Results 61 to 70 of about 7,465 (249)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Advances in the genetics of refractive errors: Contributions from the CREAM consortium

Acta Ophthalmologica, Volume 104, Issue 3, Page e222-e231, May 2026.
Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li, Xi He, Louise Terry, Virginie J. M. Verhoeven, Samantha Sze‐Yee Lee, Gareth Lingham, Jeremy A. Guggenheim, David A. Mackey, Seang‐Mei Saw, Caroline C. W. Klaver, Chi Pui Pang, CREAM Consortium   +11 more
wiley   +1 more source

The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium.

, 2015
The aim of this study was to investigate the interaction and co-localization of novel interacting proteins with the Leber congenital amaurosis (LCA) associated protein aryl hydrocarbon receptor interacting protein-like 1 (AIPL1)
Juan Hidalgo-de-Quintana, Powner, MB, van der Spuy, J, Hidalgo-De-Quintana, J., Morrison, E. E., Morrison, EE, Schwarz, N., Futter, C. E., Wolfrum, U, Meschede, I. P., Meschede, IP, Futter, CE, Uwe Wolfrum, Cheetham, ME, Schwarz, N, Van Der Spuy, J., Stern-Schneider, G., Ingrid P Meschede, Gabriele Stern-Schneider, Michael B Powner, Wolfrum, U., Hidalgo-de-Quintana, J, Powner, M. B., Ewan E Morrison, Michael E Cheetham, Jacqueline van der Spuy, Nele Schwarz, Clare E Futter, Stern-Schneider, G, Cheetham, M. E.   +29 more
core   +1 more source

Opening closed inward rectifier potassium channel doors

British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.
Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger, Fabian Kaiser, Marcel A. G. van der Heyden, Saïd Bendahhou   +3 more
wiley   +1 more source

Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives

Medical Review, 2022
Advancements in genome editing enable permanent changes of DNA sequences in a site-specific manner, providing promising approaches for treating human genetic disorders caused by gene mutations.
Huang Chao, Li Qing, Li Jinsong
doaj   +1 more source

Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

, 2004
Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been mapped, and seven of these have been identified. Because some of these genes are
Hamel, Christian, Hanein, Sylvain, Dufier, Jean-Louis, Gerber, Sylvie, Barbet, Fabienne, Kaplan, Josseline, Ducroq, Dominique, Dollfus, Helene, Rozet, Jean-Michel, Munnich, Arnold, Perrault, Isabelle   +10 more
core   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population

Molecular Vision, 2019
Purpose: To screen RPE65 in 187 families with Leber congenital amaurosis (LCA). Methods: Sanger sequencing and/or targeted exome sequencing was employed to identify mutations in the RPE65 gene, and intrafamilial cosegregation analysis if DNA was ...
Zilin Zhong, Feng Rong, Yinghui Dai, Alakezi Yibulayin, Lin Zeng, Jian Liao, Liefeng Wang, Zhihua Huang, Zhenping Zhou, Jianjun Chen   +9 more
doaj  

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

Advanced Science, Volume 13, Issue 20, 9 April 2026.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian, Sreenidhi Mohanvelu, Sheeja Aravindan, Afsana Parveen Jahir Hussain, Sivasubramani Narayanan, Sabir Salim, Loganayaki Periyasamy, Natarajan Aravindan   +7 more
wiley   +1 more source

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX

, 2001
We summarize 18 mutations in the human CRX gene that have been associated with Leber congenital amaurosis (congenital retinal blindness), cone-rod degeneration, or retinitis pigmentosa.
Rivolta, C., Dryja, Thaddeus P., Rivolta, Carlo, Berson, Eliot L., Dryja, T. P., Berson, E. L.   +5 more
core   +1 more source