Results 271 to 280 of about 4,716,718 (371)

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

American Journal of Human Genetics, 2013
R. Hjeij, A. Lindstrand, Richard Francis, M. Zariwala, Xiaoqin Liu, You Li, R. Damerla, G. Dougherty, Marouan Abouhamed, H. Olbrich, N. Loges, P. Pennekamp, E. Davis, C. Carvalho, D. Pehlivan, C. Werner, J. Raidt, G. Köhler, K. Häffner, M. Reyes-Múgica, J. Lupski, M. Leigh, M. Rosenfeld, L. Morgan, M. Knowles, C. Lo, N. Katsanis, H. Omran   +27 more
semanticscholar   +1 more source

Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling

Cell Proliferation, EarlyView.
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava, Sidharth Bhasin, Poonam Sharma, Omkar Mahadeo Desai, Kshitiz Yadav, Ayushma, Rohan Chakraborty, Suhel Parvez, Rajesh Ramachandran, Shilpi Minocha   +9 more
wiley   +1 more source

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.

American Journal of Human Genetics, 2012
H. Olbrich, M. Schmidts, C. Werner, A. Onoufriadis, N. Loges, J. Raidt, N. Bánki, A. Shoemark, T. Burgoyne, Saeed H. Al Turki, M. Hurles, G. Köhler, J. Schroeder, G. Nürnberg, P. Nürnberg, E. Chung, R. Reinhardt, J. Marthin, K. Nielsen, H. Mitchison, H. Omran   +20 more
semanticscholar   +1 more source

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source

CRISPR-Cas9-mediated deletion of carbonic anhydrase 2 in the ciliary body to treat glaucoma. [PDF]

Cell Rep Med
Jiang J, Kong K, Fang X, Wang D, Zhang Y, Wang P, Yang Z, Zhang Y, Liu X, Aung T, Li F, Yu-Wai-Man P, Zhang X.   +12 more
europepmc   +1 more source

Endoscopically assessed mucus parameters in equine asthma: Relationship to clinical history and cytological findings data

Equine Veterinary Journal, EarlyView.
Abstract Background Mucus parameters are hallmark diagnostic features of equine asthma (EA). Objectives To investigate the relationship between mucus quantity score and mucus viscosity score with signalment, history, clinical findings and cytological parameters. Study Design Retrospective cross‐sectional study.
Julia Drespling, Leonie Berwanger, Heike Kühn, Bianca Schwarz, Marcus Doherr, Lars Mundhenk   +5 more
wiley   +1 more source

An advanced case of pediatric ciliary body medulloepithelioma with detailed literature review. [PDF]

Int J Surg Case Rep
Alsulaiman HM, AlThaqib R, Maktabi AMY, Alkatan HM, Elkhamary SM, Schellini SA.   +5 more
europepmc   +1 more source

Lung organoids as a human system for Mycobacteria infection modeling and drug testing

The FEBS Journal, EarlyView.
Mycobacterial infections, including tuberculosis (TB) and infections by nontuberculous mycobacteria (NTM), are still public health issues. In 2023, TB caused 1.25 million deaths, while NTM remain a clinical challenge for patients with cystic fibrosis (CF).
Stephen Adonai Leon‐Icaza, Romain Vergé, Raoul Mazars, Laurence Berry, Céline Cougoule   +4 more
wiley   +1 more source

Dataset Supporting Publication Entitled: Kiaa0556 Is A Novel Ciliary Basal Body Component Mutated In Joubert Syndrome

, 2015
Awm Sanders, Erik de Vrieze, Anas M. Alazami, EB Malarkey, Stefanie Kuhns, BK Yoder, Erwin van Wijk, Fowzan S. Alkuraya, OE Blacque   +8 more
openalex   +1 more source

A 66‐year‐old man with acute retinal necrosis

Brain Pathology, EarlyView.
Shino Magaki, Fausto J. Rodriguez, Matthew Koo, Colin A. McCannel   +3 more
wiley   +1 more source