research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
Search
for
Sort by
Research
540-570 / 1000+ resultsresearch Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
research Inhibition of CISD1 attenuates cisplatin-induced hearing loss in mice via the PI3K and MAPK pathways
Blocking CISD1 reduces hearing loss from cisplatin in mice.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.
research P62 Pre-clinical pharmacological and skin penetration profile of LDE255, a novel and specific Smoothened antagonist
LDE225 is a promising skin-applied treatment for basal cell carcinoma with good skin penetration and effectiveness.
research CRISPR/Cas9-mediated Generation ofCOL7A1-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa
Scientists created cell lines to study a genetic skin disorder using CRISPR technology.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Medicinal Chemistry of Drugs with N-Oxide Functionalities
N-oxides are important in medicine for improving drug properties and targeting.
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 Valence-engineered catalysis-selectivity regulation of molybdenum oxide nanozyme for acute kidney injury therapy and post-cure assessment
A specially designed molybdenum oxide nanozyme can treat and monitor acute kidney injury effectively.
research Formulation, Evaluation and Stability Studies of Dutasteride Loaded Niosomal Gel
The gel effectively delivers dutasteride for hair loss treatment and remains stable for 90 days.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Embryo‐Fetal Developmental Toxicity and Toxicokinetics Studies of YWS1903 , a Novel Potassium‐Competitive Acid Blocker, in Pregnant Rats
YWS1903 is safe for pregnant rats at moderate doses but causes fetal issues at high doses.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Chronic Toxicity Studies of the Potential Cancer Preventive 2-(Difluoromethyl)-dl-ornithine
Lower dosages of 2-(difluoromethyl)-dl-ornithine might reduce side effects, supporting further research.
research Ultrasound-Assisted Facile Synthesis and Anticancer Evaluation of Novel N-(2-substituted phenyl-4-oxathiazolidine-3-carbonothioyl) benzamide
Researchers made new compounds that could potentially be developed into anticancer drugs.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research Nuclear Factor I-C promotes proliferation and differentiation of apical papilla-derived human stem cells in vitro
NFIC helps human dental stem cells grow and become tooth-like cells.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research The 532 nm Laser Treatment Promotes The Proliferation of Tendon-Derived Stem Cells and Up-Regulates Nr4a1 To Stimulate Tenogenic Differentiation
A 532 nm laser helps tendon stem cells grow and become tendon-like by increasing Nr4a1 activity, which may speed up tendon repair.
research Carbon-13 n.m.r. studies of keratin intermediate filament of human hair
Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
research Preparation and Characterization of Soluble Wool Keratin for Human Hair Care
CMADK reduces hair damage from bleaching and permanent waving.
research SbbHLH85, a bHLH Member, Modulates Resilience to Salt Stress By Regulating Root Hair Growth in Sweet Sorghum
The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.
research Devices and genomic therapies
The document's conclusion cannot be provided because the document is not readable or understandable.
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 ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation
A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.
research Thallium poisoning and emergency care:research advances
Thallium poisoning is serious, affecting nerves and organs, and is treated by reducing absorption and removing it from the body.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.