research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
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research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
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 Regulatory T Cells in Autoimmune Diseases and their Potential
Enhancing regulatory T cells may help treat autoimmune diseases like alopecia areata.
research Berberine-based strategies: novel delivery systems bring out new potential for wound healing
Berberine delivery systems improve wound healing by enhancing bioavailability, reducing inflammation, and promoting tissue regeneration.
research Role of Extracellular Vesicles as Mediators of Cell Communication and Novel Biomarkers in Sepsis
Small extracellular vesicles can help diagnose and manage sepsis.
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 A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research Abdominal-pelvic pain in female patients with endometriosis - a review of the literature
Endometriosis causes abdominal-pelvic pain, and while surgery and treatments help, pain often persists.
research Neonatal screening in Sweden and disease-causing variants in phenylketonuria, galactosaemia and biotinidase deficiency
The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
research Case of alopecia universalis accompanied by minimal change nephrotic syndrome
A possible link exists between minimal change nephrotic syndrome and complete hair loss.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
research Redefining the Skin Barrier: A Microbiome‐Integrated Multilayered Defense Model
A holistic approach is crucial for treating skin disorders and restoring barrier function.
research Emergency Wound Infection Monitoring and Treatment Based on Wearable Electrochemical Detection and Drug Release with Conductive Hydrogel
A new wearable system improves wound healing by monitoring infections and delivering precise treatment.
research 5α Reductase Deficiency—a Rare Cause of Ambiguous Genitalia and Gender Dysphoria
5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
research Interleukin-15 is a hair follicle immune privilege guardian
Interleukin-15 can help hair growth and protect hair follicles.
research A Current Diagnostic and Therapeutic Challenge: Tinea Capitis
Early recognition and treatment of tinea capitis are crucial to prevent severe scalp issues and prolonged therapy.
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 Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Skin amidst COVID ‐19 pandemic
COVID-19 can cause various skin issues, including rashes and 'COVID toes', and may worsen autoimmune diseases or affect men with baldness more severely.
research Alopecia areata as a clinical manifestation of autoimmune inflammation due to vitamin D deficiency
Lack of vitamin D might cause hair loss due to autoimmune problems, and fixing vitamin D levels could help treat it.
research High throughput T cell receptor sequencing identifies clonally expanded CD8+ T cell populations in Alopecia Areata
Expanded CD8+ T cells are linked to Alopecia Areata and may cause relapse after treatment.
research Upadacitinib in the treatment of a patient with the triad of atopic dermatitis, vitiligo, and alopecia areata: a case report and literature review
Upadacitinib effectively treated severe atopic dermatitis, vitiligo, and alopecia areata in one patient.
research Diagnostic Challenges and Treatment Strategies in Neutrophilic Cicatricial Alopecias: A Narrative Review from Conventional Therapies to New Therapeutic Targets
Accurate diagnosis and new therapies are crucial for effectively treating certain types of hair loss.
research Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
research Insights into the context-dependent immunological roles of the CXCL12–CXCR4 axis in alopecia
Blocking the CXCL12–CXCR4 axis may help treat hair loss in alopecia.
research Exploring the association between alopecia areata and thyroid dysfunction: A review
Alopecia areata is linked to thyroid diseases, and thyroid testing may help affected patients.