نتائج البحث

Fine-tuning FAM161A gene augmentation therapy to restore retinal function.

• Authors : Arsenijevic, Y.; Chang, N.; Mercey, O.

Subjects: Animals; Mice; Humans

• Source: EMBO molecular medicine, vol. 16, no. 4, pp. 805-822

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Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.

• Authors : Conti, G.M.; Vaclavik, V.; Rivolta, C.

Subjects: Humans; Retrospective Studies; Male

• Source: Ophthalmic research, vol. 67, no. 1, pp. 172-182

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A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31

• Authors : Grainok, Janya; Pitout, Ianthe L; Chen, Fred K

Subjects: Codon; Nonsense; Eye Proteins - genetics

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The role of phosphorylation in calmodulin-mediated gating of human AQP0

• Authors : Kreida, Stefan; Roche, Jennifer Virginia; Missel, Julie Winkel

Subjects: Animals; Humans; Aquaporins/genetics

• Source: Kreida , S , Roche , J V , Missel , J W , Al-Jubair , T , Hagströmer , C J , Wittenbecher , V , Linse , S , Gourdon , P & Törnroth-Horsefield , S 2024 , ' The role of phosphorylation in

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A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.

• Authors : Ullah, M.; Rehman, A.U.; Folcher, M.

Subjects: Humans; DNA Mutational Analysis; Retinitis Pigmentosa/diagnosis

• Source: Ophthalmic research, vol. 66, no. 1, pp. 878-884

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Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management.

• Authors : Daich Varela, M.; Conti, G.M.; Malka, S.

Subjects: Humans; Infant; Child

• Source: Ophthalmology, vol. 130, no. 12, pp. 1327-1335

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CRB1-Associated Retinal Dystrophies: A Anticipation of Future Clinical Trials: A Prospective Natural History Study in Anticipation of Future Clinical Trials

• Authors : Nguyen, Xuan Thanh An; Talib, Mays; van Schooneveld, Mary J. ...

Subjects: Electroretinography; Eye Proteins/genetics; Humans

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A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.

• Authors : Nishiguchi, K.M.; Miya, F.; Mori, Y.

Subjects: Animals; Asian People/genetics; Case-Control Studies

• Source: Communications biology, vol. 4, no. 1, pp. 140

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Molecular genetics of inherited retinal degenerations in Icelandic patients

• Authors : Thorsteinsson, Daniel A.; Stefánsdóttir, Vigdís Fjóla; Eysteinsson, Þór ...

Subjects: Augnsjúkdómar; Arfgengi; Erfðafræði

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Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.

• Authors : Rehman, A.U.; Sepahi, N.; Bedoni, N.

Subjects: Consanguinity; DNA Mutational Analysis; Eye Diseases

• Source: Scientific reports, vol. 11, no. 1, pp. 19332

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