research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
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research Primary Generalized Glucocorticoid Resistance and Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Proceedings of the RAMI Intern Section Meeting, 18th January 2014
The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
research Transcriptome analysis reveals the genetic basis underlying the development of skin appendages and immunity in hedgehog (Atelerix albiventris)
The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research A preliminary study of finasteride in Tourette syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Desferrioxamine treatment of aceruloplasminemia: Long‐term follow‐up
Finasteride may help reduce symptoms in male Tourette syndrome patients.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis lethargica due to Epstein–Barr virus infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report
The report concludes that PCOS is mainly a condition of excess male hormones and its definition may change as new information is discovered.
research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
research Bone Morphogenetic Proteins and Their Antagonists in Skin and Hair Follicle Biology
Bone Morphogenetic Proteins (BMPs) help control skin health, hair growth, and color, and could potentially be used to treat skin and hair disorders.
research First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases
Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
research Comparison of viral RNA–host protein interactomes across pathogenic RNA viruses informs rapid antiviral drug discovery for SARS-CoV-2
Cepharanthine and Trifluoperazine are effective against SARS-CoV-2.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Inhibition of β-catenin signalling in dermal fibroblasts enhances hair follicle regeneration during wound healing
Blocking β-catenin in skin cells improves hair growth during wound healing.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation
TCDD speeds up skin barrier formation by increasing certain gene expressions.
research Cell Types Promoting Goosebumps Form a Niche to Regulate Hair Follicle Stem Cells
Muscles and nerves that cause goosebumps also help control hair growth.
research Stem cells in tissues, organoids, and cancers
Stem cells are crucial for tissue growth, cancer treatment, and disease modeling, but challenges remain in clinical use.
research Hoxc-Dependent Mesenchymal Niche Heterogeneity Drives Regional Hair Follicle Regeneration
Hoxc genes control hair growth through Wnt signaling.
research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Calcium regulation of stem cells
Calcium is important for stem cell function and maintenance, especially in blood and skin cells.
research Sterol Intermediates of Cholesterol Biosynthesis Inhibit Hair Growth and Trigger an Innate Immune Response in Cicatricial Alopecia
Cholesterol-related compounds can stop hair growth and cause inflammation in a type of scarring hair loss.
research INTERFERONS IN DERMATOLOGY
Interferons are effective for some skin conditions and cancers, but can have side effects and need more research for optimal use.
research Hair follicle regeneration suppresses Ras-driven oncogenic growth
Hair follicle regeneration may slow tumor growth.