research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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research Hirsutism Due to Bilateral Leydig Cell Tumors
A woman's severe hirsutism was caused by Leydig cell tumors in her ovaries, which improved after surgery.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research The JAK/STAT Signaling Pathway: From Bench to Clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research The Inflammatory Caspases-1 and -11 Mediate the Pathogenesis of Dermatitis in Sharpin-Deficient Mice
Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation
TCDD speeds up skin barrier formation by increasing certain gene expressions.
research The Impact of SARS-CoV-2 and COVID-19 on Male Reproduction and Men's Health
COVID-19 might affect male fertility, but more research is needed to understand the full impact.
research Aberrant Inflammasome Activation as a Driving Force of Human Autoimmune Skin Disease
Faulty inflammasome activation may lead to autoimmune skin diseases and could be a target for new treatments.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients With APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research The Rotterdam Study: 2018 Update on Objectives, Design, and Main Results
The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
research Liposomes in Dermatology Today
Liposomes improve drug delivery and reduce skin irritation in dermatology.
research COVID-19: Understanding Inter-Individual Variability and Implications for Precision Medicine
The conclusion is that individual differences in COVID-19 severity are influenced by factors like age, sex, race, and genetics, which are important for personalized medicine.
research The Murine Hair Follicle Is a Melatonin Target
Melatonin directly affects mouse hair follicles and may influence hair growth.
research Unmet Medical Needs in Chronic, Non-Communicable Inflammatory Skin Diseases
There are still challenges in diagnosing and treating chronic skin diseases, but there is hope for future improvements.
research PI3K-Akt-mTOR and Associated Signaling Pathways as Molecular Drivers of Immune-Mediated Inflammatory Skin Diseases: Update on Therapeutic Strategy Using Natural and Synthetic Compounds
Certain natural and synthetic compounds may help treat inflammatory skin diseases by targeting a specific signaling pathway.
research Novel Janus Kinase Inhibitors in the Treatment of Dermatologic Conditions
JAK inhibitors show promise for treating various skin diseases.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research Tyrosine Kinases in Autoimmune and Inflammatory Skin Diseases
Tyrosine kinases are important in skin autoimmune diseases and could be targets for new treatments.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Episodic Bilateral Corneal Edema Caused by Hair Grooming Gel
research Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Human Regulatory T Cells: Role in Autoimmune Skin Diseases and Post-Transplant Nonmelanoma Skin Cancers
Understanding how Regulatory T Cells work could help create treatments for certain skin diseases and cancers.
research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Prediction of Gain-of-Function and Loss-of-Function Mutations Using Combined Annotation Dependent Depletion
C-scores can help predict gain-of-function and loss-of-function mutations.
research Autosomal Recessive Monilethrix: Novel Variants of the DSG4 Gene in Three Chinese Families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic Congenital Adrenal Hyperplasia
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.