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Pathogenic variants in SHROOM3 associated with hemifacial microsomia.
J Hum Genet
January 2025
Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100144, China.
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital anomalies. However, known causal genes account for only approximately 6% of patients, indicating the need to discover more pathogenic genes. Association tests demonstrated an association between common variants in SHROOM3 and HFM (P = 1.
View Article and Find Full Text PDFGorillaFACS: The Facial Action Coding System for the Gorilla spp.
PLoS One
January 2025
Human Biology & Primate Cognition Department, Institute of Biology, Leipzig University, Leipzig, Germany.
The Facial Action Coding System (FACS) is an objective observation tool for measuring human facial behaviour. It avoids subjective attributions of meaning by objectively measuring independent movements linked to facial muscles, called Action Units (AUs). FACS has been adapted to 11 other taxa, including most apes, macaques and domestic animals, but not yet gorillas.
View Article and Find Full Text PDFIntroduction: Systemic lupus erythematosus (SLE) is a chronic inflammatory autoimmune disease that affects various body systems, including the skin and facial features. Estrogen promotes lupus in human and mouse models of SLE. In this study, we conducted an in vivo study to investigate the relationship between two estrogen receptors (ERα and ERβ) and platelet-activating factor acetylhydrolase (PAF-AH) on the symptoms of SLE.
View Article and Find Full Text PDFExamining Mammalian facial behavior using Facial Action Coding Systems (FACS) and combinatorics.
PLoS One
January 2025
Department of Psychology, Lyon College, Batesville, Arkansas, United States of America.
There has been an increased interest in standardized approaches to coding facial movement in mammals. Such approaches include Facial Action Coding Systems (FACS), where individuals are trained to identify discrete facial muscle movements that combine to create a facial configuration. Some studies have utilized FACS to analyze facial signaling, recording the quantity of morphologically distinct facial signals a species can generate.
View Article and Find Full Text PDFEffects of treadmill running on anxiety- and craniofacial pain-like behaviors with histone H3 acetylation in the brain of mice subjected to social defeat stress.
PLoS One
January 2025
Division of Oral Physiology, Faculty of Dentistry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
This study examined the effects of treadmill running (TR) regimens on craniofacial pain- and anxiety-like behaviors, as well as their effects on neural changes in specific brain regions of male mice subjected to repeated social defeat stress (SDS) for 10 days. Behavioral and immunohistochemical experiments were conducted to evaluate the impact of TR regimens on SDS-related those behaviors, as well as epigenetic and neural activity markers in the anterior cingulate cortex (ACC), insular cortex (IC), rostral ventromedial medulla (RVM), and cervical spinal dorsal horn (C2). Behavioral responses were quantified using multiple tests, while immunohistochemistry measured histone H3 acetylation, histone deacetylases (HDAC1, HDAC2), and neural activity markers (FosB and phosphorylated cAMP response element-binding protein (pCREB).
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