November 2023 in “Biomolecules” In this study involving genetically modified rats, researchers observed that specific mutations in the vitamin D receptor affect calcium levels and bone formation, emphasizing the receptor's role in maintaining healthy bone density and its importance in regulating hair cycle and skin health.
October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the formation and goals of the Pediatric Dermatology Research Alliance (PeDRA) but reports no new clinical results; it emphasizes collaborative research to advance treatment options for pediatric skin disorders.
February 2023 in “International Journal of Molecular Sciences” This study found that exosomes derived from dermal papilla cells can enhance the proliferation of hair follicle stem cells by stimulating the LEF1 pathway, offering insights into hair follicle growth regulation.
660 citations
,
December 2011 in “Cell” This study found that distinct low-threshold mechanoreceptors innervate different hair follicle types in mice, suggesting that these follicles serve as unique mechanosensory structures in touch perception.
475 citations
,
October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
274 citations
,
June 2011 in “Science” In Arabidopsis thaliana, this study found that proper O-glycosylation of extensins is crucial for root hair elongation and self-assembly of the cell wall.
112 citations
,
September 2021 in “BMC Biology” This study found that specific gene expressions during different stages of hair follicle development in Merino sheep are linked to wool-related traits, and may also be relevant to human skin, metabolic, and immune traits.
89 citations
,
April 2023 in “Forensic Science International Genetics” This review summarizes advancements in forensic DNA phenotyping for appearance, ancestry, and age prediction from crime scene samples, reporting no new research findings but highlighting areas needing further research and validation.
72 citations
,
August 2014 in “Genome Biology and Evolution” This study found that the differential expression of α- and β-keratin genes in feathers may explain their morphological and structural diversity, highlighting the chicken as a model for studying keratin-related diseases.
65 citations
,
September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
60 citations
,
December 2003 in “Journal of Investigative Dermatology” This study found that keratin 6hf, a type II keratin, is expressed in specific regions of mouse and human hair and suggests potential interactions with keratin 17, impacting hair development and associated disorders.
59 citations
,
January 2021 in “Genes” This study reports identifying 12 candidate genes potentially involved in regulating hair follicle development in cashmere goats, which could contribute to improving cashmere production.
57 citations
,
January 2019 in “Stem Cell Research & Therapy” OCT4 helps hair stem cells renew and fight aging, potentially aiding hair regrowth.
51 citations
,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.
47 citations
,
April 2021 in “BMC Medical Genomics” This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.
42 citations
,
January 2014 in “BMC Genomics” This study highlights the loss of hair-type keratin genes in cetaceans compared to terrestrial mammals, suggesting a potential adaptive role linked to their hairless phenotype and habitat changes.
35 citations
,
November 2021 in “Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology” This study identified dynamic changes in DNA methylation associated with different growth stages in Tan sheep, which may offer insights to retain their valuable curly fleece as they age.
34 citations
,
July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
33 citations
,
October 2020 in “Frontiers in Cell and Developmental Biology” In this study, researchers found that during zebrafish telencephalon regeneration, the lesioned hemisphere showed distinct gene expression changes and activated Wnt/β-catenin signaling early after injury, suggesting this pathway's significant role in recovery.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” This study found that a newly identified gene, mK17n, may explain the lack of nail issues in mK17 null mice by compensating for mK17's function in the nail bed.
29 citations
,
April 2019 in “Acta neuropathologica communications” This study found that β-sitosterol, a brain-penetrable phytosterol, reduced melanoma cell growth and brain metastasis formation by interfering with mitochondrial respiration, suggesting its potential as an adjuvant therapy to BRAF inhibitors for patients with melanoma brain metastases.
27 citations
,
November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
27 citations
,
June 2020 in “Genes” This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.
26 citations
,
May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
25 citations
,
July 2015 in “EMBO Reports” This study suggests that mouse lineage specification during pre-implantation development involves distinct timing and mechanisms for trophectoderm and inner cell mass differentiation, challenging existing models.
24 citations
,
November 2023 in “Regenerative Biomaterials” In this review, the authors summarized the potential therapeutic effects of metal ions in treating cardiovascular diseases, highlighting their roles in protecting cells, inducing angiogenesis, and adjusting ion channel functions, as well as discussing delivery strategies involving biomaterials.
24 citations
,
May 2022 in “BMC Veterinary Research” This study identified key mRNAs and lncRNAs, along with related pathways, that play potentially important roles in hair follicle development and cycling in cashmere goats.
23 citations
,
June 2023 in “Cell Reports” In this study, researchers used transcriptomics and modeling to uncover previously unknown cell populations and marker genes in developing hair follicles, providing insights into early cell fate establishment and offering tools for further research on skin appendages.
22 citations
,
August 2021 in “Frontiers in medicine” This study found that monocytes/macrophages with a pro-inflammatory M1-like phenotype may play a crucial role in the pathogenesis of hidradenitis suppurativa, suggesting potential therapeutic targets.
22 citations
,
October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.