research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
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research The Genetics of Hair Shaft Disorders
The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients With APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Androgen Replacement Therapy in Women
Androgen replacement therapy can improve libido and mood in women with severe androgen deficiency, but more research is needed on its long-term safety.
research A Review on Nanoparticle-Based Herbal Remedies for the Management of Alopecia
Nanoparticle-based herbal remedies could be promising for treating hair loss with fewer side effects and lower cost, but more research is needed.
research Long-Term Expansion and Differentiation of Adult Murine Epidermal Stem Cells in 3D Organoid Cultures
A new 3D culture system helps grow and study mouse skin stem cells for a long time.
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 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 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 Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research Alopecia Areata in a Rhesus Monkey (Macaca Mulatta)
The monkey's hair loss was due to an autoimmune disease, not genetics.
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 Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research Aqueous Extract of Mentha Suaveolens Induces Nrf-2 Activation and Expression of Antioxidant and Detoxifying Enzymes in Human Keratinocyte HaCaT
Mint water extract boosts protective enzymes in skin cells.
research Apoptotic Dysregulation Mediates Stem Cell Competition and Tissue Regeneration
Cells lacking the Bax protein can outcompete others, leading to better tissue repair and hair growth.
research Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation
The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research The Role of Micronutrients in Alopecia Areata: A Review
People with alopecia areata often have lower levels of vitamin D, zinc, and folate, but more research is needed to understand if supplements can help treat it.
research Disruption of the Hedgehog Signaling Pathway Contributes to Hair Follicle Cycling Deficiency in VDR Knockout Mice
Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research Functional Analysis of VDR Gene Mutation R343H in a Child with Vitamin D-Resistant Rickets with Alopecia
The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research The Metabolic Syndrome-Associated Small G Protein ARL15 Plays a Role in Adipocyte Differentiation and Adiponectin Secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Endocannabinoid-Like Molecule Oleoylethanolamide Promotes Sebaceous Lipid Synthesis
Oleoylethanolamide (OEA) safely boosts fat production in skin cells and may help treat dry skin and reduce inflammation.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.