research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
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research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
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 Vitamin D Receptor Gene Polymorphism In Chronic Telogen Effluvium; A Case-Control Study
Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
research A retrospective review of hyperaesthetic leucotrichia in horses in the USA
Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.
research 1373 Expression of programmed cell death 1 inversely correlated with the density of CD8+ T cells infiltrating hair follicles in alopecia areata
Higher PD-1 levels are linked to fewer immune cells in hair follicles in alopecia areata.
research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
research Signs of some hematological diseases with the help of monoclonal antibodies LT-1, LT-2, LT-7
Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Graft-versus-host disease
Graft-versus-host disease is a complication where donor immune cells attack the recipient's body, often affecting the skin, liver, and gastrointestinal tract.
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 Generic vs. Disease-Specific Patient Reported Outcome (PRO) Instruments for Assessing HRQoL Burden Among Patients Diagnosed with Alopecia Areata: Evidence from TARGET-DERM AA
Disease-specific tools better assess quality of life in alopecia areata patients.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Analysis of Vitamin D Receptor (VDR) Gene Polymorphisms in Alopecia Areata
Vitamin D receptor gene changes don't affect alopecia areata risk.
research DAB-labelling for collagen type III and PDGFR as control on equine skin sections.
DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research Comparison of efficacy of diode laser in patients of facial hirsutism with normal dehydroepiandrosterone sulfate and dihydrotestosterone versus deranged dehydroepiandrosterone sulfate and dihydrotestosterone level—A longitudinal study
Diode laser treatment works better for facial hirsutism in patients with normal hormone levels.
research Skin Lesions in a Daclizumab-treated Patient with Multiple Sclerosis
A patient with multiple sclerosis developed skin reactions after Daclizumab treatment, requiring more data on the drug's effects.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Genetic variations associated with response to dutasteride in the treatment of male subjects with androgenetic alopecia
Genetic variations affect dutasteride treatment response for male pattern hair loss.
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 The Use of New Hematological Markers in the Diagnosis of Alopecia Areata
Certain blood markers, especially MLR, can help diagnose alopecia areata.
research Reply to ‘CD123 immunohistochemistry for plasmacytoid dendritic cells is useful in the diagnosis of scarring alopecia’: three PDC-related parameters are useful in differentiating lupus alopecia from LPP
Three characteristics of plasmacytoid dendritic cells help tell apart lupus-related hair loss from LPP.
research Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis
A mutation in the IL2RA gene increases the risk of alopecia areata.
research 24 ARQ-234: a high affinity CD200-Fc fusion protein for the treatment of atopic dermatitis
ARQ-234, a protein designed to treat atopic dermatitis, shows increased effectiveness in early testing.
research 570 Examining cutaneous disease activity as an outcome measure for clinical trials in dermatomyositis
Skin disease activity scores can help decide when skin symptoms no longer affect the quality of life in patients with mild dermatomyositis.
research Chronic graft-versus-host disease – the role of dermatological treatment
Skin issues from chronic graft-versus-host disease greatly affect daily life, needing teamwork between blood and skin doctors.