research Risk of Autoimmune Diseases in Patients with RASopathies: Systematic Study of Humoral and Cellular Immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
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research Repurposing of Approved Cardiovascular Drugs
Some heart drugs show promise for other conditions, but more research is needed to confirm their effectiveness and safety.
research An Incompletely Penetrant Novel MAFB (p.Ser56Phe) Variant in Autosomal Dominant Multicentric Carpotarsal Osteolysis Syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Endoplasmic Reticulum Stress at the Crossroads of Progeria and Atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research Ocular Manifestation in Progeria: A Case Report
A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
research Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
research Risk of Autoimmune Diseases in Patients with RASopathies: Systematic Study of Humoral and Cellular Immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research Harlequin Ichthyosis
research Intermittent Treatment with Farnesyltransferase Inhibitor and Sulforaphane Improves Cellular Homeostasis in Hutchinson-Gilford Progeria Fibroblasts
Alternating treatment with two drugs could help cells in a rapid aging disease.
research FLCN, A Novel Autophagy Component, Interacts With GABARAP And Is Regulated By ULK1 Phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
research What's New in Dermatological Research?
2011 dermatological research found new skin aging markers, hair loss causes, skin defense mechanisms, and potential for new treatments.
research Management of Pregnancy in a Carrier of the Donohue Mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
research Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Australasian Society for Dermatology Research Meeting, May 2007
The document suggests a bacteria plays a significant role in acne rosacea and that white hair can regain color after transplant, meriting more research on reversing grey hair.
research A New Mutation Resulting in the Truncation of the TRAF6-Interacting Domain of XEDAR: A Possible Novel Cause of Hypohidrotic Ectodermal Dysplasia
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Editors' Picks
ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
research Intratumoral De Novo Steroid Synthesis Activates Androgen Receptor in Castration-Resistant Prostate Cancer and Is Upregulated by Treatment with CYP17A1 Inhibitors
Prostate cancer cells can make their own androgens to activate the androgen receptor, and treatments like abiraterone may increase this ability, suggesting new therapies should target the entire steroid-making pathway.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Concise Review: Wnt Signaling Pathways in Skin Development and Epidermal Stem Cells
Wnt signaling is crucial for skin development and hair growth.
research De Novo Production of Dermal Papilla Cells During the Anagen Phase of the Hair Cycle
New cells are added to the hair's dermal papilla during the active growth phase.
research De Novo Assembly and Annotation of Asiatic Lion (Panthera Leo Persica) Genome
The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
research The De Novo DNA Methyltransferase DNMT3A Is Required for Epidermal Homeostasis
DNMT3A is crucial for healthy skin and hair growth.
research Microenvironmental Reprogramming by Three-Dimensional Culture Enables Dermal Papilla Cells to Induce De Novo Human Hair-Follicle Growth
Growing human skin cells in a 3D environment can stimulate new hair growth.
research Differential Gene Expression Analysis Between Anagen and Telogen of Capra Hircus Skin Based on the De Novo Assembled Transcriptome Sequence
Signaling pathways are crucial for hair growth in goats.
research New Case of Trichorhinophalangeal 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 Beyond Goosebumps: Interactions Between the Hair Follicle, the Arrector Pili Muscle, and the Sympathetic Nerve During Development and Hair Follicle Regeneration
Arrector pili muscle regulates hair follicle stem cells, DNA methylation needed for hair cycling, and Wnt/B-catenin signaling starts hair growth.
research Transcriptome Analysis Reveals the Genetic Basis Underlying the Development of Skin Appendages and Immunity in Hedgehog (Atelerix Albiventris)
Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
research Transcriptome Analysis Reveals the Genetic Basis Underlying the Development of Skin Appendages and Immunity in Hedgehog (Atelerix Albiventris)
The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB
A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.