research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins
A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
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690-720 / 1000+ resultsresearch Sexuality in Patients with Hidradenitis Suppurativa: Beliefs, Behaviors and Needs
Hidradenitis suppurativa negatively affects patients' sexual lives and relationships, highlighting the need for better support and communication about sexual health.
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 Uncombable hair syndrome and beyond
Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research 42629 Lower Melanoma Specific Survival Among Hispanic Patients in the USA: Analysis of the Surveillance, Epidemiology, and End Results Registry
Hispanic patients in the USA have lower survival rates for melanoma compared to non-Hispanic Whites.
research Hidradenitis Suppurativa: From Physiopathologies to Targeted Therapeutics
Hidradenitis suppurativa is a chronic skin disorder linked to genetics, lifestyle, and immune issues, treatable with medications and surgery.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
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.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research 51826 PRO-C22 - A Novel Serological Biomarker of Tissue Damage is Associated with Disease Severity, Disease Activity, and Systemic Inflammation in Patients with Hidradenitis Suppurativa
PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research A Case of Generalized Hair Follicle Hamartoma Associated with Systemic Lupus Erythematosus
Generalized hair follicle hamartoma can occur with systemic lupus erythematosus.
research Hidradenitis suppurativa and major adverse cardiac events: A systematic review and meta-analysis
People with hidradenitis suppurativa have a higher risk of heart attacks and strokes.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Hemorrhagic cystitis in allogeneic stem cell transplantation: a role for age and prostatic hyperplasia
Older age is the main risk factor for hemorrhagic cystitis after stem cell transplants.
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 Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease
Hidradenitis suppurativa is linked to autoinflammation and immune system issues.
research The Mammalian Hairless Protein as a DNA Binding Phosphoprotein
The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
research Importance of a multi-tiered treatment approach for intellectually and developmentally disabled patients with hidradenitis suppurativa
A multi-tiered treatment approach is crucial for managing hidradenitis suppurativa in patients with intellectual and developmental disorders.
research Update on Hidradenitis Suppurativa (Part I): Epidemiology, Pathogenesis, Severity assessment and Comorbidities
Hidradenitis suppurativa is a chronic skin condition more common in women, linked to genetics and lifestyle factors, and associated with various other health issues.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Pathogenetic Characteristics of Mesenchymal Stem Cells in Hidradenitis Suppurativa
Mesenchymal stem cells in people with Hidradenitis Suppurativa are more inflammatory, possibly contributing to the disease.
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 0877 Activated wound phenotype and microbial dysbiosis are driven by AhR suppression in hidradenitis suppurativa tunnels
Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
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 Expression of the human Cathepsin L inhibitor hurpin in mice: skin alterations and increased carcinogenesis
Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.