Results 251 to 260 of about 33,702 (335)

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev   +14 more
wiley   +1 more source

Distinct proteomic profiles of plasma-derived extracellular vesicles in healthy, benign, and triple-negative breast cancer: candidate biomarkers for liquid biopsy. [PDF]

open access: yesSci Rep
Tamarindo GH   +10 more
europepmc   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

In vitro reconstitution defines the minimal requirements for Cdc48-dependent disassembly of the CMG helicase in budding yeast [PDF]

open access: yes, 2019
Bell   +36 more
core   +1 more source

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