research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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90-120 / 1000+ results research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
research Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib
Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
research Brief study of hypertrichosis
Hypertrichosis causes excessive hair growth and can be managed with treatments like laser, electrolysis, or new topical solutions.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Policistisko olnīcu sindroms pusaudzēm – starppaaudžu, ģenētiskie, dzīves kvalitātes un negausīgas ēšanas aspekti. Promocijas darbs
Adolescents with PCOS have lower quality of life due to diagnosis, binge eating, and body image concerns.
research Comprehensive transcriptome profiling between balding and non-balding scalp of female pattern hair loss in Asian
SFRP2 and PTGDS may be key factors in female hair loss.
research A Study of the androgen receptor gene polymorphism and the level of expression of the androgen receptor in androgenetic alopecia among Egyptians
The study suggests that a specific gene variation and higher gene activity are linked to increased baldness in Egyptian men.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
research Proliferative and Non-Proliferative Lesions of the Rat and Mouse Integument
The project created a standardized system for classifying skin lesions in lab rats and mice.
research Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: An update
The document concludes that mouse models are crucial for studying hair biology and that all mutant mice may have hair growth abnormalities that require detailed analysis to identify.
research Gsdma3 is required for hair follicle differentiation in mice
The Gsdma3 gene is essential for normal hair development in mice.
research Cicatricial Alopecia Research Foundation meeting, May 2016: Progress towards the diagnosis, treatment and cure of primary cicatricial alopecias
The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
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 New Biomarkers to Evaluate Hyperandrogenemic Women and Hypogonadal Men
The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Symmetrical alopecia in the dog
The conclusion is that a systematic approach is key for treating symmetrical alopecia in dogs, but treatment may not always be necessary.
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 Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Does Complement Have a Role in the Pathogenesis of Alopecia Areata?
The complement system might be involved in the development of alopecia areata and could lead to new treatments.
research Trichodystrophies: A hair-raising differential diagnosis
The guide helps doctors diagnose hair problems by suggesting a thorough patient history, physical exams, and various diagnostic tools.
research Deep Hair Phenomics: Implications in Endocrinology, Development, and Aging
A new tool can analyze hair to detect changes due to hormones, genetics, and aging.
research A Clinical Study of 50 Cases of Female Pattern Hair Loss
Genetics, low estrogen, and low iron levels contribute to female hair loss, with specific scalp signs indicating severity.
research <p>DNA phenotyping: current application in forensic science</p>
DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
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 From the Microscopic Sweat Gland to Large Datasets: The Power of Quantitative Traits in Dermatology
Using quantitative traits in genetics can improve understanding and management of skin health and conditions.
research 606 Connecting signaling dynamics with cell fates in live mice
Stem cells control their future role by changing ERK signal timing, affecting tissue regeneration and cancer.