Results 221 to 230 of about 185,672 (304)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer   +11 more
wiley   +1 more source

Structure of a group II intron in complex with its reverse transcriptase. [PDF]

open access: yesNat Struct Mol Biol, 2016
Qu G   +7 more
europepmc   +1 more source

The hidden regulators: Non‐coding RNAs in KMT2A‐rearranged acute lymphoblastic leukemia

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Acute lymphoblastic leukemia (ALL) driven by KMT2A rearrangements (KMT2A‐r) is an aggressive hematologic malignancy with poor prognosis and a high incidence in infants. While KMT2A fusion proteins drive leukemogenesis through transcriptional dysregulation, recent discoveries have highlighted the pivotal role of non‐coding RNAs (ncRNAs) in ...
Maria Augusta Poersch   +5 more
wiley   +1 more source

Group II Intron Domain 5 Facilitates a trans-Splicing Reaction

open access: green, 1988
Kevin A. Jarrell   +2 more
openalex   +2 more sources

The mitochondrial DNA copy number and ovary‐related reproductive disorders: A bidirectional two‐sample Mendelian randomization study

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 112-120, April 2025.
Abstract Objective In the present study, a bidirectional two‐sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA‐CN) and ovary‐related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian ...
Ke Peng   +4 more
wiley   +1 more source

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries [PDF]

open access: yes, 2018
Borecki, Ingrid   +13 more
core   +1 more source

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