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In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.

This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.

This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This study found that ANXA1 may influence hair growth in mice by regulating hair follicle stem cell proliferation through the EGF signaling pathway.

This study observed that epidermal-specific deletion of aPKCλ in mice disrupts hair follicle stem cell quiescence, leading to altered hair follicle cycling and skin anomalies.

This study found that inhibiting AP-1 activity in mice modified tumor development, leading to transdifferentiation between squamous and sebaceous tumors, with molecular analysis suggesting AP-1's role in maintaining tumor cell identity.

This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.

This study analyzed the geometric and electronic properties of baicalin conformers, finding that BCLa2TT and BCLa1TT conformers exhibit high stability in aqueous solutions and are favorable for interactions with positively charged species.

This study found that BMP receptor IA is crucial for hair progenitor cell differentiation in mice, and its sequential inhibition and activation are necessary to generate a functioning hair shaft.

This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.

This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.

This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.

This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.

This study found that the co-activator CBP enhances the agonistic action of hydroxyflutamide on androgen receptors, suggesting a mechanism for therapy resistance in prostate cancer.

This study found that CD44 and CD49d together enhance signaling pathways in lymphocytes in mice with alopecia areata, influencing their activation and function.

AGC2-1 protein is essential for root hair growth in Arabidopsis.

In this study, researchers found that AP-2α and AP-2β are critical for maintaining epidermal homeostasis in adult skin, with their combined loss leading to severe skin and hair abnormalities and early skin inflammation due to impaired keratinocyte differentiation.

This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.

This study found that deleting Stim1 and Stim2 in mature T regulatory cells disrupts Ca 2+ signaling, preventing their differentiation and leading to severe autoimmune disorders in mice.

This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.

This study developed the mTurquoise2-Col4a1 mouse model and used fluorescent tagging of collagen IV to offer new insights into basement membrane dynamics during hair follicle budding, revealing that basement membranes are flexible and stable structures in developing skin tissue.

In this study, researchers observed that TCDD exposure in mice enhanced sebaceous gland differentiation and lipid production before causing seboatrophy, providing insights into the cellular events that may contribute to chloracne pathogenesis.

This study found that BRG1 is crucial for keratinocyte migration during skin wound healing, as its suppression impairs wound closure by inhibiting migration without affecting cell proliferation or apoptosis.

In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.

Mutations in β1 integrins cause embryonic death but have milder effects on skin.

This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.