research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
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810-840 / 1000+ results research Oxytocin receptor expression in hair follicle stem cells of valproic acid-induced rat model of autism: Insights for autism spectrum disorder
Oxytocin receptor changes in hair cells may help identify autism, especially in males.
research Mechanism of TAp73 inhibition by ΔNp63 and structural basis of p63/p73 hetero-tetramerization
ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
research Trichodysplasia spinulosa: A benign adnexal proliferation with follicular differentiation associated with polyomavirus
Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.
research Phosphatase Regulator NIPP1 Restrains Chemokine-Driven Skin Inflammation
NIPP1 is important for healthy skin and could help treat skin inflammation.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
research THY1-mediated mechanisms converge to drive YAP activation in skin homeostasis and repair
Targeting THY1 can improve skin repair and healing.
research 702 dsRNA induces ectopic KRT9 expression via WNT/β-catenin-mediated signaling
Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
research The ZIP7 Gene (Slc39a7) Encodes a Zinc Transporter Involved in Zinc Homeostasis of the Golgi Apparatus
The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research TOR tour to auxin
The plant hormone auxin activates the TOR pathway, affecting gene expression related to growth and cell size.
research TLR3 Activation Stimulates Autophagy Gene Expression in Keratinocytes
Activating TLR3 boosts autophagy gene expression in skin cells.
research Establishment of Tsc2-deficient rat embryonic stem cells
Tsc2-deficient stem cells can help understand and treat TSC-related tumors.
research CRABP1 Enhances the Proliferation of the Dermal Papilla Cells of Hu Sheep through the Wnt/β-catenin Pathway
CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Decision letter: Arabidopsis formin 2 regulates cell-to-cell trafficking by capping and stabilizing actin filaments at plasmodesmata
Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Hairless Up‐Regulates Tgf‐β2 Expression via Down‐Regulation of miR‐31 in the Skin of “Hairpoor” (HrHp) Mice
HR protein causes abnormal hair cycles by increasing Tgf-β2 and reducing miR-31.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research Identification of drug-specific public TCR driving severe cutaneous adverse reactions
Researchers found a specific immune receptor in patients that causes severe skin reactions to a drug.
research Corticotropin-releasing hormone inhibits autophagy by suppressing PTEN to promote apoptosis in dermal papilla cells
CRH causes hair loss by reducing cell survival in hair follicles.
research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis
KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research 560 Isolation of an “early” transit amplifying keratinocyte population in interfollicular human epidermis: a role for CD271 receptor
Scientists found a new type of skin cell that could help with skin repair and these cells work better with a certain protein.
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.