research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
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750-780 / 1000+ resultsresearch A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research The Development of Several Organs and Appendages Is Impaired in Mice Lacking Sp6
Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
research The Role of Androgen and Androgen Receptor in Skin-Related Disorders
Targeting androgen receptors could be a promising way to treat skin disorders with fewer side effects.
research Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of Two Iranian Siblings
Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
research Calcineurin/Nuclear Factor of Activated T-Cell Pathway in Cutaneous Squamous Cell Carcinoma
The calcineurin/NFAT pathway plays a significant role in the development and growth of a type of skin cancer called cutaneous squamous cell carcinoma.
research Androgen Receptor Ligands: Agonists and Antagonists
Different substances that activate or block the androgen receptor can affect male development and treat conditions like prostate cancer.
research Signal Transducer and Activator of Transcription 5B Deficiency Due to a Novel Missense Mutation in the Coiled-Coil Domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Systemic Lupus Erythematosus: Definitions, Contexts, Conflicts, Enigmas
The document concludes that anti-dsDNA antibodies are not unique to SLE and their use as indicators is doubtful, highlighting the need for better understanding and classification of the disease.
research Expression of Fox-Related Genes in the Skin Follicles of Inner Mongolia Cashmere Goat
Fox genes are important for hair growth and development in cashmere goats.
research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
research Experience of Intravenous Calcium Treatment and Long-Term Responses to Treatment in a Patient with Hereditary Vitamin D-Resistant Rickets Resulting from a Novel Mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
research Alterations in Transcriptome and Antioxidant Activity of Naturally Aged Mice Exposed to Selenium-Rich Rice
Eating selenium-rich rice improved antioxidant activity and signs of aging in mice.
research TCF/Lef1-Mediated Control of Lipid Metabolism Regulates Skin Barrier Function
TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
research Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research In Vivo Function of VDR in Gene Expression: VDR Knock-Out Mice
Vitamin D receptor is crucial for bone health and mineral metabolism.
research The Distribution of Estrogen Receptor Beta Is Distinct to That of Estrogen Receptor Alpha and the Androgen Receptor in Human Skin and the Pilosebaceous Unit
Estrogen Receptor ß (ERß) is the main hormone controller in human skin and hair follicles, not Estrogen Receptor α (ERα) or the Androgen Receptor (AR).
research Hairless Modulates Ligand-Dependent Activation of the Vitamin D Receptor-Retinoid X Receptor Heterodimer
Hairless protein can both repress and activate vitamin D receptor functions, affecting gene regulation.
research Mutations in the Vitamin D Receptor Gene in Four Patients with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
research Nuclear Factor I-C Promotes Proliferation and Differentiation of Apical Papilla-Derived Human Stem Cells In Vitro
NFIC helps human dental stem cells grow and become tooth-like cells.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research Ligand-Independent Actions of the Vitamin D Receptor: More Questions Than Answers
The vitamin D receptor can act without its usual activating molecule, affecting hair growth and skin cancer, but its full range of actions is not well understood.
research The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
IL-1 family cytokines are crucial for skin defense and healing, but their imbalance can cause skin diseases.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Probing Androgen Receptor Co-Factor Selectivity Profiles: A Chemical Tool to Determine Cross-Talk Between Androgen Receptor and Beta-Catenin In Vivo
PF-05314882 selectively activates androgen receptors without much effect on prostate and may help in prostate cancer treatment and hair loss prevention.
research The Antiandrogenic Effect of Finasteride Against a Mutant Androgen Receptor
Finasteride may improve prostate cancer treatment outcomes.
research Improving Selective Androgen Receptor Modulator Discovery and Preclinical Evaluation
We need better ways to test and understand SARMs to make safer and more effective treatments.
research Role of 5α-Reductase in Health and Disease
5α-reductase is essential for male sexual development and its inhibitors have potential in treating various conditions related to hormone action.
research Pharmacology of Different Progestogens: The Special Case of Drospirenone
Drospirenone is a unique progestin with anti-water retention and potential blood pressure benefits, used in birth control and hormone therapy.