39 citations
,
December 1998 in “Journal of Cell Science” This study found that the LEF-1 binding site acts as an enhancer element for the wool keratin intermediate filament gene promoter in hair follicle cortex, with specificity regulated by additional factors.
September 2024 in “Egyptian Journal of Medical Human Genetics” This case report adds to the understanding of neurofibromatosis type 1 by documenting an Egyptian child with the condition alongside multiple unusual congenital anomalies, highlighting the importance of considering NF1 when these features are present.
December 2017 in “Annales de dermatologie et de vénéréologie” This article reviews key developments in pediatric dermatology for 2017, including consensus recommendations, novel genetic findings, and treatment insights for conditions like psoriasis and vascular malformations, without providing new clinical trial results.
19 citations
,
June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
May 2020 in “Research Square (Research Square)” This study found that trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting a similar pathogenesis, particularly in those with aggressive clinical courses linked to TP53 mutations.
April 2020 in “Research Square (Research Square)” This study reported genetic mutations in trichilemmal carcinoma similar to those found in other skin cancers, including TP53 mutations associated with aggressive disease.
January 2026 in “Indian Journal of Paediatric Dermatology” This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This case report describes an 8-year-old boy with neurofibromatosis type one presenting with the rare conditions of trichothiodystrophy and retinal atrophy.
13 citations
,
December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
2 citations
,
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.
23 citations
,
January 2022 in “Biomaterials Science” Non-viral vectors show promise for safe and effective CRISPR/Cas9 gene editing in treating diseases.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
7 citations
,
September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
174 citations
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November 2016 in “Cell stem cell” This study found that squamous cell carcinomas from hair follicle stem cells are more prone to epithelial to mesenchymal transition and metastasis than those from interfollicular epidermis, due to distinct chromatin landscapes.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews the connection between PI3K-AKT-mTOR pathway mutations and heritable skin diseases characterized by tissue overgrowth, but it reports no new clinical results.
70 citations
,
January 2014 in “International review of cell and molecular biology” This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.
37 citations
,
November 2017 in “Medical Sciences” This study suggests that melanoma tumor cells exhibit intrinsic plasticity, challenging the applicability of the cancer stem cell model to this malignancy.
3 citations
,
March 2023 in “International journal of molecular sciences” This review discusses the patterns and regulatory mechanisms of keratin expression in various biological conditions and reports no new experimental results.
9 citations
,
February 2022 in “Archives animal breeding/Archiv für Tierzucht” This study found that circRNA-0100 promotes differentiation of secondary hair follicle stem cells into hair lineage in cashmere goats by sequestering miR-153-3p, which enhances KLF5 expression.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
18 citations
,
January 2019 in “Animal Biotechnology” This study found that lncRNA-000133 may play a role in secondary hair follicle reconstruction and cashmere fiber growth in goats, potentially through its interaction with the methylation of its regulatory region and dermal papilla cells.
17 citations
,
March 2012 in “The Journal of Pathology” This article argues that lineage labeling with genetic markers is the gold standard for identifying epithelial stem cells, contrary to the view that in vitro methods alone are sufficient.
12 citations
,
April 2014 in “Molecular Medicine Reports” In this study, transcriptome analysis identified 68 differentially expressed miRNAs in human dermal papilla cells treated with hydrogen peroxide, suggesting they play a significant role in growth arrest and apoptosis.
9 citations
,
June 1999 in “Journal of Investigative Dermatology” This study observed hair-specific transcription of a reporter gene in transgenic mice, with increased expression after dexamethasone and ultraviolet B treatment.
1308 citations
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March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
5 citations
,
January 2023 in “Cell proliferation” This study reported that supplementing rat hair follicle stem cells with chick embryo extract enhanced their migration and proliferation, possibly promoting differentiation toward Schwann cells.
1 citations
,
November 2021 in “Biomedicines” This review elaborates on the concept of cutaneous mosaicism and its link to acneiform conditions, but it reports no new clinical results.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.
3 citations
,
October 2021 in “Clinical, Cosmetic and Investigational Dermatology” This review discusses the epidemiology, risk factors, clinical features, and management of scalp melanomas, highlighting their high mortality rates and specific challenges in diagnosis and treatment; it reports no new research findings.