research Protoporphyrin IX: the Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
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research The Significance of NOTCH Pathway in the Development of Fibrosis in Systemic Sclerosis
Blocking the NOTCH pathway can prevent fibrosis in systemic sclerosis.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research A 40-Year-Old Woman With Facial Papules and Flank Pain
Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research 085 Coordinate expressions of cyclin-dependent kinase inhibitors and high sulfur protein in human hair follicles
research [Low dosage retinol and L-cystine combination improve alopecia of the diffuse type following long-term oral administration].
Retinol and L-cystine improve diffuse hair loss without side effects.
research Familial Cortisol Resistance: Differential Diagnostic and Therapeutic Aspects
The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
research Protein Kinase Cε, Which Is Linked to Ultraviolet Radiation-Induced Development of Squamous Cell Carcinomas, Stimulates Rapid Turnover of Adult Hair Follicle Stem Cells
PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
Tanning ability is linked to specific DNA changes in skin genes.
research Pathology in Practice
Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
research Microsporum gypseum isolated from a feline case of dermatophytosis
A young cat had a rare fungal infection caused by Microsporum gypseum.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin
Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
research 307 Dermatologic toxicities associated with chronic gamma-secretase inhibitor treatment for desmoid tumor
Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.
research Trichotillomania treated with n-acetylcysteine
N-acetylcysteine may help treat trichotillomania.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia
Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
research New drugs: Agalsidase alfa
Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
research Steroid sulfatase inhibitors
Steroid sulfatase inhibitors could potentially treat hormone-related disorders like certain cancers, hair loss, acne, and improve cognitive dysfunction.
research Escobar syndrome (multiple pterygium syndrome) associated with osteogenesis imperfecta: a case report
Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.