research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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research Lichen planus
Lichen planus is a skin condition that can resolve on its own, is linked to hepatitis C, and increases the risk of skin cancer.
research Pattern Baldness: Its Genetics Revisited
Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research Nonclassic congenital adrenal hyperplasia
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
research Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Alopecia frontal fibrosante en el varón: presentación de 12 casos y revisión de la literatura
Frontal Fibrosing Alopecia in men is often missed and can come with symptoms like facial bumps and hair loss on eyebrows and limbs.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research Analyses of histological and transcriptome differences in the skin of short-hair and long-hair rabbits
Hair length in rabbits is linked to differences in lipid metabolism and cell death.
research Frontal fibrosing alopecia developing after hair transplantation for androgenetic alopecia
Hair transplant destroyed by lichen planopilaris.
research Problems in pattern alopecia
Female pattern hair loss diagnosis is challenging and should use dermoscopy and histopathology instead of pattern recognition, as hormones may not always be the cause.
research Lymphatic vessel: origin, heterogeneity, biological functions, and therapeutic targets
Lymphatic vessels are essential for health and can be targeted to treat various diseases.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Toxic shock syndrome: Recent developments in pathogenesis
Toxic shock syndrome is caused by a complex interaction of bacterial toxins and the immune system, and understanding this can help improve diagnosis and treatment.
research Quantitative Models for the Study of Hair Growth in Vivoa
The conclusion is that small hair follicles cause baldness in macaques, and treatments like antiandrogens and minoxidil can prevent hair loss and promote regrowth.
research The relationship between intimacy and subjective health in couples who undergo infertility treatment
Greater intimacy leads to better self-reported health in couples having infertility treatment.
research Hair transplantation for therapy-resistant alopecia areata of the eyebrows: Is it the right choice?
Hair transplantation can effectively treat stable eyebrow hair loss in alopecia areata patients.
research Genetic Polymorphisms of Immunity Regulatory Genes and Alopecia Areata Susceptibility in Jordanian Patients
CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
research Association between DNA Methylation in the Core Promoter Region of the CUT-like Homeobox 1 (CUX1) Gene and Lambskin Pattern in Hu Sheep
DNA methylation likely doesn't cause different lambskin patterns in Hu sheep.
research E-Poster
Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
research A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research The nude gene and the skin
The nude gene is important for skin and hair development.
research Colourless side of the nude mutation: Foxn1 and hair pigmentation
Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.