research Intermolecular NH 2 -/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in androgen receptor dimerization.
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900-930 / 1000+ resultsresearch INNOVATIVE THERAPIES IN REGENERATIVE MEDICINE AND TRANSPLANTATION
DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research Intermolecular NH2-/Carboxyl-terminal Interactions in Androgen Receptor Dimerization Revealed by Mutations That Cause Androgen Insensitivity
Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
research High-resolution structures of mutants of residues that affect access to the ligand-binding cavity of human lipocalin-type prostaglandin D synthase
Mutations in the enzyme don't significantly change how it binds to its specific substances.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research 259 Scalp hair follicle dermal sheath fibroblasts express genes associated with promotion of skin integrity/wound healing and prevention of autoimmune responses in Recessive Dystrophic Epidermolysis Bullosa
Scalp hair follicle cells help protect and heal skin in certain skin conditions.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research SPRY1 Deficiency in Keratinocytes Induces Follicular Melanocyte Stem Cell Migration to the Epidermis through p53/Stem Cell Factor/C-KIT Signaling
SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
research ISID1448 – Ligand-dependent Wnt signaling attenuates mechanotransduction and protects against wound occlusion-mediated abolishment of hair follicle regeneration
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research Exome analysis for Cronkhite-Canada syndrome: A case report
Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.
research New aspects of galectin functionality in nuclei of cultured bone marrow stromal and epidermal cells: biotinylated galectins as tool to detect specific binding sites
Galectin-1 helps in RNA processing in cell nuclei.
research WISP-1 induced by mechanical stress contributes to the fibrosis and hypertrophy of ligamentum flavum via the Hedgehog-Gli1 signaling
Mechanical stress causes ligament thickening through WISP-1 and Hedgehog signaling.
research CD201+ fascia progenitors choreograph injury repair
CD201+ fascia progenitors are essential for wound healing and could be targeted for treating skin conditions.
research Rancangan televisyen: Menyangga atau menyanggah bahasa dan budaya?
The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
research Connective Tissue Disorders
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research P-017 CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACRONOUS PHEOCHROMOCYTOMA
A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Generating LacZ-reporter transgenic mice to identify α1 (XIX) Collagen (Col19a1) expression in Dermal Papilla Cells
Type XIX Collagen is present in specific skin and hair cells during development.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Partial interchangeability of Fz3 and Fz6 in tissue polarity signaling for epithelial orientation and axon growth and guidance
Fz3 and Fz6 can partially replace each other in tissue polarity and axon guidance.
research ROLLED HAIRS AND HYPERTRICHOSIS
A 15-year-old girl with hypothyroidism had excess hair and skin issues due to blocked hair follicles.
research Keratin 75 Is a Component of the LINC Complex and Has an Essential Role in Mediating the SOX2 Rapid Healing Response during Wound Repair
Keratin 75 is important for fast wound healing and works with SOX2 and the LINC complex to help skin cells move and repair damage.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.
research Spatial Gene Profiling in the Ischemic Heart
A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.