Results 171 to 180 of about 3,105,692 (378)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

open access: yesFEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li   +2 more
wiley   +1 more source

An Integrative Model of Cellular States, Plasticity, and Genetics for Glioblastoma

open access: yesCell, 2019
C. Neftel   +71 more
semanticscholar   +1 more source

Genetics of diabetes mellitus and diabetes complications

open access: yesNature Reviews Nephrology, 2020
J. Cole, J. Florez
semanticscholar   +1 more source

The paradise fish, an advanced animal model for behavioral genetics and evolutionary developmental biology [PDF]

open access: hybrid, 2023
Nóra Szabó   +6 more
openalex   +1 more source

PICALM::MLLT10 translocated leukemia

open access: yesFEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen   +7 more
wiley   +1 more source

Controlling the false discovery rate in behavior genetics research

open access: yesBehavioural Brain Research, 2001
Y. Benjamini   +4 more
semanticscholar   +1 more source

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