10 citations
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May 2020 in “Frontiers in cell and developmental biology” In this study, researchers found that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in post-natal mice.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in bulge stem cells during post-natal development in mice.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
1066 citations
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March 2010 in “Nature Reviews Molecular Cell Biology” This review discusses the potential regulation of signal transduction pathways by microRNAs in animal cells, aiming to identify biological processes that may be influenced by miRNA-mediated regulation, but it reports no new experimental outcomes.
41 citations
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September 2012 in “Cellular and Molecular Life Sciences” This review summarizes the current understanding of microRNAs in skin biology, highlighting their roles in processes like wound-healing and aging, without presenting any new experimental results.
June 2026 in “Frontiers in Immunology” This review synthesizes both traditional and emerging molecular mechanisms of tissue remodeling across different organs, aiming to establish a theoretical basis for precision interventions in pathological conditions, according to the authors.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
3 citations
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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.
March 2022 in “Marmara University Open Access System” This article critically examines the relationship between new media and digital games, emphasizing their cultural and historical contexts, but provides no new empirical findings.
15 citations
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March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.
March 2026 in “Folia Histochemica et Cytobiologica” This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
February 2026 in “Biophysical Journal”
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” This study found that TPA induces apoptosis in pig renal epithelial cells by affecting cell cycle proteins, and activated ras can prevent this process.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
1 citations
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June 2023 in “Animals” In this study, researchers found that overexpression of CRABP2 enhanced the proliferation of dermal papilla cells in Hu sheep through activation of the Wnt/β-catenin pathway, even when the pathway was inhibited.
July 2023 in “International Journal of Molecular Sciences” In this study, Trapa bispinosa Roxb. pericarp extract demonstrated inhibitory effects on 5α-reductase activity both in vitro using LNCaP cells and in vivo in a mouse model of benign prostatic hyperplasia, suggesting its potential role in managing the condition.
72 citations
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January 2003 in “American Journal of Pathology” This study found that the co-activator CBP enhances the agonistic action of hydroxyflutamide on androgen receptors, suggesting a mechanism for therapy resistance in prostate cancer.
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.
1 citations
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February 2025 in “Journal of the Neurological Sciences” This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.
40 citations
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May 2005 in “Journal of Cell Science” In this study, transgenic mice expressing a truncated form of latent transforming growth factor-β-binding protein exhibited altered hair cycles due to increased active transforming growth factor-β, impacting keratinocyte proliferation and hair cycle phases.
35 citations
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September 2012 in “PloS one” This study found that in Arabidopsis seedlings, tonoplast intrinsic proteins are targeted to the vacuole via at least two pathways, including pathways with differing sensitivity to a chemical inhibitor that affect root hair growth and PIN2 targeting.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” In this study, transgenic mice with a truncated latent transforming growth factor-beta-binding protein showed reduced keratinocyte proliferation and alterations in the hair cycle due to mis-localization of transforming growth factor-beta.
9 citations
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November 2013 in “Journal of Investigative Dermatology” This study found that transgenic mice with keratinocyte-specific overexpression of CtBP1 exhibited abnormal hair follicle development, suggesting CtBP1 may play a pathogenic role in hair morphogenesis.
1 citations
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January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that TLR2 is crucial for maintaining hair follicle health and regeneration, and its stimulation by the metabolite CEP may promote hair growth, while decreases in TLR2 and CEP in aging and obesity may hinder hair growth.