research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
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research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Features of the immune status and comorbidities in children with alopecia areata
Children with alopecia areata have immune imbalances and are more likely to have certain health issues.
research Loose anagen hair syndrome presenting as patchy hypotrichosis – clinico-trichoscopic correlation
Early recognition of loose anagen hair syndrome is important to prevent misdiagnosis and unnecessary treatments.
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 [Netherton's syndrome in two sisters].
Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
research Alopecia Areata and Systemic Lupus Erythematosus: Insights From a Nationwide Case–Control Study
Alopecia areata patients are more likely to develop systemic lupus erythematosus.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Validation and casework testing of the BioPlex-11 for STR typing of telogen hair roots
BioPlex-11 improves DNA profiling from telogen hair roots in forensic work.
research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Alopecia areata multiplex following autologous dermal micrograft injection for treatment of androgenetic alopecia
Hair loss treatment caused more hair loss in a man.
research Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors
Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.
research Exploring the effect of hsa-miR-19b-3p on IL-1R1 expression and serum levels in alopecia areata
Higher levels of IL-1R1 and hsa-miR-19b-3p may help diagnose and predict alopecia areata severity.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Interleukin 15 Gene Polymorphism in patients with Alopecia Areata
Targeting IL-15 may help treat Alopecia Areata.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research COMPARAÇÃO ENTRE HPLC E IMUNOTURBIDIMETRIA PARA DOSAGEM DE HEMOGLOBINA GLICADA (A1C) COMO CRITÉRIO DIAGNÓSTICO DE DIABETES MELLITUS
HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Cell Differentiation in Human Anagen Hair and Hair Follicles Studied with Anti-Hair Keratin Monoclonal Antibodies
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Hematological ratios in pediatric patients with alopecia areata based on a nationwide retrospective cohort study
Certain blood cell ratios are higher in kids with alopecia areata and might help predict the disease.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
Hair root sheaths can be used to accurately analyze genetic markers.
research 130 Dermal IgA deposition targeted against Transglutaminase 3 in Dermatitis herpetiformis risk groups
Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.