Results 281 to 290 of about 409,228 (346)

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque, Giovanna Giovacchini dos Santos, Sara Hadj Sadok, Breno Bopp Antonello, Lorena Melo de Jesus, Maria Eduarda Andrade de Carvalho, Antonio Mutarelli, Paulo Victor Zattar Ribeiro   +7 more
wiley   +1 more source

Klotho null mutation leads to retinal degeneration characterized by functional impairment, gliosis, and deposition of amyloid-beta and hyperphosphorylated tau proteins. [PDF]

PLoS One
Chen ZJ, Wu CY, Hsiao FY, Ma JC, Lai G, Chang HH, Lin DP.   +6 more
europepmc   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Identifying the important involvement of cuproptosis in the pathophysiology of age-related macular degeneration. [PDF]

Eur J Med Res
Lei S, Liu Y.
europepmc   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Glutamine catabolism supports amino acid biosynthesis and suppresses the integrated stress response to promote photoreceptor survival. [PDF]

Elife
Goswami MT, Weh E, Subramanya S, Weh KM, Durumutla HB, Hager H, Miller N, Chaudhury S, Andren A, Sajjakulnukit P, Zhang L, Besirli C, Lyssiotis CA, Wubben TJ.   +13 more
europepmc   +1 more source

Establishment of a novel alloxan‐induced rabbit model exhibiting unique diabetic retinal neuropathy features assessed via ERG + VEP

Animal Models and Experimental Medicine, EarlyView.
Study workflow. Neuroretinal changes were observed in alloxan‐induced diabetic rabbits, while the retinal vasculature remained unaffected, indicating the successful establishment of a diabetic neuroretinal model. Abstract Background Diabetic retinal neuropathy (DRN) leads to significant visual impairment; however, no existing animal model fully ...
Xinlu Li, Xiaojing Dong, Defei Feng, Han Hu, Bai Li, Zhongjian Liu, Wei He, Chenchen Huang, Zhizhou Shi, Yan Mei   +9 more
wiley   +1 more source

Metabolic regulation of visual acuity. [PDF]

Sci Adv
Emery D, Vukmanic E, Wang Y, Eminhizer M, Wang F, Lu X, Wang W, Kini A, Chen Y, Fortuny E, James RF, Liu Y, Du J, Dean DC.   +13 more
europepmc   +1 more source

AI in Neurology: Everything, Everywhere, All at Once Part 1: Principles and Practice

Annals of Neurology, EarlyView.
Artificial intelligence (AI) is rapidly transforming healthcare, yet it often remains opaque to clinicians, scientists, and patients alike. This review, part 1 of a 3‐part series, provides neurologists and neuroscientists with a foundational understanding of AI's key concepts, terminology, and applications.
Matthew Rizzo, Jeffrey D. Dawson
wiley   +1 more source

Conditional Stabilization of the Hypoxia‐Inducible Factor HIF1α— Photoswitchable Stapled Peptides Prevent Elongin BC–Mediated Degradation

Angewandte Chemie, EarlyView.
Visible‐light photoswitchable peptides enable the stabilization of the hydroxylated hypoxia transcription factor 1α (HIF1α—OH) by targeting the pVHL‐EloBC interaction. Significant differences in conformation, binding, and transcription of HIF‐targeted genes between the photostationary states (PSS) were demonstrated.
Van Tuan Trinh, Sabrina Fischer, Lei Zhang, Heiko Geisler, Belen Pardo, Robert Liefke, Frank Abendroth, Olalla Vázquez   +7 more
wiley   +2 more sources