research DPSCs and SHED in Tissue Engineering and Regenerative Medicine
DPSCs and SHED have great potential for medical treatments and tissue repair.
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90-120 / 1000+ results research Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
research 603 Degradation of aberrant NETs by DNases is a promising therapeutic strategy for SJS/TEN
Using DNase enzymes to break down harmful NETs could be a new treatment for Stevens-Johnson syndrome and toxic epidermal necrolysis.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research SUPEROXIDE DISMUTASE LOADED NIOSOMES DELIVERY TO HAIR FOLLICLES: PERMEATION THROUGH SYNTHETIC MEMBRANE AND GUINEA PIG SKIN
Niosomes can effectively deliver Superoxide Dismutase to hair follicles, potentially helping prevent hair loss.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Sesn2/AMPK/mTOR signaling mediates balance between survival and apoptosis in sensory hair cells under stress
Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
research Formulation of Chitosan-Coated Brigatinib Nanospanlastics: Optimization, Characterization, Stability Assessment and In-Vitro Cytotoxicity Activity against H-1975 Cell Lines
The new Brigatinib nanocarrier is more effective against lung cancer cells than the free drug.
research A Nano-Pharmaceutical Formula of Quercetin Protects from Cardiovascular Complications Associated with Metabolic Syndrome
A nano-formula of quercetin effectively improves heart health in metabolic syndrome.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
Deleting the CDSN gene causes severe skin and hair problems, leading to death.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Advances in the genetic understanding of hypohidrotic ectodermal dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research Antagonism of NMDA receptors as a potential treatment for Down syndrome: a pilot randomized controlled trial
Memantine may slightly improve memory in people with Down syndrome, but more research is needed.
research A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
research Spherical Nucleic Acids as Emerging Topical Therapeutics: A Focus on Psoriasis
New topical treatment using spherical nucleic acids shows promise in reducing psoriasis inflammation.
research Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.
Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Comparative histomorphometric and transcriptomic analysis reveals potential genetic determinants of pelage variation between hairy and coarse-woolly sheep
Genetic differences in sheep affect wool type, with fat and immune genes influencing hair traits.
research Successful induction of oral tolerance in Netherton syndrome
A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
research 487 Exploring ribosomal RNA modifications and corresponding snoRNAs in human skin cell senescence
Understanding snoRNA regulation may help slow skin aging.
research RNA interference of NtNCED3 reduces drought tolerance and impairs plant growth through feedback regulation of isoprenoids in Nicotiana tabacum
Silencing NtNCED3-2 gene in tobacco reduces drought tolerance and impairs growth.
research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.