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The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.

This study found that a heterozygous missense mutation in ATR is associated with a hereditary cancer syndrome, manifested by oropharyngeal cancer and other anomalies, in an autosomal-dominant inheritance pattern across a five-generation family.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.

This study found that inhibiting the Mitochondrial Pyruvate Carrier in human hair follicles ex vivo activated the integrated stress response, affecting cell proliferation and metabolism.

This study found that inhibiting the ATR kinase with VE-822 impairs DNA repair capability in quiescent human keratinocytes exposed to solar-simulated UV radiation, suggesting ATR's critical role in facilitating effective DNA damage repair and cellular recovery under UV stress conditions.

This study discovered that the gene Tfap2b identifies a melanocyte stem cell population in zebrafish, essential for regenerating melanocytes with multi-fate potential into adult pigment cells.

In this study, researchers investigated the role of the ATX-LPA axis in asthma pathogenesis using human and mouse models and highlighted the potential for developing new ATX inhibitors as effective asthma treatments.

This study observed that DNA damage response (DDR) plays a key role in pressure overload-induced cardiomyocyte hypertrophy, with disruption of the ATM kinase pathway potentially modulating this hypertrophy in mice.

This research describes using advanced mass spectrometry imaging techniques to analyze gunshot residue and map molecular components in biological samples, such as tumors and mosquito ovarian follicles, at unprecedented spatial resolution and specificity.

In this study, tebentafusp-tebn improved overall survival in patients with metastatic uveal melanoma compared to standard therapies, despite higher rates of significant adverse events.

This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.

This study reported that structure-guided engineering of CYP154C2 mutants significantly improved the 2α-hydroxylation of androstenedione and testosterone, with enhanced conversion efficiency and substrate selectivity compared to the wild-type enzyme.

In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.

This review discusses the physiological roles of anthrax toxin receptors CMG2 and TEM8, highlighting their influence on extracellular matrix homeostasis, angiogenesis, cell migration, and skin elasticity, and reports no new clinical results.

This study indicates that MAGE-11 modulates androgen receptor transcriptional activity through F-box interactions, independent of the activation function 2 pathway, revealing a novel mechanism for androgen receptor regulation.

This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.

In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.

This study introduced a new technique, 2Phatal, enabling precise apoptotic cell ablation in living animals, revealing unique cell-type differences in apoptosis-related dynamics.

This study demonstrated that adenosine triphosphate may prevent vandetanib-induced skin toxicity in rats, suggesting potential for further research in other animal models and humans.

This study found that tofacitinib may be effective for treating pediatric rheumatic diseases, with especially promising results in patients with autoinflammatory diseases, arthritis and alopecia, and juvenile dermatomyositis.

In a mouse model of chemotherapy-induced alopecia, this study found that enhancing ETV2 expression improved angiogenesis and hair regrowth following 5-fluorouracil treatment.

This study observed that partial autotaxin deficiency in mice protects against diet-induced obesity and systemic insulin resistance, suggesting the ATX-LPA pathway negatively affects skeletal muscle insulin signaling and mitochondrial function during obesity.

This study found that V-ATPase plays a role in the acidification of vas deferens fluid under the influence of testosterone in orchidectomized rats.

This study found that combined loss of Atr and p53 in adult mice led to severe tissue degeneration and delayed regeneration due to the accumulation of highly damaged cells.

This study found that in mouse embryonic fibroblast cells lacking autophagy function, overexpression of Atg5 increased cell proliferation, while restoring autophagy reversed this effect, highlighting Atg5's dual role in tumorigenesis depending on autophagy conditions.

This study found that Forsythiaside A may protect against sepsis-induced acute kidney injury in mice by reducing inflammation and apoptosis through modulation of ER stress responses.

This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.

This review examines the molecular mechanisms by which the proapoptotic protein ARTS inhibits tumorigenesis and discusses prospects for developing drugs that mimic its function, with no new experimental results reported.

This study found that in Arabidopsis seedlings, tonoplast intrinsic proteins are targeted to the vacuole via at least two pathways, including pathways with differing sensitivity to a chemical inhibitor that affect root hair growth and PIN2 targeting.