research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
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540-570 / 1000+ results research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research PRIMERA PARTE EFECTO DEPILATORIO DEL "COCO DE MONO" (LECYTHIS OLLARIA )
"Coco de mono" seeds cause temporary hair loss due to selenocystathionine.
research GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Cedrol restricts the growth of colorectal cancer in vitro and in vivo by inducing cell cycle arrest and caspase-dependent apoptotic cell death
Cedrol may be an effective treatment for colorectal cancer.
research Uncombable-hair Syndrome
Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
research Primary cicatricial alopecia associated with systemic indolent mastocytosis
Systemic mastocytosis may cause a type of hair loss called cicatricial alopecia.
research β-Catenin Inactivation Is a Pre-Requisite for Chick Retina Regeneration
Inactivating β-catenin is essential for chick retina regeneration.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Graham Little-Lassueur Syndrome with Hypertrophic Lichen Planus in a Patient with Chronic Hepatitis C
A woman with chronic hepatitis C had a rare skin condition linked to her illness.
research 8273 ACTH-Dependent Cushing's Syndrome due to Metastatic Cervical Cancer: A Case Report
Metastatic cervical cancer can cause rare, severe Cushing's syndrome with high risk of death.
research Increased rate of hair keratin gene loss in the cetacean lineage
Cetaceans lost hair genes to adapt to water.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Leukokoria sebagai Tanda Peringatan Penyakit Coats dan Gangguan Retina Lainnya
Leukokoria can signal Coats disease or other retinal issues, requiring early detection to prevent severe outcomes.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Biotinidase deficiency: a survey of 10 cases.
Biotin treatment improves symptoms of biotinidase deficiency, but some neurological damage may be permanent.
research A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
research Cyclosporine-induced alopecia:a case report, FDA adverse event reporting system analysis and literature assessment
Cyclosporine may cause hair loss, so patients need monitoring.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Phospholipase C 1 is required for skin stem cell lineage commitment
Phospholipase Cδ1 is crucial for normal skin and hair development.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Proliferating trichilemmal cyst with histological malignant transformation: Identification of hair sheath keratins in the tumor.
A hair cyst can become cancerous, showing specific keratins from the hair sheath.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Paraneoplastic alopecia associated with internal malignancies in the cat
Some cats with sudden hair loss and tiredness might have cancer-related alopecia.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research The Negative Regulator CXXC5: Making WNT Look a Little Less Dishevelled
CXXC5 is a protein that prevents hair growth and could be a target for hair loss treatment.