research Phase separation: a new window in RALF signaling
LLPS is crucial for RALF signaling, aiding plant growth and stress resilience.
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research A Case of Cutaneous Focal Mucinosis With Follicular Induction
A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
research Amphiregulin in Fibrotic Diseases and Cancer
Targeting amphiregulin may improve treatment for fibrosis and cancer.
research The role of fibroblast growth factor receptor 2b in skin homeostasis and cancer development
Fgfr2b helps maintain healthy skin and prevent cancer.
research 057 Single cell RNA and TCR sequencing reveals hyperexpansion of T cell clones and novel regulatory mechanisms of CD8+ T cells in murine alopcecia areata skin and draining lymph nodes
CD8+ T cells expand significantly in alopecia areata, suggesting new treatment targets.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Netherton Syndrome in a 9-Month-Old Child: Unraveling a Complex Dermatologic Disorder
Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
research Peroxisome Proliferator Activated Receptors Gamma Serum levels and Gene Polymorphism in Frontal Fibrosing Alopecia: A Case Control Study
Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
research Decision‐Making Regarding the Administration of Live Vaccines to Patients With a FOXN1 Heterozygous Missense Variant
Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
research PRESEPTAL CELLULITIS DUE TO IMPETIGO – A CASE REPORT OF UNCOMMON PRESENTATION IN PAKISTAN
A woman in Pakistan was diagnosed with Lupus Vasculitis and treated successfully.
research Barraquer–Simons syndrome with benign infundibulocystic proliferation
Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Reversal of Canities in a Patient With Frontal Fibrosing Alopecia
A woman with hair loss condition experienced rare hair color return, suggesting it might help diagnose the condition.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Acquired progressive kinking of the hair in the setting of Parry-Romberg Syndrome
A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
research An unusual presentation of dermatomyositis: The type Wong variant revisited
A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Tinea favosa: psoriasiform favus in bindi area of an adult
An adult had a rare scalp infection in the forehead area, treated successfully with itraconazole.
research Androgen receptor (AR) gene (CAG)n and (GGN)n length polymorphisms and symptoms in young males with long-lasting adverse effects after finasteride use against androgenic alopecia
Gene differences affect finasteride side effects in men with hair loss.
research Derivation and Validation of Systemic Lupus International Collaborating Clinics Classification Criteria for Systemic Lupus Erythematosus
The updated criteria improve the accuracy of diagnosing lupus.
research Teriflunomide: A Once-daily Oral Medication for the Treatment of Relapsing Forms of Multiple Sclerosis
Teriflunomide effectively reduces relapse rates and disease progression in multiple sclerosis but is not safe for use during pregnancy.
research Teriflunomide efficacy, safety and tolerability in patients with relapsing forms of multiple sclerosis
Teriflunomide is effective and generally safe for treating relapsing multiple sclerosis, reducing relapse rates and disability progression.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Skin in Systemic Disease
Skin problems can indicate different diseases inside the body.
research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case
The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
research Drug Repurposing for Rare Diseases
Drug repurposing offers a faster, cheaper way to find treatments for rare diseases.
research Heart Failure Due to Cardiac Transthyretin Amyloidosis
A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.
research Cryptococcoid Sweet syndrome: A case report and literature review
Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
research Systemic lupus erythematosus in a filly.
SLE should be considered in horses with immune-related skin issues.
research 17beta Hydroxysteroid Dehydrogenase Type 3 Inhibitors
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