April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting the Mitochondrial Pyruvate Carrier in human hair follicles ex vivo activated the integrated stress response, affecting cell proliferation and metabolism.
47 citations
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December 2019 in “Frontiers in immunology” This study identified a novel G207E STING mutation associated with severe inflammatory symptoms and suggested that common polymorphisms in TMEM173 and IFIH1 may modify the phenotype in affected individuals.
January 2008 in “Memorial University Research Repository (Memorial University)” This study found that the NHD domain, but not the PHD domain, of hPygo2 is crucial for Wnt-independent growth of ovarian cancer cells, and identified a key interaction with Treacle protein involved in ribosomal biogenesis.
65 citations
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February 1992 in “Development” This study characterizes a type II keratin intermediate filament gene family involved in early sheep follicle differentiation, detailing gene expression patterns and sequences in hair cortical cells.
18 citations
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August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
101 citations
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September 2006 in “Journal of Biological Chemistry” This research quantified the fidelity of human mitochondrial DNA polymerase and found it averages 1 error in 440,000 nucleotides, impacting its function related to disease and mitochondrial health.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
22 citations
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January 1990
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
1 citations
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January 2020 This study found that Ift20 is essential for hair follicle stem cell identity and hair regrowth, and it regulates keratinocyte migration during wound healing through focal adhesion integrin recycling, independently of ciliogenesis.
248 citations
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September 2006 in “PLANT PHYSIOLOGY” This study observed that extracellular ATP is present in Medicago truncatula and correlates with regions of active cell growth, suggesting its integral role in plant development.
This study found that overexpression of erythropoietin disrupted hair growth in mice by affecting dermal fat lipogenesis and lipolysis, leading to poor hair follicle development and truncal alopecia.
August 2009 in “Mechanisms of Development”
14 citations
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December 2010 in “Journal of human genetics” This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.
34 citations
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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.
30 citations
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October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” This article reviews IFAP syndrome, an X-linked genetic disorder characterized by ichthyosis follicularis, alopecia, and photophobia, and reports no new clinical findings.
Defective protein folding due to a mutation is key in ANE syndrome.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
287 citations
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July 2001 in “Journal of Cell Science” This study mapped 65 intermediate filament genes in the human genome, highlighting that the majority of keratin-related sequences are inactive pseudogenes, notably for keratins 8 and 18.
3 citations
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August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
In this study, researchers observed that IRES/Cap translation initiation increased during caloric stress across cell differentiation states and also unexpectedly rose during normal differentiation processes in mice, with lower IRES/Cap being linked to higher stem cell potential, mediated by PTBP1, a RNA processing protein.
4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
1 citations
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
13 citations
,
November 2005 in “Endocrinology” This study explored the secretion and cellular localization of different forms of follistatin and FST-like-3, revealing variable secretion kinetics and possible intracellular roles, particularly for nuclear FSTL3.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.