Results 251 to 260 of about 204,351 (287)

CFTR rescue in W1282X cystic fibrosis patient-derived intestinal organoids (PDIOs) mediated by translational readthrough-inducing drugs (TRIDs). [PDF]

Genet Med Open
Perriera R, Ramalho AS, Vermeulen F, Vitale E, Pibiri I, Pace A, Lentini L.   +6 more
europepmc   +1 more source

Substitutions in RNA-binding protein Hrp1 map a potential interaction surface with the yeast RNA polymerase II elongation complex. [PDF]

Genetics
Wang M, Arora P, Kaplan CD, Brow DA.
europepmc   +1 more source

Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients. [PDF]

Orphanet J Rare Dis
Fateen E, Nosier SS, Aziz NNA, Radwan AM, Mohammed EEA.   +4 more
europepmc   +1 more source

Alternative start codon selection shapes mitochondrial function and rare human diseases. [PDF]

Mol Cell
Ly J, Di Bernardo M, Tao YF, Khalizeva E, Giuliano CJ, Lourido S, Fleming MD, Cheeseman IM.   +7 more
europepmc   +1 more source

Selenoprotein N and SEPN1-Related Myopathies: Mechanisms, Models, and Therapeutic Perspectives. [PDF]

Biomolecules
Lanza M, Zito E, Dinoi G, Buono AV, De Luca A, Imbrici P, Liantonio A, Conte E.   +7 more
europepmc   +1 more source

Beyond the stop: Oxadiazole TRIDs restore LRBA protein expression in nonsense-driven primary immunodeficiency. [PDF]

Mol Ther Nucleic Acids
Fiduccia I, Vitale E, Varrica R, Ricci D, Marino S, Zito A, Pace A, Colige A, Moutschen M, Borutzki Y, Bileck A, Meier-Menches SM, Lentini L, Pibiri I.   +13 more
europepmc   +1 more source

MYO5B Deficiency-Associated Cholestasis and the Role of the Bile Salt Export Pump. [PDF]

Cells
Zhou Z, van IJzendoorn SCD.
europepmc   +1 more source

The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion. [PDF]

Appl Clin Genet
Chetta M, Salamandra A, Tarsitano M, D'Antonio M, Sannino E, Torre S, Fatigati C, Costantini S, D'Ambrosio P, Priolo M, Ricchi P.   +10 more
europepmc   +1 more source