Background The results of our previous study showed that impaired cellular energy metabolism contributes to duck enteritis virus-induced autophagy via the 5`-adenosine monophosphate-activated protein kinase (AMPK)/tuberous sclerosis complex 2/mammalian ...
Haichang Yin +5 more
doaj +1 more source
Tuberous Sclerosis Complex 2 Gene Product Interacts with Human SMAD Proteins [PDF]
Maria C. Birchenall-Roberts +9 more
openaire +1 more source
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Cooperative benefit for the combination of rapamycin and imatinib in tuberous sclerosis complex neoplasia [PDF]
Tuberous sclerosis (TS) is a common autosomal-dominant disorder characterized by tumors of the skin, lung, brain, and kidneys. Monotherapy with rapamycin however resulted in partial regression of tumors, implying the involvement of additional pathways ...
Abel, Martin-Garrido +9 more
core +1 more source
Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik +9 more
wiley +1 more source
Mechanistic target of rapamycin (mTOR) activation during ruminant mammary development and function : a thesis presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy in Animal Science at Massey University, Palmerston North, New Zealand [PDF]
This thesis examines the abundance of total and activated mechanistic target of rapamycin (mTOR) pathway components in the developing and functional ruminant mammary gland. mTOR pathway activation is stimulated by a wide range of intra- and extracellular
Sciascia, Quentin Leon
core
Adult reversal of cognitive phenotypes in neurodevelopmental disorders [PDF]
Recent findings in mice suggest that it is possible to reverse certain neurodevelopmental disorders in adults. Changes in development, previously thought to be irrepa-rable in adults, were believed to underlie the neurological and psychiatric phenotypes ...
Alcino J. Silva +69 more
core +1 more source
Non‐canonical PKG1 regulation in cardiovascular health and disease
It is well established that the cyclic GMP‐dependent protein kinase I (PKG1) is canonically activated by cyclic guanosine monophosphate (cGMP), enabling its regulation of vascular tone, cardiac function and smooth muscle homeostasis. However, diverse non‐canonical stimuli of PKG1 have also been identified.
Jie Su, Joseph Robert Burgoyne
wiley +1 more source
Variants within TSC2 exons 25 and 31 are very unlikely to cause clinically diagnosable tuberous sclerosis [PDF]
Inactivating mutations in TSC1 and TSC2 cause tuberous sclerosis complex (TSC). The 2012 international consensus meeting on TSC diagnosis and management agreed that the identification of a pathogenic TSC1 or TSC2 variant establishes a diagnosis of TSC ...
Dawson, NL +6 more
core
Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?
Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli +7 more
wiley +1 more source

