Results 41 to 50 of about 326,550 (228)

The Treatment of Congenital Glaucoma [PDF]

British Journal of Ophthalmology, 1950
THIS series comprises foturteen cases, in which 2F') eyes were operated on. The timile over which the eyes were under observation after operation varied from seven years to twxo miontlhs. Tlihree of the cases were reported in a previous coimniunicatioin (M\IcA.revev, 1948); their subsequenit history is now followsed up.
openaire   +2 more sources

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

An investigation of genetic risk factors in primary open-angle glaucoma [PDF]

, 2009
Primary open-angle glaucoma (POAG) is a multifactorial disease with a strong genetic component. Notably however, few genes have been robustly associated with POAG in the general population.
Park, S.
core  

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Pattern of Childhood Glaucoma

Journal of Nepal Medical Association, 2013
Glaucoma is one of the important causes of blindness in children all over the world1 . Childhood glaucoma encompasses a wide variety of conditions ranging from primary congenital glaucoma to different acquired varieties.
S Shakya, S Koirala, E Pradhan
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Engineering mRNA‐LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases

Exploration, EarlyView.
This review highlights recent advances in engineering messenger RNA (mRNA)‐lipid nanoparticles (LNPs) to cross the ageing blood–brain barrier and target neurodegenerative diseases. It outlines design principles, delivery routes, and translational challenges, charting a roadmap towards clinical application of mRNA‐LNP therapeutics for neurodegenerative ...
Abdel Ali Belaidi, Denzil L. Furtado, Francesca Alves, Rebecca M. Nisbet, Scott Ayton, Ashley I. Bush   +5 more
wiley   +1 more source

Glaucoma awareness [PDF]

, 2009
This thesis investigates three different aspects of glaucoma awareness using both quantitative and qualitative methods. Patient Awareness: This qualitative study looked at patients perceptions of glaucoma.
Baker, H., Baker, H
core  

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

First episode psychotic disorder possibly associated with acetazolamide in a male adolescent with congenital glaucoma [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2015
Primer congenital glaucoma is an uncommon ophthalmological disease manifesting at birth and accounting for 0.01-0.04% of total blindness. Acetozalamide, a carbonic anhydrase inhibitor is one of the options in the medical treatment of glaucoma and acute ...
ozhan yalcin
doaj