research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
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180-210 / 1000+ results research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
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 Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Decision‐Making Regarding the Administration of Live Vaccines to Patients With a FOXN1 Heterozygous Missense Variant
Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
research Exploring extracellular vesicles as novel therapeutic agents for intervertebral disc degeneration: delivery, applications, and mechanisms
Extracellular vesicles may help prevent and repair spine disc degeneration.
research The role of vitamin D receptor mutations in the development of alopecia
Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.
research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
research Dimensionality and psychometric analysis of DLQI in a Brazilian population
The DLQI is reliable but may not fully capture the impact of skin conditions on quality of life, especially in emotional and psychological areas.
research Polyomavirus Associated Trichodysplasia Spinulosa in a Pediatric Kidney Transplant Recipient
A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
research In Vivo Role of Vitamin D Receptor Signaling in UVB-Induced DNA Damage and Melanocyte Homeostasis
Vitamin D receptor helps protect skin cells from UV damage and supports their growth.
research Ligand-Independent Vitamin D Receptor Actions Essential for Keratinocyte Homeostasis in the Skin
Non-liganded Vitamin D Receptor is crucial for healthy skin and hair.
research Novel mechanisms for the vitamin D receptor (VDR) in the skin and in skin cancer
Vitamin D receptor helps prevent skin cancer and supports skin health.
research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
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 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 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 Finasteride-associated central retinal vein occlusion
research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research 845 Dermal lymphatic vessels promote hair follicle growth via the BMP inhibitor Sostdc1
Dermal lymphatic vessels help hair growth by affecting hair cycle phases.
research In vivo function of VDR in gene expression-VDR knock-out mice
Vitamin D receptor is crucial for bone health and mineral metabolism.
research Physical and Functional Interaction between the Vitamin D Receptor and Hairless Corepressor, Two Proteins Required for Hair Cycling
Vitamin D receptor and hairless protein are essential for hair growth.
research Genetic association of HLA‐DQB1 and HLA‐DRB1 polymorphisms with alopecia areata in the Italian population
The DQB1*03 allele is linked to higher alopecia areata risk in Italians.
research Disruption of the hedgehog signaling pathway contributes to the hair follicle cycling deficiency in Vdr knockout mice
Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
research Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research The Expression of Vitamin D-Upregulated Protein 1 in Skin and its Interaction with Sciellin in Cultured Keratinocytes
VDUP1 is found in skin and hair follicles, interacts with sciellin, and may help regulate skin cell differentiation.
research Purified Vitexin Compound 1 Inhibits UVA-Induced Cellular Senescence in Human Dermal Fibroblasts by Binding Mitogen-Activated Protein Kinase 1
Vitexin Compound 1 may help reduce skin aging caused by UVA light.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
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.