N. Smaoui
National Institutes of Health
11 Papers
195 Citations
N. Smaoui is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Gene & Retina. The author has an hindex of 8, co-authored 11 publications. Previous affiliations of N. Smaoui include GeneDx.
Chat about Author
Papers
RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.
Yong Zeng,Yuichiro Takada,Sten Kjellstrom,Kelaginamane Hiriyanna,Atsuhiro Tanikawa,Eric F. Wawrousek,N. Smaoui,Rafael C. Caruso,Ronald A. Bush,Paul A. Sieving +9 more
TL;DR: The RS-KO mouse mimics structural features of human X-linked juvenile retinoschisis with dissection through, and disorganization of, multiple retinal layers indicates that gene therapy is a viable strategy of therapeutic intervention even in the postdevelopmental adult stage of XLRS disease.
210
A Homozygous Splice Mutation in the HSF4 Gene Is Associated With an Autosomal Recessive Congenital Cataract
N. Smaoui,O. Beltaief,Sonia Benhamed,Ridha Mrad,Faouzi Maazoul,Ouertani A,Habiba Chaabouni,J. Fielding Hejtmancik +7 more
TL;DR: This is the first report describing association of an autosomal recessive cataract with the HSF4 locus on 16q21-q22 and the first description of HSF 4 splice variants in the lens showing that HSF3b is the major transcript.
115
The functional effect of pathogenic mutations in Rab escort protein 1.
Yuri V. Sergeev,N. Smaoui,R. Sui,David Stiles,N. Gordiyenko,N.V. Strunnikova,Ian M. MacDonald +6 more
TL;DR: A novel missense mutation, L550P; a truncation c.1542T>A, STOP; and two deletions in the CHM gene and their phenotypic effect are reported, which are associated with a partial or total loss of the REP-1 essential activity and protein-protein interactions as predicted by the analysis of the structure and stability of these protein products.
Choroideremia: Analysis of the retina from a Female Symptomatic Carrier
Vera L. Bonilha,Karmen M Trzupek,Yong Li,Peter J. Francis,Joe G. Hollyfield,Mary E. Rayborn,N. Smaoui,Richard G. Weleber +7 more
TL;DR: The histological data suggests that the clinical manifestation in this donor is related to degenerative changes in the retina, RPE, and choroid.
Genomics in the Era of Molecular Ophthalmology: Reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE)
Brian P. Brooks,Ian M. MacDonald,Santa J. Tumminia,N. Smaoui,Delphine Blain,Ajaina A. Nezhuvingal,Paul A. Sieving +6 more
TL;DR: This issue is dedicated to genomics in ophthalmology and the evolution of genetic medicine has been accelerated following the full sequencing of the human genome, the HapMap Project and the identification important genetic components to complex diseases such as macular degeneration and glaucoma.