research Pathogenesis in pili torti: morphological study
Pili torti hair twists due to uneven outer root sheath cell development.
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research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research The BLMP-1 transcription factor promotes oscillatory gene expression to achieve timely molting
BLMP-1 is important for regular molting and gene expression cycles in worms.
research PBX homeobox 1 enhances hair follicle mesenchymal stem cell proliferation and reprogramming through activation of the AKT/glycogen synthase kinase signaling pathway and suppression of apoptosis
PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
research The citrullinating enzyme PADI4 governs progenitor cell proliferation and translation in developing hair follicles
PADI4 enzyme slows down cell growth in developing hair follicles.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology
Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
research Morphological analyses in fragility of pili torti with Björnstad syndrome
Pili torti hair is fragile due to loose keratin filaments and weak disulfide bonds.
research Expression of the Orphan Protein Plet-1 during Trichilemmal Differentiation of Anagen Hair Follicles
Plet-1 protein helps hair follicle cells move and stick to tissues.
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 gene is up-regulated in keloid patients, suggesting potential targets for treatment.
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research The Paradox of p53: What, How, and Why?
The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Glypican-1, -4 and 6 Participate in the Hair Follicle Stem Cell Differentiation via Specific Interactions with BMP2R, Fz7 and Patched 1
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Expression analysis of proteasome maturation protein (POMP) gene in Liaoning Cashmere goat
The POMP gene is active in various goat tissues and affects hair growth, with certain treatments influencing its expression.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research A Hairy Cituation – PADIs in Regeneration and Alopecia
Enzymes called PADIs play a key role in hair growth and loss.
research 1410 Single-cell RNA sequencing reveals POUF51 and HES3 as regulators of the stem cell population in psoriasis
POUF51 and HES3 are key in controlling stem cell numbers in psoriasis.
research PAK4 signaling in health and disease: defining the PAK4–CREB axis
PAK4 is crucial in cancer progression, brain development, and could be a therapeutic target, especially through the PAK4-CREB axis.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Structure and hair follicle-specific expression of genes encoding the rat high sulfur protein B2 family
The B2 genes are crucial for hair growth in rats.
research ATP-dependent chromatin remodeling during mammalian development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes
The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
research 0977 Pathogenic hallmarks of primary lymphocyte-mediated scarring alopecia revealed by single nuclear and spatial multiomics
Scarring alopecia involves increased immune cells and specific gene changes near damaged hair follicles.