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.
10 citations
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December 2015 in “Experimental dermatology” This study found that in mice, EGFR activation suppresses mitotic regulators like Rcc2 and Stathmin 1, facilitating the transition to catagen in hair follicles.
September 2017 in “Journal of Investigative Dermatology” This study found that stabilizing HIF1A in hair follicle cells promoted a shift to glycolysis, potentially reducing oxidative stress and promoting hair growth, particularly in balding dermal papilla cells.
April 2017 in “Journal of Investigative Dermatology” Deleting Crif1 in mouse skin disrupts skin balance and hair growth.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
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.
32 citations
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July 2018 in “FEBS letters” In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.
10 citations
,
September 2021 in “The FASEB Journal” This study found that ACKR2 plays a crucial role in reducing inflammatory skin fibrosis and promoting inflammation resolution through IFN‐β production, limiting tissue scarring.
5 citations
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May 2023 in “Microbial Cell Factories” This study found that a newly produced version of KGF-1 with 135 residues maintained biological activity and could serve as an alternative to the standard 140-residue KGF-1.
5 citations
,
January 1997 in “Birkhäuser Basel eBooks”
January 2025 in “JCEM Case Reports” This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.
28 citations
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March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
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.
21 citations
,
January 1995 in “Molecular Biology Reports” This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
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.
October 2021 in “Scholarworks (University of Massachusetts Amherst)” This dissertation demonstrates that FERONIA regulates essential plant functions such as RAC/ROP signaling, pollen tube reception, cell wall integrity, and sugar signaling as a cell surface receptor kinase.
January 2024 in “Frontiers research topics” This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
31 citations
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February 2007 in “Journal of Structural Biology” Oxidation changes the structure of hair protein filaments, causing them to compact and rearrange.
March 2026 in “Bioengineering & Translational Medicine” This study reported that a modified version of Thymosin beta 4, called PEG-rTβ4, demonstrated potential as a treatment for acute myocardial infarction by improving cardiac function and reducing cell death via specific biochemical pathways, suggesting its promise in drug development efforts.
103 citations
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February 1972 in “Proceedings of the National Academy of Sciences” This study found that a unique transglutaminase in guinea pig hair-follicles, distinct from liver transglutaminase, likely plays a role in forming protein cross-links via ε(γ-glutamyl)lysine bonds.
76 citations
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September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
20 citations
,
January 2017 in “Scientific reports” This study found that cetaceans have adapted their fibroblast growth factors to assist in low bone density, hypoxia tolerance, and the development of rigid flippers, reflecting significant evolutionary changes for aquatic life.
27 citations
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November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
1 citations
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June 2025 in “Frontiers in Genetics” In this study, researchers identified genes IRF2BP2 and EGFR as key to understanding double-coated fleece formation in Hetian sheep, offering insights that may advance machine learning-driven multi-omics selection models in sheep breeding.
2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.