research Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
A girl had rickets due to a gene mutation affecting vitamin D response.
Search
for
Sort by
Research
210-240 / 1000+ results
research A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities
A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Responsiveness of the DLQI and the Colombian validated version of the Skindex-29 in scarring and non-scarring alopecia
Telogen effluvium most affects quality of life in alopecia patients.
research Alopecia areata possibly induced by autoimmune reaction in a patient with human T‐cell lymphotropic virus‐1‐associated myelopathy
Autoimmune reactions may cause both alopecia areata and HAM.
research 051 γδ T cells as novel players in alopecia areata pathobiology: Vδ1 + T lymphocytes may recognize “stressed” hair follicle keratinocytes, leading to IFNγ-dependent hair follicle dystrophy and immune privilege collapse
Targeting specific T cells may help treat alopecia areata.
research Hair root studies in patients suffering from primary and secondary syphilis
Syphilis patients showed abnormal hair root changes, with no difference between primary and secondary stages.
research Upregulation of genes orchestrating keratinocyte differentiation, including the novel marker gene ID2, by contact sensitizers in human bulge‐derived keratinocytes
The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research M2 Macrophage and Extracellular Matrix Genes Are Enriched in High‐Activity Lichen Planopilaris
Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
research scRNA+TCR-seq Reveals the Proportion and Characteristics of Dual TCR Treg Cells in Mouse Lymphoid and Non-lymphoid Tissues
Dual TCR Treg cells are common in various mouse tissues and show diverse characteristics.
research Detection of Type IIHair Keratin Gene in a Family with Monilethrix
A unique gene mutation was found in a family with monilethrix.
research 054 Deep Analysis of CD4+ Trm Cells in Normal and Atopic Dermatitis Human Skin
Certain immune cells in atopic dermatitis skin could be targeted for treatment.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Plucked hair follicles from patients with chronic discoid lupus erythematosus show a disease-specific molecular signature
Plucked hair follicles can help diagnose scalp lupus.
research 0034 Cross-species insights into hair follicle-T cell interactions in discoid lupus erythematosus: A comparison of human, canine and mouse models using spatial transcriptomics
research High migratory activity of dermal sheath cup cells associated with the clinical efficacy of autologous cell-based therapy for pattern hair loss
Cells that move well may improve hair loss treatments by entering hair follicles.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research 177 Chronic graft-versus-host disease exhibits distinct Th1-skewing and barrier abnormalities in the skin
Chronic graft-versus-host disease in the skin shows strong Th1 immune response and unique barrier issues.
research SnapshotDx Quiz: April 2022
Discoid Lupus Erythematosus causes scalp plaques that can lead to hair loss, and antimalarial drugs are effective treatments.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research 042 Characterization of Pathogenic CD8+ T Cells in an adoptive transfer Mouse Model of Alopecia Areata in C3H/HeJ mice
Certain CD8+ T cells attack hair follicles in alopecia areata, suggesting they could be targeted for treatment.
research Analysis of Vitamin D Receptor (VDR) Gene Polymorphisms in Alopecia Areata
Vitamin D receptor gene changes don't affect alopecia areata risk.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research The Phenotype of Circulating Follicular-Helper T Cells in Patients with Rheumatoid Arthritis Defines CD200 as a Potential Therapeutic Target
Targeting CD200 could be a new treatment for rheumatoid arthritis.
research Evaluation of the Relationship between Alopecia Areata and Viral Antigen Exposure
Hepatitis B virus exposure may be linked to increased risk of alopecia areata.
research 120 Identification of post-translationally modified trichohyalin epitopes responsible for triggering autoimmunity in alopecia areata
research Elevation of circulating DNAs of disease-associated cytokines in serum cell-free DNA from patients with alopecia areata
Higher levels of certain DNAs in blood may indicate hair follicle damage in alopecia areata patients.