3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
1 citations
,
July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
25 citations
,
August 2010 in “Journal of Biological Chemistry” This study found that NFI-C plays a crucial role in the transition from the telogen to anagen phase of the hair follicle cycle, affecting hair growth initiation in mice.
6 citations
,
January 2014 in “Genetics and Molecular Research” This study constructed a hair follicle-specific expression vector for IGFBP-5 in Inner Mongolia Cashmere goat cells, allowing for future functional genetic analyses and potential use in nuclear transfer.
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.
3 citations
,
January 1988 66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” This study found that a nonsense mutation in the Cst6 gene of mice leads to severe skin and hair abnormalities, suggesting that cystatin M/E is crucial for epidermal function and viability.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
88 citations
,
December 2003 in “Journal of Biological Chemistry” This study identified epiprofin as a highly tissue-specific nuclear protein that promotes cell proliferation, mainly expressed in the developing teeth, hair follicles, and limbs of embryonic mice.
15 citations
,
August 1991 in “Histochemistry and Cell Biology” Enhancing Factor is found in growing tissues like young mouse intestines and skin but not in adults.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments; linear filaments stabilize fused membranes, while branched filaments, connected by the protein Ezrin, drive integration, demonstrating actin's role in adapting to membrane biophysical changes.
28 citations
,
November 2019 in “Gene” This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
195 citations
,
February 2005 in “Journal of biological chemistry/The Journal of biological chemistry” This study shows that ZIP7 is a functional zinc transporter in mammalian cells, facilitating the movement of zinc from the Golgi apparatus to the cytoplasm.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
3 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.
4 citations
,
February 2021 in “Plant journal” This study found that the protein OsUEV1B is essential for maintaining phosphate balance in rice, with Pi deficiency leading to its inhibition and causing overaccumulation of phosphate in mutants.
1 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
20 citations
,
March 2014 in “Molecular Endocrinology” This study suggests that NFIB and STAT5 work together to control cell-specific genetic programs in mammalian tissues, particularly in mammary and hair follicle stem cells.
6 citations
,
January 2015 in “Biochemical Society Transactions” This review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.
Glycogen helps E. coli cells divide unevenly and organize their contents.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
39 citations
,
December 1998 in “Journal of Cell Science” This study found that the LEF-1 binding site acts as an enhancer element for the wool keratin intermediate filament gene promoter in hair follicle cortex, with specificity regulated by additional factors.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
6 citations
,
June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
5 citations
,
January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
20 citations
,
October 1995 in “Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression” hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
1 citations
,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that a novel gain-of-function mutation in TMEM173, combined with polymorphisms in TMEM173 and IFIH1, results in a distinct clinical phenotype with features of SAVI, including alopecia and photosensitivity.