January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
2 citations
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August 2024 in “Animal Bioscience” This study suggests that m6A-circHECA may influence the physiology of cashmere goats' SHFs both through miRNA pathways and interactions with target proteins, with promoter methylation potentially inhibiting its gene expression.
2 citations
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August 2023 in “Die Dermatologie” This review discusses the molecular pathology of progeroid syndromes and reports no new results; the authors emphasize understanding these mechanisms to develop treatments and potentially improve quality of life for affected individuals.
August 2009 in “Mechanisms of Development”
11 citations
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August 2019 in “Journal of Molecular Histology” This study found that upregulation of NFIC may enhance proliferation and osteogenic/cementogenic differentiation in rat dental follicle cells.
76 citations
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January 1998 in “Mammalian Genome”
1 citations
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January 2021 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that loss of the folliculin protein delays transferrin receptor recycling, leading to iron deficiency and suggesting a role in the mechanisms of Birt-Hogg-Dubé syndrome.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
2 citations
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January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that low temperatures and nitrogen deficiency trigger root hair elongation through a molecular mechanism involving the receptor kinase FERONIA and the TOR Complex 1.
51 citations
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December 2006 in “Mammalian Genome” 47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
1 citations
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October 2025 in “PLoS ONE” In this study, researchers found that overexpression of LncRNA RP11-818O24.3 in hair follicle stem cells promotes their proliferation, self-renewal, and differentiation while inhibiting apoptosis through the FGF2-mediated PI3K/AKT signaling pathway, suggesting potential therapeutic applications for hair loss treatment.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
May 2018 in “The journal of immunology/The Journal of immunology” This study identified that patients with compound heterozygous mutations in FOXN1 exhibited severe T-cell lymphopenia but retained normal hair and nail development, indicating a distinct clinical phenotype from classic FOXN1 cases.
February 2025 in “Journal of Clinical Investigation” This study found that RNase L acts as a regeneration repressor gene in mammals, as seen in Rnasel-/- mice which showed increased regenerative capacity and elevated Wound Induced Hair Neogenesis through enhanced IL-36α signaling, suggesting a tradeoff between regeneration and immune regulation.
December 2024 in “Animals” In this study, researchers found that RORA directly regulates the expression of the Bnip3 gene, which is crucial for hair follicle stem cell health, using rat HFSCs as a model. They propose that targeting RORA could modulate HFSC status.
This research observed that removing RNase L in mice enhances regenerative capacity through increased IL-36 and wound-induced hair neogenesis, highlighting RNase L as a gene that represses regeneration by moderating immune responses during viral infections.
September 2023 in “World Rabbit Science” In this study using Angora rabbits, researchers found that the FRZB gene inhibits hair follicle development by modulating the Wnt/β-catenin signaling pathway, affecting the expression of various genes related to this pathway and altering cell proliferation and apoptosis.
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.
99 citations
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July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
17 citations
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September 2022 in “Genes & Genomics” In this study, researchers identified specific long non-coding RNAs involved in feather development that do not follow traditional genetic inheritance patterns in chickens.
This research found that nod factor can induce root hair reorientation and gene expression in Medicago truncatula with as little as a single molecule, implicating heterotrimeric G-protein signaling in this process.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
Defective protein folding due to a mutation is key in ANE syndrome.
17 citations
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June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
3 citations
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August 2024 in “Molecular Biology Reports” This study found that the lncRNA018392, responsive to melatonin, accelerates cell proliferation in cashmere goats by recruiting the transcription factor SPI1 to upregulate the nearby gene CSF1R, which may explain the molecular mechanisms of cashmere growth.
4 citations
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August 2022 in “Cells” This study found that the lncRNA lncRNA2919 is involved in hair follicle regeneration by downregulating growth-related genes, inhibiting cell proliferation, and promoting apoptosis in rabbit dermal papilla cells.
4 citations
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May 2024 in “Cytotechnology”