May 2026 in “Scientific Reports” In this study, researchers overexpressed Lrig3 in mouse skin and observed hair loss linked to changes in skin protein profiles and signaling pathways, suggesting a potential role for Lrig3 in maintaining skin homeostasis.
April 2018 in “Journal of Investigative Dermatology” This study found that ERBB2 mutations and amplifications are likely key drivers of extramammary Paget disease, suggesting potential for targeted therapies and cancer immunotherapy due to the moderately high mutational load observed.
160 citations
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June 2008 in “American Journal Of Pathology” This review discusses the effects of the epidermal growth factor receptor system on skin biology and pathology, relying on animal models to analyze roles in cellular processes, wound healing, and tumorigenesis, but reports no new results.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” This manuscript describes two case reports of preterm newborns with a rare homozygous mutation in the epidermal growth factor receptor, leading to severe health issues and early mortality despite supportive care.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.
8 citations
,
November 2013 in “PLOS ONE” In this study, researchers found that a subset of mammary cells with active Wnt signaling in mice does not develop tumors upon ErbB2 activation and instead undergoes apoptosis, potentially protecting against carcinogenesis.
April 2016 in “Journal of Investigative Dermatology” The researchers reported that SOX4 expression is significantly upregulated in melanoma and its knockdown in cell lines resulted in reduced tumor progression, suggesting potential for targeted therapies.
87 citations
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March 2013 in “Expert Review of Anticancer Therapy” This article summarizes dermatologic adverse events in patients treated with afatinib in clinical trials and discusses strategies for managing these side effects, without providing new clinical results.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
44 citations
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September 2014 in “Cell Death & Differentiation” This review discusses the role of tumor suppressors in controlling tumor-associated inflammation and suggests that targeting this inflammation may counteract the effects of tumor suppressor loss.
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.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
19 citations
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April 2015 in “International Journal of Molecular Sciences” This study identified distinct gene expression patterns in wool follicle bulbs that may play important roles in wool follicle cycling and regeneration in sheep.
2 citations
,
June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
June 2025 in “Proceedings of the National Academy of Sciences” In this study, a mouse model with a PIK3CA gain-of-function mutation in Schwann cells revealed unique communication with neighboring cells and a glycolytic shift in peripheral nerves, and early alpelisib treatment significantly improved symptoms, though efficacy declined with delayed administration due to limited drug penetration.
19 citations
,
May 2016 in “Biology Direct” This study presents iSiMPRe, a method identifying protein regions enriched in mutations, revealing potential cancer-related genes and enhancing understanding of mutation effects across a wide range of cancer types.
14 citations
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May 2022 in “Cell Reports” In this study, researchers found that basal cell carcinomas with common Hedgehog signaling mutations may require additional mutations to hyperactivate downstream signaling and progress beyond dormancy.
April 2016 in “Journal of Investigative Dermatology” This study found that in mutant NRAS melanoma, MEK inhibitors led to increased AKT signaling and reduced MIG6, a change that may enhance cell migration and invasiveness.
22 citations
,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
39 citations
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September 2007 in “BMC developmental biology” This study found that Neuregulin3 can influence the development and differentiation of mammary glands and epidermal features in mice, potentially by inducing c-Myc and altering cell proliferation and adhesion.
March 2026 in “Dermatopathology” This study found that sebaceous gland-derived cutaneous adnexal carcinomas exhibited the highest frequency of genomic alterations compared to other tumor types.
94 citations
,
July 2003 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that continuous expression of epidermal growth factor in transgenic mice prevented hair follicles from entering the catagen phase, implicating EGF as a crucial regulator in hair cycle progression.
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.
September 2022 in “Scientific Reports” This study found that scalp melanoma often occurs in areas with androgenetic alopecia, and patients without alopecia might experience a later diagnosis due to hair coverage, leading to potentially worse outcomes.
This study found that chemically induced skin tumors in mice predominantly originated from Lgr6 + and/or Lrig1 + stem cells of the upper hair follicle rather than from other stem cell populations.
8 citations
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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.
13 citations
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October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
29 citations
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October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.