September 2017 in “Journal of Investigative Dermatology” Ovol2 is essential for normal skin and hair regeneration.
This study found that the protein Formin 2 helps regulate cell-to-cell transport in thale cress by stabilizing actin filaments at plasmodesmata, with its absence leading to increased permeability and vulnerability to viral infections.
25 citations
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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.
11 citations
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May 2012 in “Genesis” This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.
This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.
April 2018 in “Journal of Investigative Dermatology” This study found that the loss of transcription factor Ovol2 in epidermal and hair follicle stem cells leads to migration defects, which are partially improved by deleting the EMT-inducing Zeb1.
324 citations
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May 2002 in “Oncogene” January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that TGM2 appears to play a crucial role in sebocyte differentiation and may act as a negative regulator of lipid metabolism in sebaceous glands.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
4 citations
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June 2025 in “Medeniyet Medical Journal” This review explores the role of the TMPRSS2 gene in facilitating SARS-CoV-2 infection and its potential as a therapeutic target in COVID-19 and other respiratory infections, highlighting challenges in developing selective inhibitors.
January 2011 in “Anhui nongye kexue” This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
57 citations
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January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
July 2024 in “Journal of Investigative Dermatology” Targeting TCR-Vβ2 in cutaneous T cell lymphoma shows promise for safer, more specific treatment.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
22 citations
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January 2010 in “Humana Press eBooks” This chapter discusses the molecular biology of the vitamin D receptor in gene transcription and reports no new results; it highlights recent findings on receptor activity independent of its usual ligand.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
33 citations
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June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
1 citations
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January 2019 in “British Poultry Science” This study found that specific genes related to vascular endothelial growth factors are critical for feather maturity in certain chicken breeds, identifying key genetic markers that could enhance breeding efficiency.
2 citations
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October 2025 in “Cells” This review discusses the multifunctional role of PKM2 in promoting cardiac repair and regeneration, highlighting its potential as a therapeutic target in cardiovascular medicine, but reports no new experimental results.
September 2016 in “Journal of dermatological science” The researchers reported that the OVOL1-OVOL2 axis may play a role in hair follicle differentiation and tumorigenesis, and OVOL1 and OVOL2 are potential diagnostic markers for pilomatricoma and pilomatrix carcinoma.
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.
14 citations
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January 2016 in “Experimental and molecular pathology” This study found that T cell-deficient mice developed distinct papilloma phenotypes after MmuPV1 infection, and hyperimmune sera transfer could prevent this infection.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.