24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse model study, researchers found that deleting the ASH2L gene in epidermal progenitor cells led to thinner epidermal layers, delayed hair follicle development, and reduced epidermal stem cell pools, with alterations in genes related to hair follicle development and the Notch signaling pathway.
1 citations
,
August 2023 in “Biomolecules & therapeutics” In this study, researchers found that recombinant human HAPLN1 promoted hair growth in mice and human hair matrix cells by activating specific signaling pathways, suggesting it may offer a potential hair loss treatment with fewer side effects than existing medications.
September 2016 in “Journal of dermatological science” This study found that hair-follicle-associated-pluripotent (HAP) stem cells can be cryopreserved for future use in nerve and spinal cord repair, with human trials being planned.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
9 citations
,
January 1997 in “Horticultura: Revista de industria, distribución y socioeconomía hortícola: frutas, hortalizas, flores, plantas, árboles ornamentales y viveros” In this study, researchers found that the transcriptional program regulated by PRC2 is not necessary for maintaining hair follicle stem cell quiescence and hair regeneration in vivo.
4 citations
,
January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.
32 citations
,
May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
32 citations
,
January 2014 in “Cells tissues organs” This study reports that hair follicle stem cells, termed HAP stem cells, can differentiate into neuronal and glial cells, enhancing nerve repair and locomotor recovery after injury.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
April 2017 in “Journal of Investigative Dermatology” In this study, researchers demonstrated that the Id2 gene acts as a direct target and effector of BMP signaling, playing a key role in maintaining quiescence in hair follicle stem cells in vivo.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
13 citations
,
March 2019 in “PLoS ONE” In this study, the authors developed a modified alkaline-based proteomics protocol that improved the reproducibility of detecting hair proteins, potentially aiding future biomarker discovery.
August 2024 in “Biomolecules & Therapeutics” In this study, the researchers reported that a newly developed PYGL inhibitor, HTPI, enhanced hair growth in an ex-vivo culture by reducing oxidative damage in hDPCs and inhibiting glycogen degradation in hORSCs, showing potential as a treatment for hair loss comparable to minoxidil.
August 2016 in “Journal of Investigative Dermatology” In this ex vivo study, inhibiting Ezh2 with a small molecule slowed human hair growth by decreasing proliferation and increasing apoptosis in the outer root sheath.
April 1996 in “Journal of Dermatological Science”
February 2024 in “Research Square (Research Square)” This study identified SFRP2 and PTGDS as potential biomarkers for female pattern hair loss, finding these genes consistently upregulated in bald hair follicles from all 18 patients, which may contribute to understanding the condition's pathogenesis and developing targeted treatments.
December 2022 in “Biochemical and Biophysical Research Communications” This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
This study suggests that Sonic hedgehog from hair follicles may support the proliferation of dentate neural stem cells in mice through transport by platelets during the perinatal period.
13 citations
,
September 2019 in “EBioMedicine” This study found that Secretory Phospholipase A2-IIA (sPLA2-IIA) promotes proliferation through JNK/c-Jun signaling, distinctively affecting normal stem cells and cancer cells, suggesting it as a potential target for cancer treatment.
75 citations
,
October 2016 in “Genes & Development” This study found that Sonic Hedgehog secreted by hair follicle transit-amplifying cells is essential for dermal adipogenesis and hair follicle growth by acting on adipocyte precursors.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
14 citations
,
January 2012 in “Proteins” This study's molecular dynamics simulations suggest that electrostatic interactions mainly stabilize peptide binding to human hair keratin, with the protein's dielectric constant significantly affecting free energy calculations.