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UnknownDe novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent de novo variants in the U4 RNA, transcribed from the RNU4-2 gene, and i...
S-EPMC11741465 | biostudies-literature
UnknownDe novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Small nuclear RNAs (snRNAs) combine with specific proteins to generate small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. U4 snRNA forms a duplex with U6 and, together with U5, contributes to the tri-snRNP spliceosomal complex. Variants in RNU4-2, which encodes U4, ha...
S-EPMC12807869 | biostudies-literature
UnknownSociodemographic, Clinical, and Psychosocial Predictors of Short- and Long-term Study Retention in the Diabetes Prevention Program (DPP) Outcomes Study (DPPOS).

Objective

Success of longitudinal studies depends on retention of participants. We examined characteristics as predictors of retention among participants with prediabetes and type 2 diabetes (T2D) in the Diabetes Prevention Program (DPP) and the follow-up DPP Outcomes Study.

Research desi...

S-EPMC12451849 | biostudies-literature
UnknownIntensive vs Standard Treatment of Hyperglycemia and Functional Outcome in Patients With Acute Ischemic Stroke: The SHINE Randomized Clinical Trial.

Importance

Hyperglycemia during acute ischemic stroke is common and is associated with worse outcomes. The efficacy of intensive treatment of hyperglycemia in this setting remains unknown.

Objectives

To determine the efficacy of intensive treatment of hyperglycemia during acute ischem...
S-EPMC6652154 | biostudies-literature
UnknownThe Integrated Genomic Landscape of Thymic Epithelial Tumors.
Thymic epithelial tumors (TETs) are one of the rarest adult malignancies. Among TETs, thymoma is the most predominant, characterized by a unique association with autoimmune diseases, followed by thymic carcinoma, which is less common but more clinically aggressive. Using multi-platform omics analyse...
S-EPMC5994906 | biostudies-literature
UnknownGuidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Not available
S-EPMC4835977 | biostudies-literature
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