research The Vitamin D Receptor Is Required for Activation of cWnt and Hedgehog Signaling in Keratinocytes
Vitamin D receptor is essential for hair growth signaling.
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research Gene therapy for alopecia in type II rickets model rats using vitamin D receptor-expressing adenovirus vector
Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research P-19 A case of Birt Hogg Dube syndrome presented with parathyroid carcinoma
This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
research Absence of vitamin D receptor (VDR)‐mediated PPARγ suppression causes alopecia in VDR‐null mice
Lack of vitamin D receptor causes hair loss in mice by allowing certain genes to overactivate.
research Hypervitaminosis A in a Patient With Alopecia Receiving Renal Dialysis
Patients with renal disease may develop vitamin A toxicity even with low-dose supplements.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle
Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Follicular Keratosis of the Chin Treated with 1.24R‐Dihydroxyvitamin D3 Ointment
Vitamin D3 ointment improved skin bumps on the chin but didn't give lasting results after stopping use.
research The Vitamin D Receptor as Tumor Suppressor in Skin
Vitamin D and its receptor may help prevent skin cancer.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Topographical and developmental studies on target sites of 1,25 (OH2) vitamin D3 in skin
Vitamin D3 affects cell differentiation in specific skin areas.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis
The vitamin D receptor is essential for normal hair growth, even without its usual binding.
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 First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Targeting Expression of the Human Vitamin D Receptor to the Keratinocytes of Vitamin D Receptor Null Mice Prevents Alopecia
Expressing the human vitamin D receptor in skin cells prevents hair loss in certain mice.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review
DPR can show different hair characteristics, as seen in two brothers with normal hair.
research Vitamin D receptor ablation alters skin architecture and homeostasis of dendritic epidermal T cells
Lack of Vitamin D receptor changes skin structure and increases certain immune cells in the skin.
research Reversible cutaneous hyperpigmentation and nails with white hair due to vitamin B12 deficiency.
Vitamin B12 deficiency can cause skin darkening and white hair, but it's reversible.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Evaluation of Keratinocyte Proliferation and Differentiation in Vitamin D Receptor Knockout Mice*
Alopecia in VDR knockout mice is due to a defect in hair cycle initiation, not keratinocyte issues.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Clinical Snippets
Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
research Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer
Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.