29 citations
,
January 2020 in “Frontiers in endocrinology” This paper considers fibrodysplasia ossificans progressiva as a segmental progeroid syndrome, which may help uncover mechanisms of normal aging and suggest targets for new treatments.
7 citations
,
September 2013 in “Familial cancer” This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.
January 2013 in “eScholarship (California Digital Library)” This study observed that activating Wnt signaling pathways increased the efficiency of reprogramming human fibroblasts into induced pluripotent stem cells compared to untreated cells.
8 citations
,
March 2015 in “International Journal of Oncology” This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.
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.
November 2011 in “Molecular Cancer Therapeutics” This study discusses the involvement of Hedgehog signaling in various human cancers, detailing different mechanisms of pathway activation and highlighting the potential for therapeutic targeting through pathway inhibition.
63 citations
,
May 2009 in “Dermato-endocrinology” This review explores the role of FGFR2b-signaling in the pathogenesis of acne, highlighting its influence on sebaceous gland physiology and the effects of anti-acne agents like isotretinoin.
17 citations
,
January 2023 in “Frontiers in Cell and Developmental Biology” This review discusses methods for generating induced pluripotent stem cells and highlights their recent applications in studying and treating COVID-19, but it reports no new experimental results.
This study found that GNAQQ209L expression in mouse melanocytes led to reduced survival in the interfollicular epidermis due to paracrine signaling, while GNAQQ209L boosted survival in a different microenvironment.
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.
November 2024 in “International Journal of Molecular Sciences” In this review, the authors discuss how hair may protect against scalp skin cancer by enabling IL-17-biased immunosurveillance, while hair loss could permit tumor development by reducing this immune protection.
October 2024 in “Preprints.org” This review by two dermatologists suggests that hair on the human scalp may protect against skin cancer not just physically, but by enabling IL-17 immune surveillance, with hair loss potentially leading to increased tumor growth due to reduced immunosurveillance.
September 2024 in “Preprints.org” In this review, the authors propose that hair on the scalp may protect against non-melanoma skin cancer by maintaining an IL-17 biased immunosurveillance, with hair loss potentially increasing the risk of skin cancer due to disrupted immune monitoring.
86 citations
,
February 2012 in “Journal of Clinical Investigation” This review discusses recent advances in understanding hair follicle stem cell dynamics and interactions, but it reports no new experimental findings.
50 citations
,
July 1996 in “Cell” This review discusses genetic and epigenetic mechanisms that may contribute to aging and presents models suggesting that chromosomal changes could play a key role in the aging process; it reports no new experimental findings.
41 citations
,
July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
39 citations
,
October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
9 citations
,
May 2002 in “PubMed” This study demonstrated that mice lacking skin-specific RXRalpha expression developed hair follicle degeneration and alopecia, indicating the importance of RXRalpha/VDR heterodimers in maintaining hair follicle homeostasis.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
2 citations
,
June 2023 in “PeerJ” This review discusses how chronic inflammation can lead to persistent stem cell activation and DNA damage, ultimately promoting cancer development and metastasis, but reports no new results.
1 citations
,
October 2025 in “International Journal of Molecular Sciences” This narrative review highlights the potential of naturally occurring compounds to target specific molecular pathways and overcome resistance in advanced and recurrent papillary thyroid cancer, offering new therapeutic possibilities beyond traditional treatments like surgery and lifelong hormone replacement.
March 2024 in “International journal of molecular sciences” In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
July 2023 in “Journal of Biomedical Science” In this review, the authors emphasize that phenotypic heterogeneity in genetic systems and human diseases is influenced by stochastic fluctuation and network topology, proposing that ultrasensitivity and threshold effects explain this variability, which may inform strategies for preventing and treating genetic diseases.
August 2022 in “IntechOpen eBooks” This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.
72 citations
,
November 2017 in “Journal of developmental biology” This review discusses the role of Hedgehog signaling in epidermal and hair follicle development and its involvement in basal cell carcinoma, without reporting new empirical findings.
17 citations
,
July 2024 in “Frontiers in Oncology” This review discusses recent advances in understanding Merkel cell carcinoma biology, including the development of genetically-engineered mouse models and potential therapeutic targets, but reports no new clinical results.
15 citations
,
July 2024 in “Current Issues in Molecular Biology” This narrative review explores the molecular mechanisms driving skin development and their role in skin diseases, emphasizing how disruptions in these pathways can lead to conditions like congenital disorders and cancers, potentially guiding new targeted therapies.
1 citations
,
April 2025 in “Clinical Cosmetic and Investigational Dermatology” This report describes a rare case of porokeratotic eccrine ostial and dermal duct nevus in a 64-year-old woman, successfully treated with CO₂ laser, highlighting its potential occurrence in older adults.
1 citations
,
May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
March 2026 in “Preprints.org” This study investigated the secretome of adipose mesenchymal stem cells and fibroblasts used in skin care products, finding 16 therapeutic pathways involving numerous signaling mechanisms, which may offer skin benefits through anti-inflammatory and regenerative effects.