research First Symposium on Natural Gene Therapy of the Skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
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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 Gene Expression During Drosophila Wing Morphogenesis and Differentiation
Key genes are crucial for Drosophila wing development and could be insecticide targets.
research Intermediate Filaments: Regulation of Gene Expression and Assembly
Intermediate filaments are crucial for cell structure and function, regulated by specific genes and proteins.
research Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene
Hairless protein affects hair follicle structure by regulating the Dlx3 gene.
research Missense Mutation Y449H of the K10 Gene in a Patient with Severe Epidermolytic Ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Analysis of the Hybrid Schwannoma and Neurofibroma Including a Case Report of Schwannomatosis Caused by a Mutation in the LZTR1 Gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
Removing the ATR gene in adult mice causes rapid aging and stem cell loss.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research A Distinct Gene Close to the Hairless Locus on Chromosome 8p Underlies Hereditary Marie Unna Type Hypotrichosis in a German Family
A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research A Novel Mutation in the FERMT1 Gene in a Spanish Family with Kindler’s Syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Loss of Adipocyte Phospholipase Gene PLAAT3 Causes Lipodystrophy and Insulin Resistance Due to Inactivated Arachidonic Acid-Mediated PPARγ Signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research The Nude Mutant Gene Foxn1 Is a HOXC13 Regulatory Target During Hair Follicle and Nail Differentiation
HOXC13 is essential for hair and nail development by regulating Foxn1.
research BUZZ: An Essential Gene for Postinitiation Root Hair Growth and a Mediator of Root Architecture in Brachypodium Distachyon
The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
research Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research Study on the Zona Pellucida 4 (ZP4) Gene Sequence and Its Expression in the Ovaries of Patients with Polycystic Ovary Syndrome
The research suggests that the ZP4 gene is linked to egg development in women with PCOS but requires more study to understand its role in infertility.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
research Convergent Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Correction of Hair Shaft Defects Through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research Phase I/IIa Clinical Trial for Recessive Dystrophic Epidermolysis Bullosa Using Genetically Corrected Autologous Keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.