research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
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600-630 / 1000+ results research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research New-onset Majocchi’s granuloma in two kidney transplant recipients under tacrolimus treatment
Majocchi's granuloma can occur in kidney transplant patients on tacrolimus and can be treated with antifungal medication.
research Cyclin D3 deficiency inhibits skin tumor development, but does not affect normal keratinocyte proliferation
Lacking cyclin D3 reduces skin cancer growth without affecting normal skin cell growth.
research Polyglandular autoimmune syndrome type 4 with GAD antibody and dystonia
Dystonia may be part of PAS-4 and linked to immune issues.
research 661 Recombinant human TSG-6 ameliorates delayed wound healing in mice with diet induced diabetes
Recombinant human TSG-6 speeds up wound healing in diabetic mice.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research Disrupted Ectodermal Organ Morphogenesis in Mice with a Conditional Histone Deacetylase 1, 2 Deletion in the Epidermis
Mice without certain skin proteins had abnormal skin and hair development.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Direct cellular reprogramming enables development of viral T antigen–driven Merkel cell carcinoma in mice
Scientists made a mouse model of a serious skin cancer by changing skin cells with a virus and a specific gene, which is similar to the disease in humans.
research Integrin β1 Establishes Liver Microstructure and Modulates Transforming Growth Factor β during Liver Development and Regeneration
Integrin β1 is crucial for liver structure and function, preventing fibrosis.
research Multimodal profiling reveals site-specific adaptation and tissue residency hallmarks of γδ T cells across organs in mice
γδ T cells adapt uniquely to different tissues in mice.
research 5 alpha-reductase-2 gene mutations in the Dominican Republic.
Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer
Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
research 441 RPGRIP1L facilitates desmosomal adhesion through suppressing PKCβII-mediated desmoglein endocytosis: Implication in pemphigus
RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
research Mutation of a type II keratin gene (K6a) in pachyonychia congenita
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research MON-407 The Double-Edged Sword of Methimazole: Managing Graves' Disease with a Twist
Methimazole can cause severe low platelet count in Graves' disease patients, so monitoring and alternative treatments are important.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Conditional Gene Expression in the Epidermis of Transgenic Mice Using the Tetracycline-Regulated Transactivators tTA and rTA Linked to the Keratin 5 Promoter
The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
research Thymic Mesenchymal Cells Have a Distinct Transcriptomic Profile
Thymic mesenchymal cells have unique gene expression that supports their specific functions in the thymus.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Faculty Opinions recommendation of Expression of truncated latent TGF-beta-binding protein modulates TGF-beta signaling.
Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Cystathionine β‐synthase‐deficient mice thrive on a low‐methionine diet
Mice with CBS deficiency are healthier on a low-methionine diet.
research Diguanoside tetraphosphate (Gp₄G) is an epithelial cell and hair growth regulator.
Gp₄G promotes hair growth and improves skin health.
research Total glucosides of paeony inhibit NLRP3/caspase-1/GSDMD-mediated inflammation and pyroptosis in C3H/HeJ mice with alopecia areata
Total glucosides of paeony may help treat alopecia areata by reducing inflammation and hair loss.