Results 241 to 250 of about 372,458 (325)

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A 6½‐year‐old girl was diagnosed with a medulloblastoma, SHH activated, subtype 3 and TP53 mutant (somatic). After surgery and chemotherapy, she was monitored with quarterly magnetic resonance imaging (MRI) scans and remained free of disease for almost 4 years.
Daniel Antunes Moreno   +19 more
wiley   +1 more source

Thrombophilia Testing: from Genetic Predisposition to Discrimination

open access: yesTH Open
Andreas Verstraete   +3 more
doaj   +1 more source

Temporal glomerular gene expression dynamics during disease progression in a mouse model of hypertension‐accelerated diabetic kidney disease

open access: yesAnimal Models and Experimental Medicine, EarlyView.
The current study characterized temporal changes in glomerular gene expression, pathology, and biomarkers in a mouse model of hypertension‐accelerated diabetic kidney disease (DKD). Progressive albuminuria and glomerulosclerosis were paralleled by dynamic transcriptomic changes associated withmetabolic dysfunction, extracellular matrix remodeling, and ...
Adam B. Marstrand‐Jørgensen   +8 more
wiley   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

open access: yes, 2019
Claes, Kathleen   +9 more
core   +2 more sources

Interplay of Acquired Risk Factors, Age, and Genetic Predisposition in Incident Stroke: A Prospective Cohort Study. [PDF]

open access: yesJ Am Heart Assoc
Wu YB   +11 more
europepmc   +1 more source

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

open access: yesAnnals of Neurology, EarlyView.
rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury. However, loss of NF2 leads to a reduction in NRGβ1‐expression and increased ErbB2 levels on Schwann cells (in green), which contributes to schwannoma ...
Julia P. Bischoff   +7 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

open access: yesAnnals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios   +5 more
wiley   +1 more source

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