research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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research New plaque protein identified in brains of people with Alzheimer's disease
Scientists found a new protein, AMY117, common in Alzheimer's patients, which could be important for treatment and diagnosis.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Alopecia Areata: An Overview
DPCP works best for alopecia areata, but more research is needed for better treatments.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research TCDD-induced activation of aryl hydrocarbon receptor regulates the skin stem cell population
TCDD disrupts skin stem cells, causing skin issues like chloracne.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Videocapillaroscopic Pattern of Alopecia Areata before and after Diphenylciclopropenone Treatment
DPCP treatment improved hair regrowth and increased new capillaries in alopecia areata patients.
research Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review
New genetic mutations causing hair loss were found in a Chinese family.
research Diphenylcyclopropenone-Induced Vitiligo in a Patient with Alopecia Universalis
A patient with total hair loss developed vitiligo after using a treatment called DCP.
research Preparation, solubility, and anti-inflammatory effects of a complex of diphenylcyclopropenone/β-cyclodextrin derivatives as the treatment of alopecia areata
The DPCP/HPβCD complex improves solubility and anti-inflammatory effects for alopecia areata treatment.
research Atrichia with papular lesions resulting from mutations in the rhesus macaque (Macaca mulatta) hairless gene
Mutations in the hairless gene cause hair loss and skin cysts in rhesus macaques.
research A reasonable Response to Diphensiprone in Pediatric Alopecia Patient: A Case Report
Topical diphencyprone effectively treated a 9-year-old boy's alopecia areata with fewer side effects.
research CRABP2 Promotes the Proliferation of Dermal Papilla Cells via the Wnt/β-Catenin Pathway
CRABP2 helps increase the growth of cells important for hair growth by activating a specific growth pathway.
research Central centrifugal cicatricial alopecia
CCCA is a scarring hair loss condition mainly in African descent women, possibly caused by genetics and hairstyling, treated with gentle hair care and medications.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Plasmacytoid dendritic cells in alopecia areata: missing link?
Plasmacytoid dendritic cells are a key factor in causing hair loss in alopecia areata and could help differentiate it from other hair loss conditions.
research Central Centrifugal Cicatricial Alopecia
CCCA is a common, scarring hair loss in Black women that needs early detection.
research Citrullination at the Inflammatory Skin Barrier
A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
research Genetic Ablation of the CDP/Cux Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility
Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research 361 p120-catenin regulates epidermal inflammation in a cadherin-dependent manner
p120-catenin helps control skin inflammation by regulating cadherin levels.
research 863 Central centrifugal cicatricial alopecia gene expression analysis revealed cholesterol, fatty acid, and mast cell pathways
Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Cyclic ADP-Ribose Modulates Intracellular Calcium Homeostasis and Anagen-Associated Signaling Pathways in Human Hair Follicle Dermal Papilla Cells
Cyclic ADP-ribose helps regulate calcium and signals that promote hair growth in hair follicle cells.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.