research The effect of DNMTs and MBPs on hypomethylation in systemic lupus erythematosus
Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
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420-450 / 1000+ results research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Acral lymphomatoid papulosis
A woman had a rare skin condition with recurring painful nodules that heal in 6 weeks, often without needing treatment.
research Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
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 LB1667 Successful treatment of rare linear lichen planopilaris with ixekizumab
Ixekizumab may be an effective first treatment for a rare skin condition causing hair loss.
research Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay
Certain genetic variants in keratins increase the risk of tooth decay.
research TYK2 Inhibition with Deucravacitinib Improves Clinical Outcomes and Resolves Interferon-Driven Inflammation in Lichen Planopilaris
Deucravacitinib improves symptoms and reduces inflammation in Lichen Planopilaris.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Nevus Lipomatosus Superficialis With Dilated Hair Follicles
Accurate diagnosis of NLS with dilated hair follicles is crucial to distinguish it from other conditions.
research Lamins in development, tissue maintenance and stress
Lamins are vital for cell survival, organ development, and preventing premature aging.
research Line‐field confocal optical coherence tomography: A new diagnostic method of lichen planopilaris
LC-OCT is an effective new method for diagnosing classic lichen planopilaris.
research Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, p2y5/LPA6
p2y5, now called LPA6, is a receptor important for human hair growth.
research Secondary Syphilis in a 12-Year-Old Girl Misdiagnosed as Pityriasis lichenoides et varioliformis acuta: A Case Report
Syphilis should be considered if PLEVA-like symptoms don't improve with treatment.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research The Suppression of Very Long Chain Fatty Acids Is Associated with Skin Carcinogenesis
Suppressing very long chain fatty acids is linked to skin cancer.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
research An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae
research Investigating the effects of metabolic dysregulation on hair follicles: a comparison of HIV ‐infected women with and without central lipohypertrophy
Central lipohypertrophy in HIV-infected women may lead to shorter eyelashes.
research Lentiviral Arrays for Live-cell Dynamic Monitoring of Gene and Pathway Activity During Stem Cell Differentiation
The lentiviral array can monitor and predict gene activity during stem cell differentiation.
research Future Directions: Gene Polymorphism Diagnostics Relevant to Hair
research Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women
The mtDNA N haplogroup is linked to a higher risk of late-onset lupus and specific symptoms in Han Chinese women.
research 070 Bacillary Load and Reactional States in Leprosy - A Surge in Severity the COVID Era?
The COVID-19 pandemic has led to more severe cases of Leprosy due to delayed medical care.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Lichen myxedematosus in a patient with hepatocellular carcinoma
Removing the liver tumor improved the patient's skin condition and hair growth.
research Perda pilosa por líquen plano pilar após transplante capilar: relato de dois casos e revisão da literatura
Hair transplants can lead to hair loss from lichen planopilaris, and patients should be tested and wait two years before the procedure.
research Structural & functional studies of L-PGDS and SMPDL3A enzymes in lipid signaling family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.