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- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
- 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath
- Cutaneous gain-of-function mutation of LRIG3 leads to alopecia by upregulation of ERBB, PI3K/AKT, NOTCH1 signaling pathways
- Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice
- <i>PIK3CA</i> gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
- Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
- Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of β-catenin in mice
- 1391 Immune cells may have a role in hair loss process caused by TRPV3 gain-of-function mutation
- Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub>Channel Mutations in Intact Cells
- PCSK9: From Nature’s Loss to Patient’s Gain
- Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine
- 738 Cryo-EM and molecular dynamics of TRPV3 channel in activated state reveal structural features implicated in severe itch and hyperkeratosis
- KATP Channels in Zebrafish Cardiovascular System: A Model to Study Cantú Syndrome
- Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
- Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
- Influence of TRPV3 mutation on hair growth cycle in mice
- Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
- Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
- Differential metabolic adaptations define responses of winner and loser oncogenic mutant stem cells in skin epidermis<i>in vivo</i>
- 890 Development of pigmented reconstructed human epidermis model containing human melanoblasts from keratinocyte culture
- Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
- Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in <i>TRPV3</i> Gene
- N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
- Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations
- An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
- Hairless is a nuclear receptor corepressor essential for skin function
- Inducible expression of gasdermin A3 in the epidermis causes epidermal hyperplasia and skin inflammation
- STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone