Results 91 to 100 of about 9,217 (165)

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

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

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Systematic use of protein free energy changes for classifying variants of uncertain significance: the case of IFT140 in Mainzer-Saldino Syndrome

Frontiers in Molecular Biosciences
IntroductionAdvanced genetic strategies have transformed our understanding of the genetic basis and diagnosis of many phenotypes, including rare diseases.
Macarena Gajardo, José Luis Guerrero, Bárbara Poblete, Esperanza Bayyad, Ignacio Castro, Jorge Maturana, Jaime Tobar, Víctor Faúndes, Paola Krall, Paola Krall, Paola Krall   +10 more
doaj   +1 more source

Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks

, 2014
BACKGROUND: Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases termed ciliopathies.
HR Dawe (21822902), KS Renzaglia (16330170), K Fry (16417863), AR Barker (15431951)   +3 more
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Targeting E3 Ubiquitin Ligases and Deubiquitinases in Ciliopathy and Cancer

Cilia are antenna-like structures present in many vertebrate cells. These organelles detect extracellular cues, transduce signals into the cell, and play an essential role in ensuring correct cell proliferation, migration, and differentiation in a ...
Nishimura, Yuhei, Matsui, Takaaki, Yuge, Mizuki, Shiromizu, Takashi, Kasahara, Kousuke, Bessho, Yasumasa, Yamakawa, Daishi, Inagaki, Masaki   +7 more
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Bardet–Biedl syndrome: A case report

Annals of Medical Science and Research
Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal ...
Aakash Pandey, Prashasti Gupta, Priya Bansal, Ramesh Aggarwal, Motilal Negi   +4 more
doaj   +1 more source

Super-Resolution Fluorescence Microscopy for Cilia Investigation and Ciliopathy Diagnosis (Invited)

The last two decades have witnessed the invention and development of super-resolution microscopy (SRM) that breaks the diffraction limit of light and pushes the fluorescence microscopy resolution to several nanometers.
Zhen, Liu, Yang, Wu
core   +1 more source

A functional and therapeutic investigation of ciliopathy proteins and ciliopathies .

This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The ciliopathies form a class of genetic diseases whose aetiology lies in the primary cilium. Over 30 genes have been identified as
Tobin, J.
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