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- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
- Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
- Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of β-catenin in mice
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function <i>VDR</i> mutation
- 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
- 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
- A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
- Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation
- A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
- PCSK9: From Nature’s Loss to Patient’s Gain
- Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
- Human ClinicalPhenotype Associated with FOXN1 Mutations
- Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
- Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
- Considering the risk of a coloring shampoo with the function of gray hair cover cosmetology and skin barrier: A systematic review
- CRISPR/Cas9‐mediated loss of FGF5 function increases wool staple length in sheep
- Current Progress Regarding Cordyceps militaris, Its Metabolite Function, and Its Production
- Forkhead/winged-helix transcription factor whn regulates hair keratin gene expression: Molecular analysis of theNude skin phenotype
- Nociceptive and Nonnociceptive Roles of TRPV3 and Its “Druggability”
- Dermatologic Manifestations of Mitochondrial Dysfunction: A Review of the Literature
- Influence of TRPV3 mutation on hair growth cycle in mice
- Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
- A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
- Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
- Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
- Insertional mutation of the hairless locus on mouse Chromosome 14