September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that N-acetyl-GED may protect and partially rescue human hair follicles from experimentally-induced epithelial-mesenchymal transition ex vivo, suggesting its potential in treating scarring alopecias like lichen planopilaris.
July 2020 in “Research Square (Research Square)” In this study, researchers found that girls aged 4-8 years with isolated premature thelarche had significantly advanced bone age, with obesity and elevated serum IGF-1 SDS and DHEAS SDS being key independent risk factors.
131 citations
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March 2004 in “The American journal of pathology” This study found that modulating BMP activity in transgenic mice affects the development and characteristics of several ectodermal organs, such as skin, hair, and claws, highlighting a stage-dependent influence on organogenesis.
2 citations
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January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
1 citations
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May 2022 in “International journal of molecular sciences” This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.
72 citations
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November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
5 citations
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January 2022 in “Health Science Reports” This study observed that GREM2 was specifically and robustly expressed in the dermal sheath cup of hair follicles during various hair cycle phases, suggesting its significant role in regulating hair cycling processes through BMP signaling.
January 2018 in “Murdoch Research Repository (Murdoch University)” This study identified putative causal mutations for PCOS among first-degree relatives, although functional analysis of a specific GDF9 mutation was unsuccessful.
57 citations
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November 2017 in “Nature Communications” This genome-wide association study identified 71 genetic loci linked to male pattern baldness, with 30 novel loci, explaining 38% of the risk and suggesting shared pathways with lifespan and cancer traits.
29 citations
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October 2019 in “Journal of dermatological science” This review explores how cell and mouse models have contributed to understanding the mechanisms of human aging, particularly focusing on Hutchinson-Gilford Progeria Syndrome, and reports no new clinical results.
31 citations
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June 1997 in “International Journal of Dermatology” In this case report, a patient with Hodgkin's disease treated with ABVD chemotherapy became disease-free, and accompanying granuloma annulare skin lesions also improved.
4 citations
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August 2023 in “Journal of Cosmetic Dermatology” Gynostemma pentaphyllum extract may help grow hair and prevent graying.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
2 citations
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July 2023 in “International Journal of Molecular Sciences” This study found that applying a formulation derived from Bacopa procumbens significantly promoted hair growth, pigmentation, and follicular cycle acceleration in mice compared to minoxidil, potentially offering a new therapeutic approach for hair health.
10 citations
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May 2016 in “Journal of Dermatological Science” This study found that PDGF-BB affects human melanocytes differently depending on their differentiation stage, stimulating melanoblast proliferation but inhibiting melanocyte proliferation while promoting their differentiation.
19 citations
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January 2019 in “Animals” This study suggests that PDGFA and BMP2 play a role in the hair follicle cycle in cashmere goats, with PDGFA particularly involved in activating the growth phase.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
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.
4 citations
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June 1998 in “The Journal of Clinical Endocrinology & Metabolism” This study found that keratinocyte growth factor is a potent mitogen in human hyperplastic prostate cells, suggesting it plays an important role in prostate growth by acting in a paracrine manner.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
36 citations
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March 2014 in “Cell death and differentiation” This study indicated that abnormal Bmp signaling in β-catenin gain-of-function mutants is associated with anorectal malformations, shedding light on potential mechanisms underlying these congenital conditions.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
August 1978 in “Archives of Dermatology” This case report details a rare instance of granulomatosis disciformis chronica et progressiva affecting both skin and lymph node tissue in a 31-year-old man.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
16 citations
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January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.