Results 71 to 80 of about 62,604 (264)

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

NR2E3 loss disrupts photoreceptor cell maturation and fate in human organoid models of retinal development

The Journal of Clinical Investigation
While dysfunction and death of light-detecting photoreceptor cells underlie most inherited retinal dystrophies, knowledge of the species-specific details of human rod and cone photoreceptor cell development remains limited.
Nathaniel K. Mullin, Laura R. Bohrer, Andrew P. Voigt, Lola P. Lozano, Allison T. Wright, Vera L. Bonilha, Robert F. Mullins, Edwin M. Stone, Budd A. Tucker   +8 more
doaj   +1 more source

Targeting Apolipoprotein E4 rescues photoreceptor degeneration by inhibiting the disease-associated microglia activation in experimental retinal detachment

Journal of Neuroinflammation
Retinal detachment (RD) is a prevalent ocular disorder that leads to photoreceptor death and irreversible visual impairment. Following RD, microglia—the resident immune cells of the retina—become activated and participate in regulating inflammatory ...
Xiaomeng Li, Niannian Fan, Yuanye Yan, Mingxin Ren, Haomin Wu, Kai Dong   +5 more
doaj   +1 more source

Manipulation of the Recipient Retinal Environment by Ectopic Expression of Neurotrophic Growth Factors Can Improve Transplanted Photoreceptor Integration and Survival

Cell Transplantation, 2012
Degeneration of the neural retina is the leading cause of untreatable blindness in the developed world. Stem cell replacement therapy offers a novel strategy for retinal repair.
E. L. West, R. A. Pearson, Y. Duran, A. Gonzalez-Cordero, R. E. Maclaren, A. J. Smith, J. C. Sowden, R. R. Ali   +7 more
doaj   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

The temporal progression of retinal degeneration and early-stage idebenone treatment in the Pde6brd1/rd1 mouse model of retinal dystrophy

Scientific Reports
Photoreceptor cell death, primarily through apoptosis, related to retinal disorders like retinitis pigmentosa (RP), would result in vision loss. The pathological processes and crucial mutant conditions preceding photoreceptor cell demise are not well ...
Lei Zhang, Wei Liu, Hai-Yan Wang, Wei Qiang, Ru Wang, Zhi-Li Cui, Zuo-Ming Zhang   +6 more
doaj   +1 more source

Multicolor and Attenuated Light Intensity Responses in Protein Hydrogels Arising from Photoregulated Crosslink Dynamics

Angewandte Chemie International Edition, EarlyView.
A fully protein‐based hydrogel integrated two orthogonal photoreceptors to enable reversible manipulation of stiffness with red/far‐red light and irreversible gel‐sol transitions with green light. Unexpectedly, high‐intensity red light results in attenuated stiffening and dark‐adaptation, arising from increased crosslinking dynamics in the ...
Saskia Frank, Seraphine V. Wegner
wiley   +1 more source

Diacylglycerol kinase epsilon in bovine and rat photoreceptor cells. Light-dependent distribution in photoreceptor cells

Experimental Eye Research, 2013
The present study shows the selective light-dependent distribution of 1,2-diacylglycerol kinase epsilon (DAGKɛ) in photoreceptor cells from bovine and albino rat retina. Immunofluorescence microscopy in isolated rod outer segments from bleached bovine retinas (BBROS) revealed a higher DAGKɛ signal than that found in rod outer segments from dark-adapted
Natalini, Paola Marisel, Zulian, Sandra Edith, Ilincheta, Monica Graciela, Giusto, Norma Maria   +3 more
openaire   +3 more sources

Quantum Phenomena in Molecular and Biological Systems: A Decoherence‐Based Decision Framework With Falsifiable Predictions and a Failure‐Mode Taxonomy

Advanced Physics Research, EarlyView.
A physics‐grounded framework based on decoherence timescales (τ_dec vs τ_func), Markovian validity, and falsifiability criteria is applied across molecular systems to distinguish where quantum effects are necessary, marginal, or irrelevant. The analysis integrates quantum chemistry, biological quantum mechanisms, and quantum computing under a unified ...
Sarfaraz K. Niazi
wiley   +1 more source

Light‐Induced Anion Translocation to Control Helical Folding in an Artificial Communication System

Chemistry – A European Journal, EarlyView.
Anion‐induced helical folding of an oligomer is controlled indirectly and reversibly by light through anion uptake/release by a photoresponsive receptor. Thus, a light signal is processed into a chemical signal in a communication‐type three‐component supramolecular system.
Indigo M. Bekaert, Suchismita Saha, Julia Villalva, David Villarón, Maxime A. Siegler, Sander J. Wezenberg   +5 more
wiley   +1 more source