research A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report
Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
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research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Characterization of Novel TMEM173 Mutation with Additive IFIH1 Risk Allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research Characterization of Novel TMEM173 Mutation Causing a Lupus- and SAVI-Like Phenotype, Modified by Polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Study of the Thyroid Profile of Patients with Alopecia
People with hair loss conditions may also have thyroid disorders, but more research is needed to understand the connection.
research Skin, Mucosa and Nail Findings in Hospitalized Pediatric Patients With COVID-19
Many hospitalized children with COVID-19 had skin, mouth, or nail changes, with skin rashes being common.
research Viruses, Variants, and Vaccines: How COVID-19 Has Changed the Way We Look at Skin
COVID-19 and vaccines cause various skin reactions and highlight the need for dermatologists in managing these issues and addressing vaccine distribution disparities.
research JAK Inhibitors: New Players in the Field of Immune-Mediated Diseases Beyond Rheumatoid Arthritis
JAK inhibitors are effective in treating various immune-related diseases, not just rheumatoid arthritis.
research Baricitinib: From Rheumatoid Arthritis to COVID-19
Baricitinib helps treat several diseases, including COVID-19, but has side effects and needs careful monitoring.
research LO-010 Relationship Between The EULAR/ACR Classification Criteria And Organ Damage In Systemic Lupus Erythematosus
Higher EULAR/ACR scores in SLE patients predict more organ damage.
research The Influence of Interferon on Healthy and Diseased Skin
Type I interferons play a key role in the development of various skin diseases.
research Rare and Common Manifestations of COVID-19 in Children
COVID-19 can cause various skin issues in children, mostly not severe, with chilblain-like lesions being common, especially in adolescents.
research Are the Cutaneous Manifestations During or Due to SARS-CoV-2 Infection/COVID-19 Frequent or Not? Revision of Possible Pathophysiologic Mechanisms
Skin problems in COVID-19 patients are rare and may be due to the body's complex immune response or blood clotting issues.
research Dermatological Problems and COVID-19
COVID-19 can cause skin problems and affect dermatology treatments, with recommendations for skin care and cautious use of certain drugs.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Hair Follicle Stem Cell Replication Stress Drives IFI16/STING-Dependent Inflammation in Hidradenitis Suppurativa
Stress in hair follicle stem cells causes inflammation in a chronic skin condition through a specific immune response pathway.
research The Emerging Role of Janus Kinase Inhibitors in the Treatment of Autoimmune and Inflammatory Diseases
Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory diseases.
research The Spectrum of Cutaneous Manifestations in Lupus Erythematosus: A Comprehensive Review
Recognizing specific skin features helps diagnose and manage lupus erythematosus effectively.
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 Application of Baricitinib in Dermatology
Baricitinib shows promise as a new treatment for certain skin conditions like alopecia areata.
research Ideal JAK Inhibitor for Alopecia Areata: Baricitinib, Tofacitinib, Ritlecitinib, or Ifidancitinib - Revisiting the Immunomechanisms of the JAK Pathway
No single ideal JAK inhibitor for alopecia areata has been determined; JAK3 inhibitors may be promising with fewer side effects.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Nonsteroidal Inhibitors of Human Type I Steroid 5α-Reductase
New compounds called benzoquinolinones may treat conditions linked to excess DHT.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain
The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
research Hair-Cycle-Dependent Expression of Parathyroid Hormone-Related Protein and Its Type I Receptor: Evidence for Regulation at the Anagen to Catagen Transition
Parathyroid hormone-related protein helps control hair growth phases in mice.
research Type I Keratin 17 Protein Is Phosphorylated on Serine 44 by p90 Ribosomal Protein S6 Kinase 1 in a Growth- and Stress-Dependent Fashion
Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.