Results 61 to 70 of about 16,484,276 (296)
, 2017 Alexander disease is a leukodystrophy caused by dominant missense mutations in the gene encoding the glial fibrillary acidic protein. Individuals with this disorder often present with a typical neuroradiologic pattern including white matter abnormalities with brainstem involvement, selective contrast enhancement, and structural changes to the basal
M. Brenner, B.R. Barton
+5 more sources
The Accident and its Causes: Pseudo-Alexander on Aristotle (Metaphysics E 3) [PDF]
, 2018 Pseudo-Alexander\u2019s commentary in Metaphysics \u395 3 is one of the three ancient commentaries which came down to us together with Ascepius\u2019s commentary and Pseudo-Philoponus\u2019s one, in Latin.
Salis, Rita
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background B‐acute lymphoblastic leukemia (B‐ALL) is the most common pediatric cancer, and while most children in high‐resource settings are cured, therapy carries risks for long‐term toxicities. Understanding parents’ concerns about these late effects is essential to guide anticipatory support and inform evolving therapeutic approaches ...
Kellee N. Parker +7 more
wiley +1 more source
Molecular Diagnosis of Alexander Disease
Pediatric Neurology Briefs, 2002 The value of clinical and MRI criteria in the diagnosis of Alexander disease was determined by using GFAP gene sequencing as the confirmatory assay in 13 patients with variable ages of onset in a study at Children’s National Medical Center, Washington ...
J Gordon Millichap
doaj +1 more source
A Case of Statin-Associated Autoimmune Myopathy. [PDF]
, 2017 A 70-year-old previously independent man developed progressive proximal leg weakness resulting in a fall at home suffering traumatic brain injury. He was prescribed a statin medication two years prior, but this was discontinued on admission to the ...
Dokukin, Andrei N +6 more
core +3 more sources
Real‐time assay of ribonucleotide reductase activity with a fluorescent RNA aptamer
FEBS Letters, EarlyView.Ribonucleotide reductases (RNR) synthesize DNA building blocks de novo, making them crucial in DNA replication and drug targeting. FLARE introduces the first single‐tube real‐time coupled RNR assay, which enables isothermal tracking of RNR activity at nanomolar enzyme levels and allows the reconstruction of allosteric regulatory patterns and rapid ...
Jacopo De Capitani +4 more
wiley +1 more source
Multiple ETS family transcription factors bind mutant p53 via distinct interaction regions
FEBS Letters, EarlyView.Mutant p53 gain‐of‐function is thought to be mediated by interaction with other transcription factors. We identify multiple ETS transcription factors that can bind mutant p53 and found that this interaction can be promoted by a PXXPP motif. ETS proteins that strongly bound mutant p53 were upregulated in ovarian cancer compared to ETS proteins that ...
Stephanie A. Metcalf +6 more
wiley +1 more source
Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes
Cell Reports, 2018 Summary: How mutations in glial fibrillary acidic protein (GFAP) cause Alexander disease (AxD) remains elusive. We generated iPSCs from two AxD patients and corrected the GFAP mutations to examine the effects of mutant GFAP on human astrocytes.
Jeffrey R. Jones +15 more
doaj +1 more source
The Signature of God in Medicine and Microbiology An Apologetic Argument for Declarative Design in the Discoveries of Alexander Fleming [PDF]
, 2016 In logic and reasoning, a signature indicates the presence of an author; likewise, the characteristics of staphylococci indicate the presence of a Creator.
Cargill, Michael, Gillen, Alan L.
core +1 more source
Nuclear matrix protein 2 antibody-positive adult dermatomyositis: a case report and review of the literature [PDF]
, 2020 Dermatomyositis is a clinically heterogenous inflammatory myopathy with unique cutaneous features. Myositis-specific antibodies can aid in diagnosis and anticipation of patient prognosis.
Cartron, Alexander M +3 more
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