research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
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690-720 / 1000+ results research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Condylomata acuminata of HIV-positive men may harbour focal areas of dysplasia: relevant implications for the management of human papillomavirus-induced disease in high-risk patients
Warts in HIV-positive men can have serious abnormal cell growth, needing careful analysis and treatment to prevent cancer.
research A genomic approach to susceptibility and pathogenesis leads to identifying potential novel therapeutic targets in androgenetic alopecia
Genomic approach finds new possible treatments for hair loss.
research Potential use of human hair shaft keratin peptide signatures to distinguish gender and ethnicity
Keratin peptides in hair might help identify gender and ethnicity.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
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 GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research Evaluation of the relationship between androgenetic alopecia and blood groups and Rhesus factor
No link between hair loss and blood groups or Rhesus factor.
research 26 Characterization of a murine model of aa induced by adoptive transfer of cultured lymph node cells
The study developed a mouse model for Alopecia Areata that responds to treatment, useful for future research.
research LC-MS/MS improves screening towards 21-hydroxylase deficiency
LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
research CAG Repeat Testing of Androgen Receptor Polymorphism: Is This Necessary for the Best Clinical Management of Hypogonadism?
Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
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 Increased blood levels of NKG2D+CD4+ T cells in patients with alopecia areata
NKG2D+CD4+ T cells are higher in alopecia areata patients and may be involved in the disease.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research 1320 Orchestrated cytotoxic and skin migratory ability lacking self-tolerance: circulating γδT-cells may promote alopecia areata
The role of γδT-cells in causing alopecia areata remains unclear.
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 Supplementary Material for: Plasma proteome–driven identification of druggable immune regulators of alopecia areata, validated by transcriptome and single-cell mapping
CD28 is a promising target for treating alopecia areata with belatacept.
research Supplementary Material for: Plasma proteome–driven identification of druggable immune regulators of alopecia areata, validated by transcriptome and single-cell mapping
CD28 is a promising target for treating alopecia areata with belatacept.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
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 A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research A Comprehensive Review of GWASs of Human Hair Traits
Genetic studies on hair traits can improve understanding of health and disease.
research The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research Comparative investigation of immune-related biomarkers related to alopecia areata subtypes
Alopecia areata is linked to immune system differences, with specific biomarkers like CXCL9 and CXCL10 being key for diagnosis and potential treatment targets.