Results 41 to 50 of about 166,148,780 (209)

Comparative assessment of crystallographic and cryo‐EM models in the Protein Data Bank

open access: yesFEBS Open Bio, EarlyView.
Raw data obtained by X‐ray crystallography or cryo‐EM result in experimental maps, ultimately fitted by atomic models. Although the physical principles are different, the final results can be viewed, compared, and evaluated in the same way. With cryogenic electron microscopy (cryo‐EM) on track to surpass X‐ray crystallography as the preferred method ...
Alexander Wlodawer   +7 more
wiley   +1 more source

Structural service book.

open access: yes, 1918
Mode of access: Internet.Environ Dsgn TH1.A6: v.1: Gift of John Galen Howard"A revised reprint from the 12 issues for 1917 of the Journal of the American Institute of Architects, Structural Service Department.
American Institute of Architects. Structural Service Dept.
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

S-Antipodal Signed Graphs

open access: yes, 2016
[[abstract]]In this paper we introduced a new notion S-antipodal signed graph of a signed graph and its properties are obtained. Also we give the re- lation between antipodal signed graphs and S-antipodal signed graphs.
P. Siva Kota Reddy, B. Prashanth
core  

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw   +5 more
wiley   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang   +13 more
wiley   +1 more source

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

open access: yesArthritis Care &Research, EarlyView.
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart   +5 more
wiley   +1 more source

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