245 citations
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January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
29 citations
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July 2015 in “Journal of Medical Genetics” This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.
18 citations
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January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
November 2024 in “Journal of Investigative Dermatology” In this study, researchers investigated changes in ribosomal RNA modifications associated with stress-induced cellular senescence in human skin cells, identifying potential biomarkers and targets for interventions to mitigate skin aging.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a gene regulatory network in Arabidopsis that controls root hair growth under low-temperature conditions, revealing specific transcription factors and downstream targets that contribute to this growth response despite overall plant development being halted.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
23 citations
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September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse study, NF-κB was shown to play a role in hair follicle cycling and morphogenesis, with specific activity patterns differing by hair type and involving noncanonical signaling for zigzag hair bending.
42 citations
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May 1997 in “The Journal of Biochemistry” In this study, researchers purified and cloned rat peptidylarginine deiminase type III, demonstrating its activity and specific expression in the epidermis and hair follicles.
2 citations
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June 2024 in “Frontiers in Plant Science” This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.
This study found that selective inactivation of ribonucleotide excision repair in mouse epidermis led to spontaneous DNA damage, skin inflammation, and the development of squamous cell carcinoma, suggesting potential implications for cancer development in humans.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
17 citations
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June 2020 in “Animals” This study identified differentially expressed mRNAs and lncRNAs in Hu sheep hair follicles, suggesting certain genes and pathways are involved in the development of wool curvature patterns.
3 citations
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July 2023 in “Cells” This study found that topical application of recombinant human MG53 protein mitigated nitrogen mustard-induced skin injuries in mice by preserving epidermal integrity and hair follicle structure.
April 2024 in “Anais Brasileiros de Dermatologia”
15 citations
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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.
83 citations
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March 1995 in “PLANT PHYSIOLOGY” This study found that the Nod factor from Rhizobium meliloti, particularly at concentrations of 10-8 and 10-7 M, induced specific membrane depolarization and root-hair deformation in Medicago sativa, depending on the stage of cell differentiation.
16 citations
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September 2020 in “Animals” This study found that circRNA-1926 promotes hair follicle stem cell differentiation in cashmere goats by sponging miR-148a/b-3p to increase CDK19 expression.
91 citations
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December 2019 in “The EMBO Journal” This study found that the E3 ligases NEDD4 and NEDD4L regulate intestinal stem cell priming by degrading the LGR5 receptor, and their loss leads to increased Wnt activation and crypt proliferation, which in turn accelerates intestinal tumor progression in mice.
9 citations
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February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
5 citations
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July 2014 in “Molecular Biology Reports” June 2026 in “British Journal of Dermatology” In this case report, researchers observed a Slovakian neonate with a rare EGFR genetic mutation who presented with severe neonatal dermatoses, ichthyosis, and multisystem complications, emphasizing the significance of genetic diagnosis for such complex conditions.
3 citations
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August 2023 in “Genes” This review summarizes current research on molecular pathways, such as Wnt and Notch, that regulate feather follicle development in yellow-feathered broilers, highlighting their potential impact on poultry carcass quality and suggesting areas for future study.
1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
53 citations
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August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
11 citations
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December 2020 in “G3 Genes Genomes Genetics” This study confirmed that chi-miR-130b-3p regulates the proliferation of epithelial cells and dermal fibroblasts by targeting the WNT10A gene, which may help maintain hair follicle structure.
1 citations
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November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.