Results 201 to 210 of about 253,061 (341)

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter   +6 more
wiley   +1 more source

The Drosophila p70s6k homolog exhibits conserved regulatory elements and rapamycin sensitivity.

open access: green, 1996
M J Stewart   +4 more
openalex   +1 more source

SOX6 enhances vascular smooth muscle cell phenotypic switching and elevates blood pressure by activating autophagy

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Sox6 expression is elevated in hypertensive conditions and promotes vascular smooth muscle cell phenotypic switching through autophagy activation. Using gain‐ and loss‐of‐function approaches both in vitro and in vivo, we demonstrate that Sox6 regulates blood pressure and vascular remodeling, highlighting its potential as a novel therapeutic target for ...
Qianhui Ling   +7 more
wiley   +1 more source

Near-infrared light activatable chemically induced CRISPR system. [PDF]

open access: yesLight Sci Appl
Zhang L   +10 more
europepmc   +1 more source

A Drosophila model of prion disease and its metabolic changes in the brain

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We developed a Drosophila model for prion disease, and flies were capable of expressing the hamster prion protein (HaPrP) under the control of the GAL4/UAS system. The model exhibited some characteristics of the disease in mammals and displayed alterations in protein, sphingolipid, and carbohydrate metabolism. Preliminary applications have demonstrated
Dongdong Wang   +14 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

Therapeutic targeting of myeloid cells in liver fibrosis: Mechanisms and clinical prospects

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This review systematically summarizes the origin, recruitment, and differentiation regulation mechanisms of myeloid cells in driving hepatic fibrosis progression. By targeting these three critical phases, potential therapeutic strategies for liver fibrosis can be explored.
Yue Wang   +5 more
wiley   +1 more source

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