research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
Search
for
Sort by
Research
960-990 / 1000+ results research Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
Biotin deficiency in patients on total parenteral nutrition can cause serious symptoms but can be treated with biotin supplements.
research Characterization and expression analysis of the hair keratin associated protein KAP26.1
research Human KAP Genes, Only the Half of it? Extensive Size Polymorphisms in Hair Keratin-Associated Protein Genes
KAP genes show significant genetic variability, but its impact on hair traits is unclear.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Construction and Verification of Recombinant Follicle-specific Expression Vector
The vector successfully directed specific gene expression in hair follicles.
research 879 Molecular network of Smads and Id2 genes in hair follicle stem cells regulation
The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
research Terrestrial vertebrates have two keratin gene clusters; striking differences in teleost fish
Terrestrial vertebrates have balanced keratin gene clusters, unlike teleost fish.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Clinical Translation of Targeted Protein Degraders
Targeted protein degraders show promise in treating cancer but need to target more diverse proteins.
research Patched1 Functions as a Gatekeeper by Promoting Cell Cycle Progression
Patched1 helps prevent tumors by controlling cell growth.
research Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Genome-wide gene expression dataset used to identify potential therapeutic targets in androgenetic alopecia
Five molecular elements identified as potential future targets for hair loss therapy.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research Identification and single-cell analysis of prognostic genes related to mitochondrial and neutrophil extracellular traps in bladder cancer
Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research Large-Scale Plasma Proteomics and Genetic Integration Uncover Novel Biological Pathways in Male Pattern Baldness
New biological pathways and potential treatment targets for male pattern baldness were identified.
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research 186 Dissecting the role of the common neurotrophin receptor CD271 in the skin: generation and characterization of a novel mouse model with keratinocyte-specific conditional deletion
Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
research Il-10 family members as novel responders to genotoxic stress
IL-19 and IL-24 help cells respond to DNA damage and could be targeted for cancer and age-related disease treatments.
research A Girl with a Novel Splice Site Mutation in <i>VDR</i> Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research Thymic stromal lymphopoietin controls hair growth
Thymic stromal lymphopoietin (TSLP) promotes hair growth, especially after skin injury.
research Treatment of Hair Loss in the Trichorhinophalangeal Syndrome
Hair transplantation successfully treated hair loss in a patient with Trichorhinophalangeal syndrome.
research Discovery Potential Hub Genes and Pathways in Keloid Fibroblast Development Based on Bioinformatics Analysis
Three genes, BMP4, POSTN, and WNT5A, may help treat keloids.
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research 591 Chromatin architectural protein CTCF regulates terminal keratinocyte differentiation in the developing epidermis and hair follicles
CTCF protein is essential for skin and hair follicle development in mice.
research Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
research Monovalent antibody-conjugated lipid-polymer nanohybrids for active targeting to desmoglein 3 of keratinocytes to attenuate psoriasiform inflammation
The targeted nanohybrids effectively reduced psoriasis symptoms and improved skin health.