with accessory protein KAP3) drives intraflagellar transport, essential for ciliogenesis and ciliary function. Three point mutations in the KIF3B subunit have recently been linked to disease in humans (E250Q
Jessica M. Adams, Caleb Sawe, Skye Rogers, Jordyn Reid, Ronith Dasari, Martin F. Engelke   +5 more
doaj   +1 more source

MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome [PDF]

, 2009
Meral Gunay‐Aygun, Melissa A. Parisi, Dan Doherty, M. Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Barış Türkbey, Peter L. Choyke, Lisa M. Guay‐Woodford, Theo Heller, Katarzyna Szymańska, Colin A. Johnson, Ian Glass, William A. Gahl   +14 more
openalex   +1 more source

De novo and inherited micro-CNV at 16p13.11 in 21 Chinese patients with defective cardiac left-right patterning

Frontiers in Genetics
ObjectiveCopy number changes at Chromosomal 16p13.11 have been implicated in a variety of human diseases including congenital cardiac abnormalities. The clinical correlation of copy number variants (CNVs) in this region with developmental abnormalities ...
Kun Yu, Weicheng Chen, Yan Chen, Libing Shen, Boxuan Wu, Yuan Zhang, Xiangyu Zhou   +6 more
doaj   +1 more source

Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Indian Journal of Ophthalmology, 2016
Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya   +3 more
doaj   +1 more source

RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies [PDF]

, 2009
Loubna El Zein, Aouatef Ait‐Lounis, Laurette Morlé, J. Thomas, Brigitte Chhin, Nathalie Spassky, Walter Reith, Bénédicte Durand   +7 more
openalex   +1 more source

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies [PDF]

, 2017
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies.
Alamro, Rana, Alkuraya, Fowzan S., Almoisheer, Agaadir, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L., Faqeih, Eissa, Hashem, Amal, Holder, Isabel, Lausch, Ekkehart, Mitchison, Hannah M., Schmidts, Miriam, Shaheen, Ranad, Superti-Furga, Andrea   +13 more
core  

Novel homozygous mutations in TXNDC15 causing Meckel syndrome

Molecular Genetics & Genomic Medicine
Background Meckel syndrome (MKS) is the most severe form of an autosomal recessive ciliopathy and is clinically characterized by occipital encephalocele, severely polycystic kidneys, and postaxial polydactyly (toes).
Tianqin Deng, Yuli Xie
doaj   +1 more source