research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
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870-900 / 1000+ results research Vitamin C Deficiency-Induced Pulmonary Arterial Hypertension
Vitamin C supplementation can resolve pulmonary arterial hypertension caused by vitamin C deficiency.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research A Phase 1 Study to Investigate the Effects of Cortexolone 17α‐Propionate, Also Known as Clascoterone, on the QT Interval Using the Meal Effect to Demonstrate ECG Assay Sensitivity
Clascoterone is safe for the heart, even at high doses.
research Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research CARI ONE Induces Anagen Phase of Telogenic Hair Follicles Through Regulation of β-Catenin, Stimulation of Dermal Papilla Cell Proliferation, and Melanogenesis
CARI ONE helps start hair growth and makes hair follicles bigger and more numerous.
research Characterization and expression analysis of the hair keratin associated protein KAP26.1
research Common Forms of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
research Immunohistochemical analysis of procathepsin L and cathepsin B in cutaneous Kaposi's sarcoma
Kaposi's sarcoma lesions might originate from benign tissue changes.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research Endothelial NMMHC IIA dissociation from PAR1 activates the CREB3/ARF4 signaling in thrombin-mediated intracerebral hemorrhage
Targeting NMMHC IIA may help treat blood-brain barrier damage.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Abnormal differentiation of epidermis in transgenic mice constitutively expressing cyclooxygenase-2 in skin
Overexpression of COX-2 in mice skin causes abnormal skin and hair development.
research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia
Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
research This month in JAAD Case Reports: October 2023—Central centrifugal cicatricial alopecia in Black men
CCCA affects Black men too, with a genetic link found in the PADI3 gene.
research Dendritic Cell–Associated MARCKSL1 Regulates Fibroblast Differentiation During Wound Healing
MARCKSL1 is important for wound healing and could be a target to reduce scarring.
research Trichohyalin: Purification from Porcine Tongue Epithelium and Characterization of the Native Protein
Trichohyalin, a protein from pig tongue, was purified and found to have a filamentous structure.
research Keratin expression by corneal and limbal stem cells during development
Different types of cells in the eye express specific keratins at various stages of development.
research The alopecia areata phenotype is induced by the water avoidance stress test in cchcr1-deficient mice
Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research A group of type I keratin genes on human chromosome 17: characterization and expression.
Only one K16 gene on chromosome 17 makes a functional keratin protein.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research Variation in the caprine keratin-associated protein 15-1 (KAP15-1) gene affects cashmere fibre diameter
The KRTAP15-1 gene affects cashmere fiber thickness in goats.
research ANXA1 affects murine hair follicle growth through EGF signaling pathway
ANXA1 influences hair growth in mice through the EGF signaling pathway.
research Single-cell transcriptomics reveals hair growth retardation mediated by aberrant connective tissue sheath contraction in male androgenetic alopecia
Inhibiting connective tissue sheath contraction may improve hair growth in male pattern baldness.
research Cleave but not leave: Astrotactin proteins in development and disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.