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research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Selective Ablation of Ctip2/Bcl11b in Epidermal Keratinocytes Triggers Atopic Dermatitis-Like Skin Inflammatory Responses in Adult Mice
Removing Ctip2 in skin cells causes skin inflammation similar to atopic dermatitis.
research A Mouse Model for Conditional Expression of Activated β-Catenin in Epidermal Keratinocytes
Activated β-catenin affects hair growth and skin thickness, and changes are reversible.
research LncRNA PlncRNA‑1 regulates proliferation and differentiation of hair follicle stem cells through TGF‑β1‑mediated Wnt/β‑catenin signal pathway
PlncRNA-1 helps hair follicle stem cells grow and develop by controlling a specific cell signaling pathway.
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research 766 H3K9me3 methyltransferase SETDB1 controls retrotransposon silencing, DNA methylation, constitutive heterochromatin maintenance and 3D-chromatin structure in epidermal keratinocytes
SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
research Activation of the transcription factor Gli1 and the Sonic hedgehog signalling pathway in skin tumours
research Vitamin D metabolism and function in the skin
Skin cells produce and activate vitamin D, which regulates skin functions and supports hair growth.
research Distinct Developmental Functions of Prostasin (CAP1/PRSS8) Zymogen and Activated Prostasin
Prostasin has two roles in skin: one for normal skin development without needing activation, and another for proper hair growth that requires activation.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Eruptive Vellus Hair Cysts: Report of a New Case with Immunohistochemical Study and Literature Review
Eruptive vellus hair cysts are rare, benign skin lesions that are hard to treat.
research FOXE1, A New Transcriptional Target of GLI2 Is Expressed in Human Epidermis and Basal Cell Carcinoma
research Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Miz1 is required for hair follicle structure and hair morphogenesis
Miz1 is essential for proper hair structure and growth.
research Alteration of Skin Wound Healing in Keratinocyte-Specific Mediator Complex Subunit 1 Null Mice
MED1 affects skin wound healing differently in young and old mice.
research Basement Membrane Zone Remodeling During Appendageal Development in Human Fetal Skin. The Absence of Type VII Collagen is Associated with Gelatinase-A (MMP2) Activity
Type VII collagen absence helps skin development by allowing tissue remodeling.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Lrig1 Expression in Human Sebaceous Gland Tumors
Lrig1 could be a marker for advanced sebaceous carcinoma.
research 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
research Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
research Epidermal Differentiation Enhances CRABP II Expression in Human Skin
research Deletion of Deoxyribonucleic Acid Binding Domain of the Vitamin D Receptor Abrogates Genomic and Nongenomic Functions of Vitamin D
Removing part of the vitamin D receptor stops vitamin D from working properly.
research Defining the impact of β-catenin/Tcf transactivation on epithelial stem cells
β-catenin is essential for stem cell activation and proliferation in hair follicles.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
Targeting ornithine decarboxylase can help prevent skin cancer.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Cysteine contents of purified human hair low-sulfur protein components
research Does Vitamin D play a role on Msx1 homeoprotein expression involving an endogenous antisense mRNA?*1
Vitamin D affects Msx1 protein expression and may influence mineralized tissue health.