Results 181 to 190 of about 86,883 (336)

Diagnostics of Autoimmune Hepatitis Enabled by Non‐Invasive Clinical Proteomics

open access: yesAlimentary Pharmacology &Therapeutics, EarlyView.
Mass‐spectrometry‐based proteomic analyses of paired liver‐plasma samples from patients with AIH enabled discovery of numerous proteins showing high diagnostic accuracy. Proteomics may constitute a novel non‐invasive diagnostic tool for AIH if validated in larger, age‐ and sex‐matched cohorts.
Anne‐Sofie Houlberg Jensen   +20 more
wiley   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

open access: yesBrain Pathology, EarlyView.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li   +7 more
wiley   +1 more source

CTCF Is Essential for the Development and Maintenance of CALM‐AF10‐Induced Leukemia

open access: yesCancer Science, EarlyView.
CTCF regulates TGM2 gene expression by modulating key histone modifications, including increased acetylation of H3K27 (H3K27ac) and trimethylation of H3K4 (H3K4me3), along with decreased trimethylation of H3K27 (H3K27me3). These epigenetic changes are critical for maintaining the stem‐like properties of CALM‐AF10‐induced AML. Pharmacological inhibition
Yoko Kuroki   +5 more
wiley   +1 more source

Six New Cases of 22q13.2 Gain Including TFC20: First Report of Triplication and Smallest Duplication Associated With Neurodevelopmental Delays

open access: yesClinical Genetics, EarlyView.
This study reports six new cases of 22q13.2 duplication and triplication, including the TCF20 gene, associated with neurodevelopmental disorders and various morphological and systemic abnormalities. The findings suggest a variable expressivity, but their complete penetrance remains uncertain compared to well‐established loss‐of‐function variants ...
Etienne Bizot   +13 more
wiley   +1 more source

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

open access: yesClinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel   +10 more
wiley   +1 more source

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