8 citations
,
January 2017 in “Journal of Biological Chemistry” This study found that astrotactin-2 undergoes unique intramembrane proteolysis during maturation, revealing specific transmembrane topologies and substrate sequence requirements for cleavage.
8 citations
,
May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
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.
242 citations
,
February 2016 in “Science” This research found that Foxc1 transcription factor and COL17A1 are critical in regulating quiescence and hair thinning in hair follicle stem cells, with aging-related DNA damage leading to hair loss.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
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.
10 citations
,
November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
15 citations
,
December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
1 citations
,
November 2025 in “Cell Death and Disease” This review discusses the role of various genetic regulators in maintaining human mesenchymal stem cell stemness and highlights strategies for ex-vivo expansion, but reports no new clinical findings.
1 citations
,
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.
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.
August 2022 in “International journal of research in pharmacy and chemistry” This review summarizes the chemical composition and pharmacological properties of Teak (Tectona grandis) but presents no new research findings, emphasizing its use in traditional medicine and therapeutic potentials.
January 2015 in “Durham e-Theses (Durham University)” This study found that glucose starvation and hypoxia are physiological triggers of ER stress in in vitro differentiated adipocytes, rather than high concentrations of saturated fatty acids, cholesterol, or proinflammatory cytokines.
222 citations
,
October 2014 in “Annual Review of Pharmacology and Toxicology” This review discusses the roles of Eph receptors and ephrins in various diseases, highlighting their potential as therapeutic targets, but it presents no new research findings.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.
2 citations
,
June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
January 2014 in “Durham e-Theses (Durham University)” In this study, the activation of Notch1 signaling in keratinocytes was found to play a key role in recruiting immune cells and facilitating skin repair after injury.
76 citations
,
June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
25 citations
,
July 2019 in “Experimental Dermatology” This review discusses the role of cholesterol homeostasis in hair follicle biology and its potential connections to various hair disorders, but it reports no new findings.
1 citations
,
January 2009 in “Trepo - Institutional Repository of Tampere University” This study found that vitamin D regulates cholesterol metabolism and may influence prostate cancer development through mechanisms affecting prostate cell growth and sex hormone metabolism.
25 citations
,
May 2020 in “EMBO reports” This review discusses the potential roles of calcium in the regulation of pluripotent and tissue-specific stem cells but reports no new experimental results, highlighting areas for future research.
19 citations
,
November 2023 in “npj Regenerative Medicine” This study found that synthetic melanin particles applied topically in mouse injury models improved wound healing, showing potential as a therapy for accelerated healing, including in human skin explants.
15 citations
,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.
8 citations
,
June 2024 in “APOPTOSIS” In this review, researchers discussed recent insights into caspases, enzymes initially associated with cell death and inflammation, revealing their broader roles in cell proliferation, migration, and differentiation, and highlighting the importance of caspase knock-out mice for understanding their implications in diseases.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in a mouse model of Leigh syndrome, rapamycin alters brain proteome and may extend survival by targeting protein kinase C.
4 citations
,
December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
1 citations
,
July 2025 in “Frontiers in Endocrinology” This review discusses the dual role of apoptotic vesicles in disease and therapy, emphasizing their potential in cancer treatment and tissue regeneration, but reports no new results.
January 2025 in “Journal of Medical Biochemistry” This review explores the roles of superoxide dismutases in cellular processes and cancer, highlighting the potential of SOD mimetics in enhancing cancer treatment strategies, but it reports no new clinical findings.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
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.