Results 81 to 90 of about 7,870 (178)

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   +2 more sources

A family of congenital hepatic fibrosis and atypical retinitis pigmentosa

Clinics and Practice, 2015
Congenital hepatic fibrosis is a rare cause of portal hypertension and esophageal varices in children. We report cases of siblings with biopsy proven congenital hepatic fibrosis and with atypical retinitis pigmentosa.
Sunil Pawar, Vinay Zanwar, Ashok Mohite, Ravindra Surude, Pravin Rathi, Meenakshi Balasubramani   +5 more
doaj   +1 more source

Illumination of understudied ciliary kinases

Frontiers in Molecular Biosciences
Cilia are cellular signaling hubs. Given that human kinases are central regulators of signaling, it is not surprising that kinases are key players in cilia biology.
Raymond G. Flax, Peter Rosston, Peter Rosston, Cecilia Rocha, Brian Anderson, Jacob L. Capener, Thomas M. Durcan, David H. Drewry, David H. Drewry, Panagiotis Prinos, Alison D. Axtman   +10 more
doaj   +1 more source

Molecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78

Cells
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent sinopulmonary infections due to motile cilia defects. The disease is genetically heterogeneous, with abnormalities in structural ciliary proteins.
İlker Levent Erdem, Zeynep Bengisu Kaya, Pergin Atilla, Nagehan Emiralioğlu, Cemil Can Eylem, Emirhan Nemutlu, Uğur Özçelik, Halime Nayır Büyükşahin, Ayşenur Daniş, Elif Karakoç   +9 more
doaj   +1 more source

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

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

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

Ciliopathy

Nihon Shoni Jinzobyo Gakkai Zasshi, 2012
Nakanishi, Koichi, Yoshikawa, Norishige
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