research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
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research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research How to Diagnose a Lipodystrophy Syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Defining the Identity of Mouse Embryonic Dermal Fibroblasts
Researchers identified specific genes that are important for mouse skin cell development and healing.
research First Use of Thymus Transplantation Therapy for FOXN1 Deficiency (Nude/SCID): A Report of 2 Cases
Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
research Keratin K15 as a Biomarker of Epidermal Stem Cells
Keratin 15 is not a reliable sole marker for identifying epidermal stem cells because it's found in various cell types.
research Thyroid Diseases and Skin Autoimmunity
Thyroid diseases may contribute to autoimmune skin diseases, and more research is needed on their relationship.
research Twist2 Contributes to Skin Regeneration and Hair Follicle Formation in Mouse Fetuses
Twist2 is essential for scarless skin healing and hair growth in mouse fetuses.
research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Perspectives of Alopecia Behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research Twist2 Contributes to Skin Regeneration and Hair Follicle Formation in Mouse Fetuses
Twist2 is essential for proper skin healing and hair growth in developing mice.
research Genetically Modified Laboratory Mice with Sebaceous Glands Abnormalities
Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
research Dermal Fibroblasts in Cutaneous Development and Healing
Skin cells called dermal fibroblasts are important for skin growth, hair growth, and wound healing.
research Transcriptome Reveals Long Non-Coding RNAs and mRNAs Involved in Primary Wool Follicle Induction in Carpet Sheep Fetal Skin
Certain RNA molecules are important for the development of wool follicles in sheep.
research Immunopathology and Immunotherapy of Inflammatory Skin Diseases
New targeted immunotherapies are improving treatment for inflammatory skin diseases.
research Epidermolysis Bullosa Pruriginosa, Muscular Dystrophy, and Immune-Mediated Myasthenia Gravis in a Patient With Homozygous Nonsense PLEC Mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
Mutations in the PTPRQ gene cause significant balance issues in mice due to hair bundle defects in the inner ear.
research Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures
The study found that immune responses disrupt hair growth cycles, causing hair loss in alopecia areata.
research Alopecia as a Systemic Disease
Hair loss can indicate or worsen with systemic diseases, and treating the underlying condition is important.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research A Null Mutation in the Cystatin M/E Gene of Ichq Mice Causes Juvenile Lethality and Defects in Epidermal Cornification
A gene mutation in mice causes skin defects and early death.
research Phenotypic-Genotypic Expansion of Plectinopathy in a Patient With Muscular Dystrophy and Immune-Mediated Myasthenia Gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.