research Ocular aspects in biotinidase deficiency Clinical and genetic original studies
Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
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450-480 / 1000+ resultsresearch Mitochondrial-related genes as prognostic and metastatic markers in breast cancer: insights from comprehensive analysis and clinical models
Mitochondrial genes help predict breast cancer outcomes and spread.
research Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling
Folliculin helps regulate energy and nutrient sensing, impacting Birt–Hogg–Dubé syndrome.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Hairless Up‐Regulates Tgf‐β2 Expression via Down‐Regulation of miR‐31 in the Skin of “Hairpoor” (HrHp) Mice
HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
research Photobiomodulation in 3D tissue engineering
PBM helps improve cell survival in 3D tissue engineering.
research All-in-one polysaccharide hydrogel with resistant vascular burst pressure and cooperative wound microenvironment regulation for fatal arterial hemorrhage and diabetic wound healing
The hydrogel effectively stops bleeding and heals diabetic wounds quickly.
research Upregulation of genes orchestrating keratinocyte differentiation, including the novel marker gene ID2, by contact sensitizers in human bulge‐derived keratinocytes
The ID2 gene can help distinguish between sensitizers and irritants in skin cells.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research GPRC6A-Duox1 Axis Regulates the Hair Cycle Through H2O2 Generation
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Genome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men
A new gene, JMJD1C, may affect testosterone levels in men.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research In vivo response of GsdmA3Dfl/+ mice to topically applied fish oil – effects on cellular markers and macrophages
Fish oil increased cell growth and macrophages in the skin but didn't affect COX-2 expression.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research Cooperation of TGF ‐β and FGF signalling pathways in skin development
TGF-β and FGF pathways are crucial for skin development and regeneration.
research Gfp-Expressing Vascularization of Gelfoam® as a Rapid in Vivo Assay of Angiogenesis Stimulators and Inhibitors
The assay quickly identifies substances that increase or decrease blood vessel growth.
research Abstract 12: LGR6+ Epithelial Stem Cell Augmentation of Fracture Healing
LGR6+ stem cells may improve bone healing.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research 699 Effect of Prostaglandin D 2 on hair follicle growth and its impact on hair follicle stem/progenitor cells
Blocking Prostaglandin D₂ may help treat hair loss.
research Bone morphogenetic protein-2 (BMP-2) transactivates Dlx3 through Smad1 and Smad4: alternative mode for Dlx3 induction in mouse keratinocytes
BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Choroidal Melanoma and Lid Fibrofoliculomas in Birt-Hogg-Dubé Syndrome
A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
research Presentation1.PPTX
Glypican-1 is important for hair follicle blood vessel growth and could be a target for treating hair loss.
research 7DHC and BM15766 treated mice (C57BL/6; n = 5) failed to regrow the hairs.
The treatments stopped hair regrowth in mice.
research 2‐Deoxy‐d ‐glucose enhances tonic inhibition through the neurosteroid‐mediated activation of extrasynaptic GABA A receptors
2-DG reduces seizures by enhancing brain inhibition through specific receptor activation.
research Control of Human Hair Growth by Neurotrophins: Brain-Derived Neurotrophic Factor Inhibits Hair Shaft Elongation, Induces Catagen, and Stimulates Follicular Transforming Growth Factor β2 Expression
Brain-Derived Neurotrophic Factor (BDNF) slows down hair growth and promotes hair follicle regression.
research Case Study: Hereditary Cancer Genetic Testing in Unaffected Patients May Allow for Early Intervention and Aggressive Management
Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.