research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
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720-750 / 1000+ results research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Specific mutations in a receptor cause facial abnormalities and hair loss.
research 864 Catalytic-dependent and -independent activities of Polycomb repressive complex 1 differentially regulate skin stem cell specification
PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Werner′s syndrome
Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
research Severe kerion celsi due to Trichophyton mentagrophytes: a case report
Tinea capitis needs systemic treatment to avoid severe outcomes.
research Polycomb repressive complex 2 in adult hair follicle stem cells is dispensable for hair regeneration
Polycomb Repressive Complex 2 is not needed for hair regeneration.
research Idiopathic hypoparathyroidism with extensive intracranial calcification in children
An 11-year-old boy in Saudi Arabia has a rare case of hypoparathyroidism with severe brain calcifications but normal development and no known cause.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
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 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 Protein-losing Enteropathy Exacerbated with the Appearance of Symptoms of Systemic Lupus Erythematosus.
Protein-losing enteropathy worsened with lupus symptoms but improved with prednisolone.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research 484 FDA cleared devices produce inconsistent platelet-rich plasma product
FDA-cleared devices often fail to produce high-quality platelet-rich plasma consistently.
research Endoplasmic reticulum in health and disease: the 12th International Calreticulin Workshop, Delphi, Greece
The workshop discussed the role of a protein called calreticulin in health and disease, its potential as a treatment target, and its possible use as a disease marker.
research Index of Suspicion
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research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research A Rare Case of Severe Acrodermatitis Enteropathica During Covid-19 Lockdown.
A boy with a rare skin condition improved quickly after starting zinc supplements.
research A woman with iatrogenic androgenetic alopecia responding to finasteride
EF and PXE not closely related.
research THE RELATIONSHIP OF SERUM FERRITIN LEVELS, IN FEMALE PATIENTS WITH TELOGEN EFFLUVIUM: A CASE CONTROL STUDY
Low serum ferritin levels are linked to hair loss in women.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
Vitamin C deficiency can persist in high-risk patients despite supplementation.
research Central Centrifugal Cicatricial Alopecia
Hair loss in African American women, caused by hair care, genetics, and environment, needs more research for better treatment.
research Overexpression of the calcium sensing receptor accelerates epidermal differentiation and permeability barrier formation in vivo
Increasing calcium sensing receptor speeds up skin and hair development in mice.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Tyrosinase Depletion Prevents the Maturation of Melanosomes in the Mouse Hair Follicle
Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
research Homeostatic maintenance of the murine corneal epithelium in pathophysiological contexts
Corneal health relies on cell migration and cooperation with the lacrimal gland, not Bmi1+ cells, and Eda gene mutations can cause dry eye disease.