Results 91 to 100 of about 12,876 (273)

Surgical Management of Kartagener's Syndrome With Bronchiectasis in a Pediatric Patient: A Case Report on Right Lower Lung Lobectomy in a 9‐Year‐Old Female

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Kartagner syndrome is a rare congenital autosomal recessive disorder of ciliary movement, characterized by triad of chronic sinusitis, situs inversus and bronchiectasis leading to recurrent chest and sinuses infections. The primary objectives of this case report is to highlight the presentation of this rare disorder, its surgical challenge ...
Pakeezah Tabasum, Makhdooom Bilawal, Priya Devi, Waseem Sajjad, Ali Raza Brohi, Mohammed Hammad Jaber Amin   +5 more
wiley   +1 more source

Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis

Cells, 2019
Loss-of-function mutations in the human ICK (intestinal cell kinase) gene cause dysfunctional primary cilia and perinatal lethality which are associated with human ciliopathies.
Yoon Seon Oh, Eric J. Wang, Casey D. Gailey, David L. Brautigan, Benjamin L. Allen, Zheng Fu   +5 more
doaj   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +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

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

A Rare Case of Prenatal Short‐Rib Thoracic Dysplasia 11 Subtype With Compound Heterozygous Variants in the DYNC2I2 Gene: Presenting Polydactyly and Shortened Limbs

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT DYNC2I2‐related Short‐Rib Thoracic Dysplasia 11 can present prenatally with prominent limb shortening and polydactyly as the primary ultrasound findings, while classic thoracic abnormalities may be subtle. This case highlights the condition's clinical heterogeneity and underscores the importance of genetic testing for accurate diagnosis and ...
Zhihui Wang, Heqin Guan, Ximei Li, Jielan Liao, Yong Pan, Xueqin Dong, Xutao Hong   +6 more
wiley   +1 more source

Ciliopathies: an expanding disease spectrum [PDF]

Pediatric Nephrology, 2011
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal ...
Waters, Aoife M., Beales, Philip L.
openaire   +2 more sources

Wnt Signaling Pathway: Biological Function, Diseases, and Therapeutic Interventions

MedComm, Volume 7, Issue 1, January 2026.
The Wnt signaling pathway is essential for development and tissue homeostasis, while its dysregulation drives diverse diseases. This review systematically outlines its components, functions, regulators, and preclinical models, highlighting secreted frizzled‐related proteins (SFRPs) as context‐dependent, biphasic modulators.
Xiaoyu Jin, Jiahui Wang, Runyi Cao, Dongsheng Jiang   +3 more
wiley   +1 more source

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development [PDF]

, 2020
Laura Powell, Miguel Barroso‐Gil, Gavin J. Clowry, Laura A. Devlin, Elisa Molinari, Simon A. Ramsbottom, Colin G. Miles, John A. Sayer   +7 more
openalex   +1 more source

Inducible Ift88‐deficient mice show features consistent with mild pulmonary hypertension

Physiological Reports, Volume 14, Issue 2, January 2026.
Abstract Intraflagellar transport protein 88 (IFT88) is essential for primary and motile cilia formation. In murine models and humans, Ift88 mutations contribute to renal cysts, epithelial proliferation and impaired immune responses. In mice, Ift88 knockout (KO) reduces airway cilia, increases airway epithelial proliferation and hyperreactivity ...
Selina M. Garcia, Benjamin J. Lantz, Helen J. Wagner, David T. Jones, Rene Arechiga‐Gonzalez, Tamara A. Howard, Sana Gul, Terry H. Wu, Thomas F. Byrd, Olivia C. Heath, Laura V. Gonzalez Bosc   +10 more
wiley   +1 more source