research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
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research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Down-RANKing the Threat of HSV-1: RANKL Upregulates MHC-Class-I-Restricted Anti-Viral Immunity in Herpes Simplex Virus Infection
RANKL improves the immune response against herpes simplex virus by enhancing T cell activation and could help develop better treatments or vaccines.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Effects of ginsenoside Rb1 on hypertrophic scar remodeling in rabbit model
Ginsenoside Rb1 may help remodel hypertrophic scars effectively at a dose of 0.56 mg.
research Piecing together the pigment-type switching puzzle
The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
research Genetically null mice reveal a central role for epidermal growth factor receptor in the differentiation of the hair follicle and normal hair development.
EGFR is essential for normal hair development and follicle differentiation.
research Hedgehog and Gli Signaling in Embryonic Mammary Gland Development
Hedgehog signaling is crucial for mammary gland development over hair follicles.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Overexpression of parathyroid hormone-related protein in the skin of transgenic mice interferes with hair follicle development.
Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Aberrant Activation of the Hedgehog Pathway in Cutaneous Melanoma: Therapeutic Potential of Pharmacological Inhibitors
Hedgehog pathway inhibitors could be effective in treating melanoma.
research The effect of inflammatory cytokines on the risk of hypertrophic scar: A Mendelian Randomization Study
Certain proteins can either protect against or increase the risk of hypertrophic scars.
research 139 Anti-BCC efficacy of a topical hedgehog inhibitor without adverse effects in BCNS patients in a phase 2 randomized controlled trial
Topical patidegib gel effectively treats basal cell carcinoma in Gorlin syndrome patients without causing the side effects seen with oral treatments.
research Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
A gene mutation causes early keratinocyte maturation leading to hair loss in Olmsted syndrome.
research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research RNase L represses hair follicle regeneration through altered innate immune signaling
RNase L hinders hair follicle regeneration by altering immune signals.
research Matriptase-2, A Novel Suppressor of Hepcidin.
Matriptase-2 helps control iron levels by suppressing hepcidin, and its deficiency can cause iron-deficiency anemia.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
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 Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Altered skin development and impaired proliferative and inflammatory responses in transgenic mice overexpressing the glucocorticoid receptor
Overexpressing the glucocorticoid receptor in mice leads to abnormal skin development and reduced inflammation.
research 457 Impact of alpha-melanocyte-stimulating hormone on mitochondrial function in human dermal fibroblasts
Alpha-MSH affects mitochondrial function, and MC1R mutations may increase skin aging.