Results 311 to 320 of about 8,121,841 (424)

The nuclear envelope. The major site of insulin binding in rat liver nuclei.

open access: hybrid, 1978
Riccardo Vigneri   +4 more
openalex   +1 more source

Interactions that define the arrangement of sugar-binding sites in BDCA-2 and dectin-2 dimers. [PDF]

open access: yesGlycobiology
Liu Y   +6 more
europepmc   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs   +8 more
wiley   +1 more source

A Computational Pipeline Observes the Flexibility and Dynamics of Plant Cytochrome P450 Binding Sites. [PDF]

open access: yesInt J Mol Sci
Kuvek T   +5 more
europepmc   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn   +17 more
wiley   +1 more source

Properties and Specificity of Binding Sites for 125I-Nerve Growth Factor in Embryonic Heart and Brain

open access: hybrid, 1974
William A. Frazier   +4 more
openalex   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

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