research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
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300-330 / 1000+ resultsresearch Glutathione-S-epoxide transferase in human hair follicles
GSH-T levels in hair follicles are similar in smokers and non-smokers and don't increase with certain treatments.
research Innate lymphoid cells type 1 may be new, non-antigen-specific player in the pathogenesis of alopecia areata
Innate lymphoid cells type 1 may contribute to alopecia areata by damaging hair follicles.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Oxidative DNA Damage Accelerates Skin Inflammation in Pristane-Induced Lupus Model
Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
research Transforming growth factor-β in stem cells and tissue homeostasis
TGF-β is crucial for tissue repair and can cause diseases if not properly regulated.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
research 431 Innate lymphoid cells type 1 may be new, non-antigen-specific player in the pathogenesis of alopecia areata
Innate lymphoid cells type 1 may contribute to alopecia areata.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research GATA3 inhibits proliferation and induces expression of both early and late differentiation markers in keratinocytes of the human epidermis
research γδ17 T cell-stromal networks modulate matrix composition and vascularity in foreign body response
γδ T cells help control tissue scarring and blood vessel growth in response to foreign objects.
research Protein deficiency in a colony of western lowland gorillas (Gorilla g. gorilla)
Gorillas in Gabon improved after protein supplements were added to their diet.
research The Role of gp91phox and the Effect of Tranexamic Acid Administration on Hair Color in Mice
Tranexamic acid turns white hair brown in certain mice by affecting specific proteins.
research Directed Expression of a Chimeric Type II Keratin Partially Rescues Keratin 5-null Mice
A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Efficacy of tip cryotherapy in the treatment of idiopathic guttate hypomelanosis (IGH): a randomized, controlled, evaluator-blinded study
Tip cryotherapy effectively treats idiopathic guttate hypomelanosis with minimal side effects.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Regulation and Role of GLI1 in Cutaneous Squamous Cell Carcinoma Pathogenesis
GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
research 068 Pathogenic Th17 cells, CD8+CD69+CD49a- tissue-resident memory T cells and common γ chain receptor + natural killer cells express more IL-17, compared to IFN-γ, under the foxp3+ memory regulatory T cells-depleted microenvironment in patients with chronic alopecia areata
IL-17 plays a key role in severe hair loss in chronic alopecia areata.
research Identification and Characterisation 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 New Insights into Testosterone Biosynthesis: Novel Observations from HSD17B3 Deficient Mice
Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
research Transglutaminase-3, an esophageal cancer-related gene
Transglutaminase-3 is often reduced in esophageal cancer.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research Multiple endocrine defects in adult-onset Sprouty1/2/4 triple knockout mice
Removing Sprouty genes in mice causes various hormone-related issues but does not increase cancer risk by one year of age.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin
Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
research 572 Development of immunotherapies targeting TCR-Vβ2 for treatment of cutaneous T cell lymphoma
Targeting TCR-Vβ2 in cutaneous T cell lymphoma shows promise for safer, more specific treatment.