3 citations
,
September 2024 in “International Journal of Molecular Sciences” This review examines how mathematical modeling of the MAPK pathway, enhanced by single-cell proteomic data, improves understanding of regulatory mechanisms, predicts system behavior, and guides experimental research, emphasizing recent developments in modeling and inference.
1 citations
,
December 2020 in “International journal of molecular sciences” This study suggests that biallelic loss of the Hedgehog signaling repressor Patched alone in Keratin 5+ epidermal cells is insufficient to drive basal cell carcinoma development unless exogenous stimuli trigger accumulation of BCC precursor cells.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
44 citations
,
February 2021 in “Scientific Reports” This study found that specific mutations in the spike protein of SARS-CoV-2 may significantly alter its structure and affect how it binds to certain inhibitors, but experimental studies are needed to confirm potential clinical implications.
8 citations
,
June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
April 2019 in “Journal of Investigative Dermatology” This study reported that gain-of-function mutations in TRPV3 lead to hair loss in mice by disrupting inner root sheath keratinocyte differentiation, ultimately causing follicular keratinocyte stem cell exhaustion and permanent follicle disruption.
8 citations
,
May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
April 2019 in “Journal of Investigative Dermatology” In this study, engineered mice with a mutation similar to that in Olmsted syndrome showed progressive hair loss due to impaired inner root sheath keratinocyte differentiation and stem cell exhaustion.
5 citations
,
August 2019 in “iScience” In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.
October 2025 in “HAL (Le Centre pour la Communication Scientifique Directe)” This research observed that, in domestic cats like Maine Coon and Rex breeds, a "piebald" coat color pattern is likely influenced by the Silver locus, although the specific mutations involved are yet to be published.
5 citations
,
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.
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.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.
2 citations
,
July 2017 in “Oncology Letters” This study found that ablating cyclin D3 in a Ras-dependent skin carcinogenesis model increased apoptosis in hair follicles, reducing papilloma development but potentially facilitating malignant progression when CDK6 is overexpressed.
August 2026 in “BMC Nephrology” In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.
In this study, researchers discovered that the HrasG12V oncogenic mutation in murine skin epithelial cells initially promotes progenitor cell renewal but later leads to a balanced differentiation, stabilizing clone growth.
21 citations
,
February 2013 in “Clinics in Dermatology” This review discusses recent developments in targeted melanoma therapies, including BRAF/MEK/ERK pathway inhibitors and challenges like resistance and skin toxicities, but reports no new clinical results.
232 citations
,
January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
86 citations
,
October 2005 in “Experimental Dermatology” This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.
43 citations
,
December 2013 in “Seminars in Cell & Developmental Biology” This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
1 citations
,
January 2022 in “Research Square (Research Square)” This study found that CRISPR/Cas9 efficiently edited two cellulose synthase-like genes in spinach, significantly altering root hair growth patterns and suggesting potential for large-scale genome editing in this crop.
11 citations
,
May 2023 in “Journal of Cancer Research and Clinical Oncology” This review discusses various applications of CRISPR-based tools in cancer research, emphasizing their potential for investigating microRNA functions and developing microRNA-based therapies, despite challenges like off-target effects and delivery issues in using CRISPR/Cas9.
2 citations
,
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.
295 citations
,
September 2006 in “Cell Cycle” This review discusses the role of the TOR pathway in aging and suggests that rapamycin could potentially target age-related diseases, but reports no new clinical results.
234 citations
,
September 2004 in “Clinical cancer research” In this Phase II study, BAY 43–9006, taken orally for renal cell carcinoma, stabilized disease in 30% of patients, with 40% responding positively, although the targets remain unclear.
65 citations
,
February 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” This paper discusses the hypothesis that anti-acne agents may work by reducing FGFR2 signaling, and emphasizes FGFR2's potential role in acne pathogenesis, but it reports no new experimental findings.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
57 citations
,
July 2005 in “Genetics” In this study on Drosophila wings, researchers identified 435 genes with significant expression changes during wing hair morphogenesis, and found new phenotypes for 9 genes through functional validation.
42 citations
,
November 2002 in “The American journal of pathology” This study observed that nuclear β-catenin expression in non-small-cell lung carcinomas correlates with increased proliferation and loss of key cell-cycle checkpoints, suggesting an oncogenic advantage.