research HLA-B27 Antigen in Women With Ankylosing Spondylitis
Most women with ankylosing spondylitis tested positive for HLA-B27, suggesting it's useful for diagnosis.
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270-300 / 1000+ results research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks
Skin organoids with NCSTN mutation show changes in hair follicle development and higher inflammation, key features of Hidradenitis Suppurativa.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
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 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 015 Hypopigmented Mycosis Fungoides Progressing to Systemic Involvement- A Case Report and Review of Literature
A 73-year-old woman with Hypopigmented Mycosis Fungoides, a rare skin lymphoma, experienced disease progression despite treatment, emphasizing the need for ongoing monitoring.
research Identification of androgen-regulated genes in SV40-transformed human hair dermal papilla cells
Hsc70 protein may influence hair growth by responding to androgens.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research A new TH17 cytokine in hidradenitis suppurativa: antimicrobial and pro-inflammatory role of IL-26
IL-26 has antimicrobial and pro-inflammatory effects in the chronic skin condition Hidradenitis Suppurativa.
research Keratinocyte-Specific Onset of Serine Protease BSSP Expression in Experimental Carcinogenesis
BSSP may help skin tumors grow and could be a marker or target for skin cancer treatment.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Interleukin‐1 family cytokines and soluble receptors in hidradenitis suppurativa
IL-18 levels are higher in hidradenitis suppurativa patients and may indicate disease severity.
research Faculty Opinions recommendation of Hidradenitis suppurativa as a potential subtype of autoinflammatory keratinization disease.
Hidradenitis suppurativa may be a type of autoinflammatory skin disease linked to gene mutations and immune system issues.
research Proceedings of the Joint CHSF /HSF /EHSF pre‐WCD Hidradenitis Suppurativa Symposium
HS needs personalized treatment plans and more research.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Expression of Keratin 75 (K6hf) in Oral Squamous Cell Carcinoma
Keratin 75 might be important in oral cancer progression.
research Beyond ECMO Survival: Long-Term Symptom Burden and Quality-of-Life Impairment in Hantavirus Cardiopulmonary Syndrome Survivors
Hantavirus survivors often face long-term health issues, needing ongoing care.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research LB922 CyTOF immune profiling uncovers sex- and race-specific differences and cellular biomarkers for biologic response in Hidradenitis suppurativa
Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Sickle Cell Disease Complications and BMI Percentiles of Pediatric Patients
Sickle cell disease affects BMI and pain frequency, with HbSS patients having more pain and unhealthy BMI.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research Single-cell analysis of basal cell carcinoma reveals heat shock proteins promote tumor growth in response to WNT5A-mediated inflammatory signals
Heat shock proteins help basal cell carcinoma grow by responding to inflammation signals.
research Hidradenitis suppurativa secondary to treatment with a gamma secretase inhibitor
A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.