Results 101 to 110 of about 9,112 (206)

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio, Camille Vatier, Émilie Capel, Carine Beaupère, Martine Auclair, Virginie Steunou, Romain Morichon, Michael Joubert, Corinne Vigouroux, Jérémie Gautheron, Isabelle Jéru   +10 more
wiley   +1 more source

Photopharmacology: A new paradigm for vision restoration

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Robert J. Casson
wiley   +1 more source

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication

JCI Insight
Hereditary macular dystrophies (HMDs) are a genetically diverse group of disorders that cause central vision loss due to photoreceptor and retinal pigment epithelium (RPE) damage.
Rabiat Adele, Rowaida Hussein, Erika Tavares, Kashif Ahmed, Matteo Di Scipio, Jason Charish, Minggao Liang, Simon Monis, Anupreet Tumber, Xiaoyan Chen, Tara A. Paton, Nicole M. Roslin, Christabel Eileen, Evgueni Ivakine, Nishanth E. Sunny, Michael D. Wilson, Eric Campos, Raju V.S. Rajala, Jason T. Maynes, Philippe P. Monnier, Andrew D. Paterson, Elise Héon, Ajoy Vincent   +22 more
doaj   +1 more source

Redefining the role of the transfusion medicine physician in the era of advanced cellular therapies

Transfusion, Volume 66, Issue 8, Page 1645-1656, August 2026.
Eric A. Gehrie, Kevin J. Land
wiley   +1 more source

Nanocarrier-based CircRNA therapeutics in inherited retinal dystrophies. [PDF]

Ann Med Surg (Lond)
Habib E, Hajj F.
europepmc   +1 more source

Exosome-based therapeutics: emerging extracellular vesicle platforms for targeted delivery in inherited retinal dystrophies and beyond. [PDF]

Ann Med Surg (Lond)
Khan SA, Ali T, Hameed A, Tahir A, Qamar MA.   +4 more
europepmc   +1 more source

Initial Site of Macular Involvement in Central Retinal Dystrophies Revealed by Fundus Autofluorescence and Optical Coherence Tomography. [PDF]

Invest Ophthalmol Vis Sci
Kawashima H, Mizobuchi K, Hayashi T, Kominami T, Nishiguchi KM, Ueno S, Mawatari G, Ikeda Y, Kondo M, Sekiryu T, Kusuhara S, Nakamura M, Fujinami K, Iwata T, Tsunoda K.   +14 more
europepmc   +1 more source

Mitochondrial Macular Dystrophy-A Case Report and Mini Review of Retinal Dystrophies. [PDF]

J Clin Med
Rotuski G, Paczwa K, Mędrzycka J, Różycki R, Gołębiewska J.   +4 more
europepmc   +1 more source

Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review. [PDF]

Ophthalmol Sci
Ibrahim M, Chebly A, El Shamieh S.
europepmc   +1 more source