Results 41 to 50 of about 29,474 (200)

Amino acids in retinitis pigmentosa

Indian Journal of Ophthalmology, 1988
Retinitis pigmentosa may be associated with amino acid′ disorders; whether the association is incidental or consequential is not known. The present investigation on amino acids in retinitis pigmentosa indicates that the level of plasma amino acids
Singh M
doaj  

A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration

Nature Communications, 2018
Mutations that lead to misfolding of rhodopsin can cause retinitis pigmentosa. Here, the authors carry out a high throughput screen to identify a small molecule chaperone of rod opsin, and show that it protects mouse models of retinitis pigmentosa from ...
Yuanyuan Chen, Yu Chen, Beata Jastrzebska, Marcin Golczak, Sahil Gulati, Hong Tang, William Seibel, Xiaoyu Li, Hui Jin, Yong Han, Songqi Gao, Jianye Zhang, Xujie Liu, Hossein Heidari-Torkabadi, Phoebe L. Stewart, William E. Harte, Gregory P. Tochtrop, Krzysztof Palczewski   +17 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

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Unilateral retinitis pigmentosa and cone-rod dystrophy

Clinical Ophthalmology, 2009
Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
doaj  

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

Developmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick, Lorraine Eley, Deborah J. Henderson, Bill Chaudhry   +3 more
wiley   +1 more source

Retinitis pigmentosa and congenital toxoplasmosis: A rare coexistence

Indian Journal of Ophthalmology, 2007
We describe a previously unreported co-existence of retinitis pigmentosa and congenital toxoplasmosis. An eight year old male presented to our center with complaints of decreased night vision.
Chhabra Manpreet, Prakash Gunjan, Vashisht Nagender, Garg S   +3 more
doaj  

Autoimmune encephalitis associated with antibodies against α-enolase sequestrated from degenerating retina in retinitis pigmentosa

BMC Ophthalmology
Background Retinitis pigmentosa is a group of inherited retinal degenerations resulting in photoreceptor cell dysfunction, death, and eventually vision loss.
Qun Zeng, Jin Ming Lin, Androniki Syrrou, Onur İnam, Sarah Flanagan Wesley, Tongalp H. Tezel   +5 more
doaj   +1 more source

Foundation Models in Diagnosis of Ophthalmic Diseases: Construction and Application

Eye &ENT Research, EarlyView.
ABSTRACT Artificial intelligence holds promise for addressing the uneven distribution of medical resources across different regions. Compared with convolutional neural network models, foundation models offer significant advantages: on one hand, their pre‐training does not rely on massive labeled data; on the other hand, they possess the capability to ...
Xiaolu Huang, Guanran Zhang, Jiayu Xu, Shuyang Chen, Yanrong Li, Xiaodong Sun, Yanlin Qu, Huixun Jia   +7 more
wiley   +1 more source

Generation of a human iPSC line (BTHBIOi001-A) from a retinitis pigmentosa patient with CNGA1 gene mutation

Stem Cell Research
Retinitis pigmentosa (RP) is a group of inherited retinal disorders caused by genetic mutations, leading to progressive photoreceptors degeneration and eventual blindness. Mutations in CNGA1 can cause autosomal recessive retinitis pigmentosa (ARRP). Here,
Ying Wang, Yan-Li Wang, Ming-Xia Du, Zi-Bing Jin, Xiao Zhang   +4 more
doaj   +1 more source