research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
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research Male Fertility and Skin Diseases
Some skin diseases and their treatments can negatively affect male fertility.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Stem Cell-Derived Motor Neurons from Spinal and Bulbar Muscular Atrophy Patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Gene Therapy: Recent Advances and Applications in Dermatology
Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
research Significance of the Polyglutamine Tract Polymorphism in the Androgen Receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Menstrual Disorders in Adolescents
The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
research Polymorphisms in Androgen and Estrogen Receptor Genes: Effects on Male Aging
Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
research Case Report of Schöpf–Schulz–Passarge Syndrome Resulting from a Missense Mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Arabidopsis Retromer Subunit AtVPS29 Is Involved in SLY1-Mediated Gibberellin Signaling
AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.
research Lack of Concordance and Linkage Disequilibrium Among Brothers for Androgenetic Alopecia and CAG/GGC Haplotypes of the Androgen Receptor Gene in Mexican Families
No clear link between specific gene and hair loss in Mexican brothers.
research A Combination of Low-Dose Systemic Etretinate and Topical Calcipotriol/Betamethasone Dipropionate Treatment for Hyperkeratosis and Itching in Olmsted Syndrome Associated with a TRPV3 Mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Lymphocytes, Neuropeptides, And Genes Involved In Alopecia Areata
Alopecia areata is an autoimmune disease where T cells attack hair follicles.
research Hair Manifestations of Systemic Disease
Hair changes can indicate systemic diseases or medication effects.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research Regulatory T Cells in Autoimmune Skin Diseases
Treg dysfunction is linked to various autoimmune skin diseases, and understanding Treg properties is key for new treatments.
research MicroRNAs in the Skin: Role in Development, Homeostasis, and Regeneration
MicroRNAs are important for skin health and could be targets for new skin disorder treatments.
research NEMO Syndrome (Incontinentia Pigmenti) and Systemic Lupus Erythematosus: A New Disease Association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Biomedical Applications of Organoids in Genetic Diseases
Organoids help study and treat genetic diseases, offering personalized medicine and therapy testing.
research Idiopathic Hirsutism: Androgen Role and Treatment Options
The document concludes that more research is needed to understand excessive hair growth in women with normal hormone levels and regular ovulation.
research Transgenerational Transmission of Reproductive and Metabolic Dysfunction in Male Progeny of Polycystic Ovary Syndrome
Sons of mothers with polycystic ovary syndrome (PCOS) have a higher risk of obesity and insulin resistance, possibly due to certain genes and factors passed down from their mothers.
research Considerations in Genetic Counseling of Transgender Patients: Cultural Competencies and Altered Disease Risk Profiles
Genetic counselors should be culturally skilled and aware of transgender patients' unique health risks and needs.
research Adverse Reactions to Biologic Medications Used in Allergy and Immunology Diseases
Biologic therapies can cause various adverse events, but allergy/immunology clinicians can manage them.