Results 111 to 120 of about 11,932 (230)

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 985-988, April 2026.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

Cranioectodermal dysplasia: A probable ciliopathy

American Journal of Medical Genetics Part A, 2009
AbstractCranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end‐stage renal failure.
Konstantinidou, A.E., Fryssira, H., Sifakis, S., Karadimas, C., Kaminopetros, P., Agrogiannis, G., Velonis, S., Nikkels, P.G.J., Patsouris, E.   +8 more
openaire   +3 more sources

Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants

Molecular Genetics & Genomic Medicine
Background Nephronophthisis (NPHP) is a genetically heterogeneous disease that can lead to end‐stage renal disease (ESRD) in children. The TTC21B variant is associated with NPHP12 and mainly characterized by cystic kidney disease, skeletal malformation ...
Yingying Li, Liying Dai, Hong Xu, Jin Huang, Jinqiu Zhang, Zhenzhu Mei, Rui Zhang   +6 more
doaj   +1 more source

Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors [PDF]

, 2017
Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of environmental signals such as light sensation in photoreceptors.
Bachmann-Gagescu, Ruxandra, Barmettler, Gery, Forbes, Austin, Gesemann, Matthias, Mateos, José M, Neuhauss, Stephan C F, Ojeda Naharros, Irene, Ziegler, Urs   +7 more
core   +1 more source

Translational Retinal Research and Therapies. [PDF]

, 2018
The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D, Beltran, William A, Cideciyan, Artur V, Flannery, John G, Hardcastle, Alison J, Jacobson, Samuel G, Sahel, José-Alain, Sieving, Paul A   +7 more
core   +1 more source

Senior- Loken Syndrome – A Ciliopathy

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2014
Senior - Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto - retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe renal failure requiring hemodialysis.
openaire   +3 more sources

Ophthalmologic Manifestations in Bardet–Biedl Syndrome: Emerging Therapeutic Approaches

Medicina
Bardet–Biedl syndrome (BBS) is a rare multisystem ciliopathy characterized by early-onset retinal degeneration and other vision-threatening ophthalmologic manifestations. This review synthesizes current knowledge on the ocular phenotype of BBS as well as
Amaris Rosado, Ediel Rodriguez, Natalio Izquierdo   +2 more
doaj   +1 more source

Identification and bioinformatics analysis of cilia-associated gene families in Euplotes amieti (Ciliophora, Hypotrichia)

Frontiers in Microbiology
IntroductionCiliates serve as pivotal model organisms for investigating the protein composition and regulatory mechanisms underlying cellular processes. This study systematically explores the structural and functional characteristics of cilia-associated ...
Liheng Shen, Xiaobing Xiong, Zixiang Xu, Yingli Liu, Yan Sheng, Xin Sheng   +5 more
doaj   +1 more source

Radial Spokes-A Snapshot of the Motility Regulation, Assembly, and Evolution of Cilia and Flagella [PDF]

, 2016
Propulsive forces generated by cilia and flagella are used in events that are critical for the thriving of diverse eukaryotic organisms in their environments. Despite distinctive strokes and regulations, the majority of them adopt the 9+2 axoneme that is
Liu, Yi, Yang, Pinfen, Zhu, Xiaoyan
core   +1 more source

CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology

Kidney International Reports
Introduction: Chronic kidney disease (CKD) is a critical prognostic factor in Bardet-Biedl syndrome (BBS). Early diagnosis and intervention are essential for improving patient outcomes.
Miriam Zacchia, Floriana Secondulfo, Andrea Melluso, Francesca Del Vecchio Blanco, Valentina Di Iorio, Anna Laura Torella, Giulio Piluso, Giovanna Capolongo, Francesco Trepiccione, Francesca Simonelli, Vincenzo Nigro, Alessandra Perna, Giovambattista Capasso   +12 more
doaj   +1 more source