research Pseudomonas aeruginosa heme metabolites biliverdin IXβ and IXδ are integral to lifestyle adaptations associated with chronic infection
Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
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research Андрогенетическая алопеция: патогенетические механизмы и подходы к лечению
Androgenic alopecia, a common hair loss condition, is linked to changes in androgen metabolism and genetics, and can be treated with finasteride and minoxidil, but these treatments are only fully effective in 10% of patients.
research Impaired Notch‐MKP ‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research Identification and characterization of genes for skin and hair disorders
New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
research Pathogenesis and management of TRPV3-related Olmsted syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
research Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
Genetic testing is crucial for diagnosing rare hair loss disorders.
research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report
A child with a rare vitamin D-resistant condition improved with treatment.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
Topical minoxidil may help improve hair growth in rare congenital hypotrichosis.
research Role of FGFR2-signaling in the pathogenesis of acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Human Regulatory T Cells: Understanding the Role of Tregs in Select 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 LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research Clinical Snippets
A hormone affects hair growth, certain molecules may prevent skin damage, a skin disease is linked to immune cells, glycerol helps skin hydration, and psoriasis treatment trials need improvement.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
research Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1
Minoxidil improved hair growth in a child with a rare genetic disorder.
research Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
research In This Issue
Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
research Two years of SARS-CoV-2 infection (2019–2021): structural biology, vaccination, and current global situation
Continued vaccine and drug development is crucial due to new virus variants and regional infection spikes.
research The Advances of Broad-Spectrum and Hot Anti-Coronavirus Drugs
We need safe, affordable drugs to fight coronaviruses effectively.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
research Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease
Hidradenitis suppurativa is linked to autoinflammation and immune system issues.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.