1 citations
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January 2023 in “In vivo/In Vivo” This study suggests that the activation of box A in mesenchymal cell models may enhance stem cell properties, increasing the expression of stemness markers like OCT4, NANOG, and SOX2.
20 citations
,
March 2021 in “Cancers” This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” The review discusses the diverse roles of WNT10B in mammary gland development, immune function, and its potential implications in cancer and regenerative processes, with no new experimental results.
9 citations
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January 2017 in “Annals of Dermatology” In this study of a TRPS type I patient, many genes related to keratin and hair development were down-regulated in balding scalp areas, providing new insights into TRPS and hair morphogenesis.
2 citations
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August 2004 This study found that early diagnosis using gas chromatography/mass spectrometry and appropriate long-term treatment are crucial for improving outcomes in patients with methylmalonic acidemia.
May 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” This study investigated genetic and epigenetic markers for prostate cancer, reporting that certain genotype combinations may influence cancer risk or protection and identifying GSTP1 promoter methylation as a strong prognostic and diagnostic marker linked to tumor aggressiveness.
54 citations
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May 1998 in “Urology” This study demonstrates that patients with benign prostatic hyperplasia have a higher severity and frequency of male pattern baldness compared to a control group.
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.
January 2007 in “日本看護学会抄録集 成人看護1” This study found that specific residues in human steroid 5alpha-reductase types 1 and 2 influence substrate binding and resistance to the inhibitor Finasteride, with certain substitutions significantly affecting these interactions.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
18 citations
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October 2009 in “Endocrinology” This study demonstrated that both HR isoforms are expressed in keratinocytes, but HRDelta1072-1126 lacks corepressor activity and may act as a coactivator by inhibiting HDAC recruitment to the VDR transcriptional complex.
December 2025 in “International Journal of Dermatology” This case report describes a unique instance of late-onset Björnstad syndrome in an 18-year-old female, mimicking androgenetic alopecia, and indicates potential improvement with JAK inhibitor baricitinib, highlighting the need for considering this syndrome in similar cases of patterned hair loss in young individuals.
70 citations
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August 2006 in “Cancer Research” This study found that inhibiting AP-1 activity in mice modified tumor development, leading to transdifferentiation between squamous and sebaceous tumors, with molecular analysis suggesting AP-1's role in maintaining tumor cell identity.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
7 citations
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December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
April 2016 in “Journal of Investigative Dermatology” This study identified mefloquine as a potent inducer of lethal ER stress that effectively eliminated vemurafenib-resistant and sensitive melanoma cells, suggesting its potential for repurposing as a melanoma treatment.
7 citations
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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.
2 citations
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May 2016 in “Journal of Clinical Oncology” This study found that topical BPM31543 was safe, tolerable, and showed potential to reduce chemotherapy-induced alopecia at higher dosing levels among adult women with cancer receiving taxane-based chemotherapy.
3 citations
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October 2019 in “EMBO molecular medicine” This study reports that the nuclear receptor co-repressor 1 (NCoR1) inhibits cardiac hypertrophy by stabilizing the MEF2 and class II HDACs complex, potentially offering a target for new therapies.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that topical treatment with 7DHC and BM15766 reduced hair growth in mice compared to those treated with Ethanol/DMSO, and hair did not recover after treatment ceased, alongside increased apoptotic cells and decreased expression of specific genes.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
1 citations
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August 2020 This study found that Croton membranaceus root extract induced CYP1A2 and GSTM1 enzymes but inhibited CYP3A4 and CYP2D6 in rat livers, suggesting caution in its use with other drugs.
April 2025 in “Frontiers in Pharmacology” This study found that targeting RARβ and RXRA with CANA, in combination with MPA, could help overcome progestin resistance by restoring BAX levels and downregulating CRABP2, suggesting a novel strategy for improving clinical efficacy in this context.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
191 citations
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December 2003 in “Journal of Investigative Dermatology” Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.
28 citations
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August 2019 in “BMC Genetics” This study identified a target relationship between miR-148a, miR-10a, and BMP7, suggesting these microRNAs influence dermal papilla cell proliferation and may regulate hair follicle growth.
September 2025 in “Development” In this study, deleting the transcriptional pause factor Nelfb in mouse preadipocyte lineages led to defective dermal fat formation and lethal outcomes, while interventions targeting Pparg could rescue adipocyte differentiation and promote dermal white adipose tissue formation, underscoring Nelfb's critical role in adipogenesis.