research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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research Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome
There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
research Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype
A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Mice lacking the epidermal retinol dehydrogenases SDR16C5 and SDR16C6 display accelerated hair growth and enlarged meibomian glands
Mice without certain skin enzymes have faster hair growth and bigger eye glands.
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research DNA Damage-Inducible Transcript 4 Is an Innate Surveillant of Hair Follicular Stress in Vitamin D Receptor Knockout Mice and a Regulator of Wound Re-Epithelialization
Vitamin D receptor is important for regulating hair growth and wound healing in mice.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research MON-218 Inflammatory Role of Sex Steroids in Hidradenitis Suppurativa: An Androgenic Phenotype
Sex hormones may be linked to inflammation in Hidradenitis Suppurativa.
research Adipocyte-Derived Amino Acid Storage Proteins are Required for Germline Stem Cell Maintenance in Adult Drosophila Females
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13
research Lgr6+ cells in the biological system during homeostasis and injury
Lgr6+ cells are important for tissue repair and could be a target for treating cancer and other diseases.
research Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest it Evolved from Keratinocyte Keratins.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix
A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
research Structure and hair follicle-specific expression of genes encoding the rat high sulfur protein B2 family
The B2 genes are crucial for hair growth in rats.
research 11β-hydroxysteroid dehydrogenase type 1 inhibition attenuates the adverse effects of glucocorticoids on dermal papilla cells
Blocking 11β-HSD1 reduces stress hormone damage in hair growth cells.
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research 130 Dermal IgA deposition targeted against Transglutaminase 3 in Dermatitis herpetiformis risk groups
Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
research Identification de 2 polymorphismes génétiques (SNPs) associés aux spondylarthropathies (SpA) dans le locus SPA2 (9q31-34)
research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi
A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Expression of retinoid-X receptors (-Æ,-a,-a) and retinoic acid receptors (-Æ,-a,-a) in normal human skin: an immunohistological evaluation
RXR and RAR proteins in skin may help with cell growth, hair growth, and gland function.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research 1323 Human dermal fibroblasts and mast cell populations are altered in hidradenitis suppurativa, with epithelial-mesenchymal-transition signals ameliorated by spleen tyrosine kinase antagonism.
Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.