49 citations
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August 1999 in “Journal of Investigative Dermatology” In this study, transgenic mice expressing Msx-2 developed flaky skin with hyperproliferation and misalignment in epidermal cells, suggesting Msx-2 plays a role in skin and appendage growth control.
18 citations
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June 2018 in “Journal of Dental Research” This study found that during amelogenesis in Msx2 null mice, a dysfunctional enamel organ developed due to abnormal epithelial transformation and lacked proper enamel formation.
63 citations
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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.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
3 citations
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March 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review explores the advantages and limitations of using zebrafish models to study various skin diseases, but reports no new experimental results.
1 citations
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April 2023 in “International journal of molecular sciences” In this study, AMACO was found to be non-essential for the formation or function of anchoring cords in mice, despite its presence in the structure.
March 2026 in “The Open Dentistry Journal” This study found significant gender-based differences in forehead dimensions among 297 participants, with males showing larger vertical measurements, which could inform applications in forensic identification, cosmetic surgery, and anthropological research.
November 2025 in “Journal of Clinical Medicine” This narrative review highlights innovations in regenerative medicine and longevity research within plastic surgery, emphasizing biological, ethical, and regulatory aspects. The study underscores the potential to extend healthspans while balancing these advances with ethical considerations and safety.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
4 citations
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January 2023 in “Journal of Clinical Investigation” This study identified a recurrent mutation in the endothelin receptor type A associated with mandibulofacial dysostosis with alopecia, and proposed a mechanism involving increased ligand affinity due to structural changes.
3 citations
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June 2020 in “Frontiers in Immunology” This mouse study found that offspring of parents with uveitis showed increased susceptibility to experimental autoimmune uveitis, potentially due to altered immune and cellular processes.
82 citations
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May 2020 in “International Journal of Molecular Sciences” This narrative review discusses the role of injectable biomaterials in dental tissue regeneration, highlighting their suitability for treating small, hard-to-access oral defects compared to pre-formed scaffolds, and explores the potential use of nanofibers in dental applications.
23 citations
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April 2025 in “Journal of Clinical Medicine” This study explored the role of AI technologies in plastic and reconstructive surgery, highlighting their potential across preoperative, intraoperative, and postoperative stages, while also identifying challenges like data privacy and regulatory issues that must be addressed for successful implementation.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
18 citations
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August 2024 in “eLife” This study investigated immune dysregulation in individuals with Down syndrome and found that treatment with the JAK inhibitor tofacitinib improved skin conditions like alopecia areata and reduced autoimmune markers without severe side effects. Additional research is necessary to understand its broader impacts.
4 citations
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August 2023 in “Journal of Investigative Dermatology” Certain genes influence the direction of hair whorls on the scalp.
4 citations
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December 2022 in “International Journal of Molecular Sciences” This review discusses the role of zinc and its transporters in skin health and disorders, providing an overview without presenting new clinical results.
2 citations
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December 2024 in “eLife” This study observed that individuals with Down syndrome exhibit early immune dysregulation, including multi-organ autoimmunity and hypercytokinemia, and found that the JAK inhibitor tofacitinib showed a good safety profile and reduced skin pathology in a Phase II trial.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
1 citations
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July 2025 in “The Open Dermatology Journal” This study explores the transformative role of tissue engineering in cosmetics, highlighting innovations like lab-grown skin and personalized grafts that enhance product efficacy, offer ethical alternatives to animal testing, and address aesthetic issues such as scarring and aging.
December 2025 in “Current Issues in Molecular Biology” In this systematic review, animal studies showed that cytarabine causes multi-organ toxicities, notably neurotoxicity, linked to oxidative stress and other mechanisms, though study quality raises concerns about reliability and translation to human outcomes.
October 2025 in “Preprints.org” This research concludes that adipose mesenchymal stem cells are uniquely evolved to manage skin inflammation in newborns and their released molecules are the safest and most effective for skin therapeutics.
July 2023 in “F1000Research” This study conducted in Guangdong, China, observed that aesthetic plastic surgeons from private and government hospitals have similar demographics, with most transitioning from other specialties and expressing a strong interest in continuing training, especially in rhinoplasty, eye surgery, and new technologies.
1 citations
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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.
25 citations
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June 2022 in “Developmental cell” In this study, Hedgehog signaling in dermal papilla fibroblasts was found to accelerate hair growth and induce follicle multiplication in mice via the SCUBE3/TGF-β pathway, with some effects observed in human scalp hair follicles.
March 2026 in “Frontiers in Cell and Developmental Biology” This review reports that transcriptional and epigenetic mechanisms in epithelial stem cells guide their fate in the epidermis and hair follicles, crucial for skin homeostasis, but disruptions can lead to disease.
314 citations
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April 2010 in “Developmental Cell” This study found that in mice, inactivating beta-catenin in the dermal papilla reduces hair follicle progenitor proliferation and disrupts the hair cycle.
160 citations
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January 2017 in “Development” This study found that hypertrophic chondrocytes at the fracture callus border may convert to osteoblasts, influenced by vasculature and pluripotency gene expression.