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.
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720-750 / 1000+ resultsresearch Integrated Lipidomics in the Secreted Phospholipase A2 Biology
Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
research Iron–Skin Axis: Exploring the Interplay between Iron Homeostasis and Skin Disorders
Iron balance is crucial for skin health, affecting conditions like psoriasis and hair loss.
research Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis
Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
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 Suppression of Vitamin D Receptor and Induction of Retinoid X Receptor α Expression During Squamous Differentiation of Cultured Keratinocytes
As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
research Sex Differences in Animal Models of Sodium-Valproate-Induced Autism in Postnatal BALB/c Mice: Whole-Brain Histoarchitecture and 5-HT2A Receptor Biomarker Evidence
Male mice are more susceptible to autism-like changes from valproic acid than female mice.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Cell type‐specific actions of thyroid hormones in nonalcoholic steatohepatitis and liver fibrosis
Targeting thyroid hormone receptor α in liver cells may help treat liver fibrosis.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Causes and therapeutic limitations of clinical alopecia and the advent of human pluripotent stem cell follicular transplantation
Stem cell technology may improve hair loss treatments by providing more effective and personalized options.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research A Retrospective Study on Alopecia Areata in Children: Clinical Characteristics and Treatment Choices
Alopecia areata in children is usually mild and effectively treated with strong topical steroids.
research Werner's syndrome: incidental finding during pregnancy
A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.
research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
research Effects of age and sex on the comorbidities of alopecia areata: A cross‐sectional hospital‐based study
Alopecia Areata is linked to a higher risk of several diseases, which vary with age and sex.
research Mineral Deficiencies: A Root Cause for Reduced Longevity in Mammals
Not getting enough minerals can lead to health problems and shorter lifespans.
research Acrodermatitis Enteropathica in an adult: a case report
Zinc supplements and diet changes can effectively treat zinc deficiency and prevent complications.
research Interleukin-1 Induces Transcription of Keratin K6 in Human Epidermal Keratinocytes
Interleukin-1 increases keratin K6 production in skin cells.
research Volatile organic compounds: A proinflammatory activator in autoimmune diseases
Volatile organic compounds can cause inflammation and increase the risk of autoimmune diseases.
research Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Monilethrix in three generations
Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
research Postural orthostatic tachycardia syndrome: a dermatologic perspective and successful treatment with losartan.
Losartan may help treat Postural Orthostatic Tachycardia Syndrome (POTS) symptoms.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
research Self-Assembled Peptide Hydrogels in Regenerative Medicine
Peptide hydrogels show promise for healing skin, bone, and nerves but need improvement in stability and compatibility.
research Protective Role of Melatonin and Its Metabolites in Skin Aging
Melatonin, a hormone, can help protect skin from aging by reducing stress, inflammation, and damage, and may also help treat hair loss in women.
research Overview of Nanocosmetics with Emphasis on those Incorporating Natural Extracts
Nanocosmetics with natural extracts offer benefits but need more research on safety and environmental impact.