research Μελέτη της έκφρασης των δεικτών πολυδυναμικότητας στις ιδιοπαθείς φλεγμονώδεις νόσους του εντέρου
OCT4B1 and SOX-2 levels are higher in Crohn's and ulcerative colitis patients, possibly aiding tissue repair.
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270-300 / 1000+ resultsresearch NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Citrullination at the Inflammatory Skin Barrier
A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
research The Function of LPR1 is Controlled by an Element in the Promoter and is Independent of SUMO E3 Ligase SIZ1 in Response to Low Pi Stress in Arabidopsis thaliana
LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
research Complex Regional Pain Syndrome Type I : measurements and treatment
CRPS I is complex, linked to immune and nerve issues, and needs comprehensive treatment.
research Functional characterization of OR51B5 and OR1G1 in human lung epithelial cells as potential drug targets for non-type 2 lung diseases
Blocking certain receptors in the lungs might help treat a specific type of asthma.
research Studying the correlation of renin-angiotensin-system (RAS) components and insulin resistance in polycystic ovary syndrome (PCOs)
The study found a significant link between the renin-angiotensin system and insulin resistance in women with polycystic ovary syndrome.
research Cloning, computational analysis and expression profiling of steroid 5 alpha-reductase 1 (SRD5A1) gene during reproductive phases and ovatide stimulation in endangered catfish, Clarias magur
The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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 Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research The pattern recognition receptor toll-like receptor 3 regulates skin barrier homeostasis
Toll-like receptor 3 helps repair the skin barrier after UV damage.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
A specific gene mutation causes woolly hair and hair loss.
research A functional polymorphism in interleukin-1α (IL1A) gene is associated with risk of alopecia areata in Chinese populations
A certain genetic variation in the IL1A gene may lower the risk of a hair loss condition in Chinese people.
research A SUBPOPULATION OF ITCH RECEPTORS MARKED BY RET EXPRESSION
A new type of nerve cell involved in itch perception was discovered.
research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair
A genetic variant in the KRT25 gene causes tightly curled hair.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research Embryonic NIPP1 depletion in keratinocytes triggers a cell-cycle arrest and premature senescence in adult mice
Deleting NIPP1 in mouse skin cells causes early aging and chronic skin issues.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research P718 Observational real-world evidence on the efficacy and safety of Janus Kinase inhibitors (JAKi) in the treatment of moderate to severe Active Ulcerative Colitis (UC)
Janus Kinase inhibitors are effective and have an acceptable safety profile for treating moderate to severe Ulcerative Colitis.
research Differentiation stage-specific use of cap-independent and cap-dependent translation initiation in hematopoiesis
Low IRES/Cap translation is linked to higher stem cell potential.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research Cutaneous Lesions in the Rat Following Administration of an Irreversible Inhibitor of erbB Receptors, Including the Epidermal Growth Factor Receptor
CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.