research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
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research N-terminal functional domain of Gasdermin A3 regulates mitochondrial homeostasis via mitochondrial targeting
Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
research Molecular Mechanisms Regulating Hair Follicle Development
Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research Current Progress Regarding Cordyceps militaris, Its Metabolite Function, and Its Production
Cordyceps militaris is a promising, cost-effective medicinal fungus with health benefits and efficient production methods.
research Beard Alopecia: An Updated and Comprehensive Review of Etiologies, Presentation and Treatment
Different causes of beard hair loss have various treatments, including medications, lifestyle changes, and procedures to stimulate hair growth.
research Therapeutic Use of Botulinum Neurotoxins in Dermatology: Systematic Review
Botulinum toxins effectively treat excessive sweating and may help with other skin conditions, but more research is needed.
research Off-Label Use of Botulinum Toxin in Dermatology—Current State of the Art
Botulinum toxin is effective for various skin conditions, but more research and awareness of side effects are needed.
research Mitochondrial Reactive Oxygen Species Promote Epidermal Differentiation and Hair Follicle Development
Mitochondrial reactive oxygen species are essential for skin and hair development.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research GABAAreceptor modulation by neurosteroids in models of temporal lobe epilepsies
Neurosteroids change how GABA_A receptors work in the brain, which could be important for treating temporal lobe epilepsy.
research Clinical Conditions Targeted by OnabotulinumtoxinA in Different Ways in Medicine
OnabotulinumtoxinA is used to treat wrinkles, pain, sweating, hair loss, and more by temporarily paralyzing muscles and affecting pain pathways.
research Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity
Chicken feather gene mutation helps understand human hair disorders.
research Resequencing Analyses Revealed Genetic Diversity and Selection Signatures during Rabbit Breeding and Improvement
Genetic analysis of rabbits identified key genes for traits like coat color, body size, and fertility.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Genome-based analysis of the genetic pattern of black sheep in Qira sheep
Black wool in Qira sheep is linked to specific gene mutations, especially in the TYRP1 gene.
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 Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Analogs of human genetic skin disease in domesticated animals
Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
research Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.