Results 181 to 190 of about 13,723,248 (323)

Developing updated and new guidance to promote reliable patient identification. [PDF]

open access: yesJAMIA Open
Weatherford E   +10 more
europepmc   +1 more source

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

Spectroscopic Identification of an FeIII Center, not FeIV, in the Crystalline Sc–O–Fe Adduct Derived from [FeIV(O)(TMC)]2+

open access: green, 2015
Jai Prakash   +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

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