Results 31 to 40 of about 29,474 (200)

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Unilateral retinitis pigmentosa [PDF]

Clinical and Experimental Optometry, 2010
Retinitis pigmentosa is a group of hereditary disorders, the common feature of which is a progressive deterioration in vision due to degeneration of the retina.
Ajit, Thakur, Lila, Puri
openaire   +2 more sources

Smart Nanotechnologies for Multimodal Neuromodulation and Brain Interfacing

Advanced Science, EarlyView.
Recent advances in smart nanotechnologies are expanding the toolbox for brain interfacing, from wireless neuromodulation and high‐resolution sensing to targeted delivery within the central nervous system. By combining responsive nanomaterials with bioinspired design, these platforms enable multimodal interactions with neurons and glia, while also ...
Tommaso Curiale, Marie Celine Lefevre, Alessio Carmignani, Maria Cristina Ceccarelli, Matteo Battaglini, Attilio Marino, Gianni Ciofani   +6 more
wiley   +1 more source

Explainable AI‐Driven Optimization of Electrode Activation Reduces Power Consumption While Preserving Object Recognition in Retinal Prostheses

Advanced Intelligent Systems, EarlyView.
Explainable artificial intelligence (XAI) guides selective electrode activation in retinal prostheses by emphasizing visually informative regions. XAI‐assisted phosphene generation maintains object recognition performance while significantly reducing stimulation power.
Sein Kim, Hamin Shim, Maesoon Im
wiley   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Macular Hole of the Left Eye in a 41-year-old Patient with Retinitis pigmentosa. A Case Report

Okulistyka
Retinitis pigmentosa is characterized by degeneration of the photoreceptors or retinal pigment epithelium and causes progressive vision loss. The disease can lead to night blindness, reduced field of vision and finally to complete loss of vision.
Bożena Kmak, Tomasz Siewierski, Anna Szot, Sebastian Sirek   +3 more
doaj   +1 more source

Anatomical and functional correlates of cystic macular edema in retinitis pigmentosa.

PLoS ONE, 2022
Cystoid macular edema (CME) is a major cause of central visual deterioration in retinitis pigmentosa. The exact reason for CME and its prognostic significance in this patient population is unknown.
Adam Ruff, Alangoya Tezel, Tongalp H Tezel   +2 more
doaj   +1 more source

Modeling retinitis pigmentosa through patient-derived retinal organoids

STAR Protocols, 2021
Summary: Human-induced pluripotent stem cells (hiPSCs) can be differentiated into well-structured retinal organoids. In this protocol, we successfully established 3D retinae from patient-derived hiPSCs and built the retinitis pigmentosa model in vitro ...
Yan-Ping Li, Wen-Li Deng, Zi-Bing Jin
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source