research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
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research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Primary cicatricial alopecias are characterized by dysregulation of shared gene expression pathways
Similar treatments might work for different types of scarring hair loss.
research First-in-human phase 1 study of ETC-159 an oral PORCN inhbitor in patients with advanced solid tumours.
ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
research Unravelling the link between insulin resistance and androgen excess
AKR1C3 could be a treatment target for metabolic issues in PCOS.
research Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
research Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation
mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research Hair Growth Promoting and Anticancer Effects of p21-activated kinase 1 (PAK1) Inhibitors Isolated from Different Parts of Alpinia zerumbet
Compounds from Alpinia zerumbet may help with hair regrowth and cancer treatment by targeting PAK1.
research Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
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 p53‐dependent transcriptional regulation of EDA2R and its involvement in chemotherapy‐induced hair loss
The study concludes that the EDA2R gene is activated by p53 during chemotherapy but is not necessary for chemotherapy-induced hair loss.
research Ornithine decarboxylase expression in cutaneous papillomas in SENCAR mice is associated with altered expression of keratins 1 and 10.
High ODC and low K1 and K10 may indicate early skin tumors in mice.
research Non-canonical Wnt signaling promotes directed migration of intestinal stem cells to sites of injury.
Special gut cells help stem cells move to and fix injured areas by activating a specific signaling pathway.
research Urokinase is a Positive Regulator of Epidermal Proliferation In Vivo
Urokinase, a type of protein, helps skin cells multiply faster, especially in newborn mice.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research SPT6 maintains epidermal homeostasis by inhibiting an NF-κB-positive feedback loop to prevent excessive inflammation
SPT6 prevents excessive skin inflammation by blocking a feedback loop.
research The human promyelocytic leukemia protein is a tumor suppressor for murine skin carcinogenesis
The PML protein helps prevent skin cancer in mice.
research Cyclin-dependent kinase inhibitors, p21waf1/cip1 and p27kip1, are expressed site- and hair cycle-dependently in rat hair follicles
p21waf1/cip1 and p27kip1 help in hair follicle differentiation in rats.
research Heterogeneity of ornithine decarboxylase expression in 12-O-tetradecanoylphorbol-13-acetate-treated mouse skin and in epidermal tumors
ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
research Characterization of the Promoter Regions of Two Sheep Keratin-Associated Protein Genes for Hair Cortex-Specific Expression
The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
research PPAR-γ Agonists and Their Role in Primary Cicatricial Alopecia
PPAR-γ helps control skin oil glands and inflammation, and its disruption can cause hair loss diseases.
research Central Centrifugal Cicatricial Alopecia Associated With PDL1 Loss and Increased Expression of Caspase 3: A Case Series
CCCA may involve the PD1/PDL1 pathway and increased caspase 3, leading to permanent hair loss.
research ACKR2 limits skin fibrosis and hair loss through IFN‐β
ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.