research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
Search
for
Sort by
Research
570-600 / 1000+ results research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Adaptive minirhizotron for pepper roots observation and its installation based on root system architecture traits
The new microrhizotron tool effectively observes and measures pepper plant roots non-destructively.
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.
research Corticotropin-releasing hormone: An autocrine hormone that promotes lipogenesis in human sebocytes
CRH promotes fat production in skin cells, affecting conditions like acne.
research MSF-VMDNet for multi class segmentation of skin cancer whole slide images using a multi frequency dual encoder network
MSF-VMDNet accurately segments skin cancer images better than existing methods.
research BC05 Technological and clinical demonstration of a skin ageing analysis prototype
The prototype for analyzing skin aging works technically and clinically.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research CUTANEOUS T-CELL LYMPHOMA
The document concludes that DAB389-IL2 is promising for treating refractory cutaneous T-cell lymphoma, but more research is needed on its effectiveness and side effect management.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Cytoplasmic Ca2+ concentrations in intact Merkel cells of an isolated, functioning rat sinus hair preparation
research Calreticulin: non‐endoplasmic reticulum functions in physiology and disease
Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
research Faculty Opinions recommendation of Targeted skin overexpression of the mineralocorticoid receptor in mice causes epidermal atrophy, premature skin barrier formation, eye abnormalities, and alopecia.
Overexpression of a specific receptor in mice skin causes skin thinning, early skin barrier formation, eye issues, and hair loss.
research Redefining hormone resistance in prostate cancer
The conclusion suggests that prostate cancer should be classified by castration status and that new therapies targeting androgen receptor signaling show promise.
research Developmental Regulation of Prion Expression in Cattle and Mouse Embryonic Stem Cells
PrPC is important for neural differentiation in cattle and mouse embryonic stem cells.
research Metabolic dysfunction in female mice with disruption of 5α-reductase 1
Female mice with disrupted 5α-reductase 1 had significant metabolic issues, including stress response problems, insulin resistance, liver fat buildup, and obesity.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research A proposal for a new design: the exposure–crossover design
The "exposure–crossover design" helps assess individual changes in risk after events like car crashes.
research A Multifunctional MOF Heterojunction for Combating Antibiotic Resistance and Promoting Regenerative Immunity
The microreactor effectively fights antibiotic-resistant infections and promotes tissue healing.
research A Multiaxial Bioreactor Integrated with an Environmental Monitoring System for Tissue‐Engineered Skin Grafts
The new bioreactor improves skin grafts by evenly stretching cells and monitoring conditions for better growth.
research 650 Controlling mTORC1 activity as a novel therapeutic strategy for managing human hair growth and pigmentation
Blocking mTORC1 activity with rapamycin could help increase hair pigmentation and growth, potentially reversing gray hair.
research Molluscum Contagiosum in an Epidermoid Cyst
Molluscum contagiosum can occur in epidermoid cysts, especially with prolonged steroid use.
research A COMPARISON OF THE TOXICITIES OF 4-(ETHOXYCARBOPHENYL) RETINAMIDE AND SOME OTHER RETINOIDS
4-(Ethoxycarbophenyl) retinamide is much less toxic than other retinoids.
research New fluorogenic probes for neutral and alkaline ceramidases
New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
research A molecular systems architecture of the mesenchymal stromal cell microenvironment
A systems biology approach helps improve mesenchymal stromal cell therapies by mapping interactions and identifying treatment targets.
research MHC Class I-Like MILL Molecules Are β2-Microglobulin-Associated, GPI-Anchored Glycoproteins That Do Not Require TAP for Cell Surface Expression
MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
research Review paper The use of reflectance confocal microscopy in selected inflammatory skin diseases
Reflectance confocal microscopy is a useful, non-invasive tool for diagnosing some skin diseases, with potential for future improvements.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research The exploration of mitochondrial‐related features helps to reveal the prognosis and immunotherapy methods of colorectal cancer
Mitochondrial features can predict colorectal cancer outcomes and improve immunotherapy.
research Assessment of chemokines MIP-1α and MIP-1 βin Iraqi women with polycystic ovarian syndrome
PCOS is linked to low-grade chronic inflammation.