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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270-300 / 1000+ results research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research Careless Talk Costs Lives: Fibroblast Growth Factor Receptor Signalling and the Consequences of Pathway Malfunction
Fibroblast growth factor receptor signaling controls cell development and repair, and its malfunction can cause disorders and cancer, but it also offers potential for targeted therapies.
research The Population Dynamics of Cancer: A Darwinian Perspective
Cancer development is like natural selection, involving mutated cells and environmental factors.
research Mutant Laboratory Mice With Abnormalities in Hair Follicle Morphogenesis, Cycling, and 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 Roles of Tumor Suppressors in Regulating Tumor-Associated Inflammation
Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.
research Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
Thymic transplantation normalized some T-cells but not others, maintaining immune function.
research Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism
People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of KRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Consequences of Steroid-5α-Reductase Deficiency and Inhibition in Vertebrates
Lack or blocking of SRD5a, a key component in hormone creation, can lead to conditions like pseudohermaphrodism and affect hair growth, bone mass, muscle strength, and reproductive health. More research is needed on its regulation from fertilization to adulthood.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Molecular Genetics of Alopecias
Scientists have found specific genes linked to different hair loss conditions, which could lead to new treatments.
research Molecular Evolution of HR, a Gene That Regulates the Postnatal Cycle of the Hair Follicle
Changes in the HR gene have influenced hair growth and may lead to hair loss conditions in humans.
research Hair Matters in Melanoma Biology
The document concludes that the immune-inhibitory environment of the hair follicle may prevent melanoma development.
research Alopecia in Harlequin Mutant Mice Is Associated with Reduced AIF Protein Levels and Expression of Retroviral Elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
research Hairless-Knockout Piglets Generated Using CRISPR/Cas9 Exhibit Abnormalities in Skin and Thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
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 Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Identification of Llama KRTAP7-1 and KRTAP8-1 Fiber Genes and Polymorphism Screening
Mutations in specific llama genes may affect fiber quality for textiles.
research Understanding Cancer Cells of Origin in Cutaneous Tumors
The document concludes that identifying the specific cells where skin cancers begin is important for creating better prevention, detection, and treatment methods.
research The Rho GTPase Exchange Factor Vav2 Promotes Extensive Age-Dependent Rewiring of the Hair Follicle Stem Cell Transcriptome
Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
research Signaling Involved in Hair Follicle Morphogenesis and Development
The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research FGF5 Is a Crucial Regulator of Hair Length in Humans
FGF5 gene mutations cause unusually long eyelashes by affecting hair growth regulation.
research Molecular Epidemiology of Hypospadias: Review of Genetic and Environmental Risk Factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research YAP And TAZ Are Essential For Basal And Squamous Cell Carcinoma Initiation
YAP and TAZ proteins are necessary for the development of two types of skin cancer.
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.