Results 251 to 260 of about 573,457 (326)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

RetINaBox: A Hands-On Learning Tool for Experimental Neuroscience. [PDF]

eNeuro
Bettler B, Arias Armas F, Cianfarano E, Bordonaro V, Liu MQ, Loukine M, Wan M, Villemain A, Richards BA, Trenholm S.   +9 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Transconjunctival suprachoroidal buckling for rhegmatogenous retinal detachment. [PDF]

Int J Retina Vitreous
El Rayes EN, Al Tayyar A, Gotzaridis S, Hsieh YT.   +3 more
europepmc   +1 more source

Localization of the calcium‐binding protein secretagogin in cone bipolar cells of the mammalian retina

, 2009
Teresa Puthussery, Jacqueline Gayet‐Primo, W. Rowland Taylor   +2 more
openalex   +2 more sources

Insights into organelle forming RNAs: Diversity, functions and future perspectives

Animal Models and Experimental Medicine, EarlyView.
RNA molecules play crucial roles in the formation and maintenance of cellular structures and organelles. These ‘organelle formation RNAs’ include ribosomal RNAs, paraspeckle‐forming RNAs, nuclear speckle‐forming RNAs, nucleolus‐forming RNAs, and cytoskeleton‐forming RNA.
Meng Gong, Xiangting Wang, Xiaolin Liang
wiley   +1 more source

The complexity of dementia development and its comorbidities: The collaborative cross‐mouse population for multivarious tasks approach

Animal Models and Experimental Medicine, EarlyView.
The increasing prevalence of dementia and related neurodegenerative diseases—including Alzheimer's disease, Parkinson's disease, multiple sclerosis, and amyotrophic lateral sclerosis—poses a growing public health challenge. These conditions have traditionally been studied as isolated central nervous system disorders, but emerging evidence points to ...
Osayd Zohud, Iqbal M. Lone, Kareem Midlej, Fuad A. Iraqi   +3 more
wiley   +1 more source

Retinal Degeneration in Alzheimer's Disease 5xFAD Mice Fed DHA-Enriched Diets. [PDF]

Cells
Pinho MS, Ahfaz H, Carvalho S, Correia J, Spínola M, Pestana JM, Bandarra NM, Lopes PA.   +7 more
europepmc   +1 more source

CORRECTION OF ISCHEMIC DAMAGE TO THE RETINA ON APPLICATION OF PHARMACOLOGICAL PRECONDITIONING OF RECOMBINANT ERYTHROPOIETIN

, 2016
A.S. Shabelnikova
openalex   +2 more sources

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source