Results 121 to 130 of about 27,701 (252)

The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome. [PDF]

open access: yesMol Genet Genomic Med, 2021
Cheng C   +8 more
europepmc   +1 more source

Trafficking Deficiency of TMEM175 Variants in Parkinson's Disease Pathogenesis and the Prospects of Precision Medicine

open access: yesAdvanced Science, EarlyView.
This study identifies that the PD‐associated TMEM175‐L156P variant disrupts lysosomal ion channel trafficking by causing aberrant endoplasmic reticulum retention. A “chaperone–agonist” bifunctional small molecule restores TMEM175‐L156P lysosomal localization and channel function, thereby alleviating PD‐relevant cellular phenotypes and highlighting a ...
Ting Luo   +17 more
wiley   +1 more source

Magnitude and determinants of neural tube defect in Africa: a systematic review and meta-analysis. [PDF]

open access: yesBMC Pregnancy Childbirth, 2021
Atlaw D   +8 more
europepmc   +1 more source

The IRE1‐XBP1s Axis Drives Inflammatory Osteolysis by Regulating a 5‐HT Dependent Endogenous Anti‐Autophagy Mechanism

open access: yesAdvanced Science, EarlyView.
A previously unrecognized IRE1‐XBP1s‐Slc6a4 signaling axis links endoplasmic reticulum stress to serotonin metabolism, autophagy, and inflammatory osteoclastogenesis. By promoting intracellular serotonin uptake and reducing endogenous 3‐methyladenine accumulation, this pathway accelerates inflammatory bone destruction and provides a promising ...
Pengchao Yang   +14 more
wiley   +1 more source

Tripeptide Leu-Pro-Phe from Corn Protein Hydrolysates Attenuates Hyperglycemia-Induced Neural Tube Defect in Chicken Embryos. [PDF]

open access: yesOxid Med Cell Longev, 2022
Yan CY   +12 more
europepmc   +1 more source

Deep‐Learning‐Driven High‐Fidelity In Vivo Hyperspectral Fluorescence Imaging Under Extreme Photon‐Limited Conditions

open access: yesAdvanced Science, EarlyView.
Highly overlapping fluorescent signals become distinguishable in photon‐limited living organisms via advanced imaging with intelligent reconstruction. The resulting in vivo hyperspectral imaging capability reveals nanoplastic uptake and circulation in live zebrafish, providing a new approach for studying complex biological and environmental processes ...
Renjian Li   +11 more
wiley   +1 more source

Folate, Vitamin B12, and Homocysteine Levels in Women With Neural Tube Defect-Affected Pregnancy in Addis Ababa, Ethiopia. [PDF]

open access: yesFront Nutr, 2022
Kucha W   +7 more
europepmc   +1 more source

Miro1 Protects Against Acute Kidney Injury Through Modulating Mitochondrial Homeostasis via Interaction With Sirt6

open access: yesAdvanced Science, EarlyView.
Ischemia‐reperfusion reduces Sirt6 activity, thereby increasing Miro1 acetylation. Hyperacetylated Miro1 exhibits perinuclear distribution and degradation, thereby inducing mitochondrial dysfunction and promoting apoptosis in renal tubular epithelial cells. This pathway reveals a mechanistic link between Sirt6‐mediated deacetylation and Miro1 stability
Lin Wu   +12 more
wiley   +1 more source

Long Noncoding RNA PCALRx Interacts with Pyruvate Carboxylase to Drive Multi‐Organ Developmental Toxicity in Zebrafish Embryos Exposed to Amoxicillin

open access: yesAdvanced Science, EarlyView.
Embryonic amoxicillin exposure disrupts multi‐organ development in zebrafish larvae through a lncRNA–metabolic enzyme regulatory axis. PCALRx associates with pyruvate carboxylase, promotes PC protein ubiquitination, and impairs mitochondrial energy metabolism, while vitamin B1 partially restores PC‐centered metabolic function and developmental outcomes.
Yixue Yao   +5 more
wiley   +1 more source

Home - About - Disclaimer - Privacy