20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
January 2026 in “The Eurasian Journal of Life Sciences” This review discusses recent advances in the development of electrospun pectin nanofibers for biomedical applications, highlighting strategies to improve their mechanical properties and biological functions and addressing challenges like material variability and regulatory issues.
December 2025 in “International Journal of Pharmacology” This review highlights that iPSC-derived artificial platelets offer a promising alternative to platelet-rich plasma for regenerative medicine, with standardized manufacturing and reproducible pharmacological properties, addressing variability issues associated with donor-derived platelets and showing therapeutic potential in preclinical models of osteoarthritis.
November 2021 in “Research Square (Research Square)” This study observed that MRI treatment increased expression of stemness-related genes and colony formation in umbilical cord-derived mesenchymal stem cells without affecting viability or apoptosis, suggesting enhanced quality for therapeutic use.
January 2020 in “Proyecto de investigación:” This study found a significant association between AGDAC measurements and the presence of PCOS, suggesting it could be an effective clinical tool in diagnosing the condition and its phenotypes, especially when combined with AMH.
16 citations
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February 2019 in “Gene” This study describes two methods for isolating hair follicle stem cells from newborn Yangtze River Delta White Goats, highlighting differences in cell viability and marker protein expression between the methods.
17 citations
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March 2021 in “Expert Opinion on Biological Therapy” This review analyzes the impact of different preparation methods for platelet-rich plasma, human follicles stem cells, and adipose-derived stem cells on hair regrowth and wound healing, but reports no new results; the authors emphasize convincing evidence of positive outcomes despite protocol variability.
November 2025 in “Journal of Pioneering Medical Science” This systematic review reported that probiotics, prebiotics, synbiotics, postbiotics, and dietary supplements may improve hair density and reduce dandruff severity in individuals with scalp disorders, potentially by modifying inflammation, oxidative stress, and microbiota composition; however, variability across studies limits the strength of these conclusions.
81 citations
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February 2016 in “Veterinary pathology” This review discusses the commonly observed pathological findings in progeroid mouse models and highlights the importance of understanding mouse strain backgrounds and progeria-related phenotypes for accurate pathology data interpretation.
8 citations
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December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
11 citations
,
June 2016 in “npj Regenerative Medicine” This symposium discussed why regenerative capacity varies among species and diminishes with age, exploring how these insights could inform regenerative medicine approaches, without presenting new experimental results.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
June 2023 in “Frontiers in Genetics” This study suggests that the curly hair phenotype in Mangalitza pigs may involve complex gene interactions related to calcium signaling and lipid metabolism, rather than changes in TRPM2 or CYP4F3 expression.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
8 citations
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May 2024 in “ACS Applied Materials & Interfaces” This study found that incorporating PCL-based nanoscaffolds into liver spheroids enhances their viability and liver-specific biofunctionality, suggesting these scaffolds improve the model's potential for preclinical drug screening by increasing sensitivity to acetaminophen toxicity compared to traditional methods.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
2 citations
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May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
15 citations
,
March 2022 in “Frontiers in Bioengineering and Biotechnology” This study found that fucoidan significantly inhibited lung cancer cell phenotypes while sparing normal cells and altered gene expression, suggesting its potential for lung cancer therapy.
2 citations
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May 2023 in “Plants” In this study, Allium hookeri extract increased viability and size of dermal papilla cell spheroids and reduced oxidative stress effects, potentially promoting hair growth by regulating specific protein signaling pathways in human cells.
22 citations
,
April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
6 citations
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November 2022 in “Forensic Science Medicine and Pathology” This study demonstrated that genetic markers can predict human ear morphology with moderate to good accuracy, potentially aiding forensic identification in crime scene investigations where traditional DNA matches are unavailable.
22 citations
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August 2021 in “Frontiers in medicine” This study found that monocytes/macrophages with a pro-inflammatory M1-like phenotype may play a crucial role in the pathogenesis of hidradenitis suppurativa, suggesting potential therapeutic targets.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
65 citations
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September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
44 citations
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November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
January 2026 in “Biology” This review discusses the complex genetic factors contributing to androgenetic alopecia, highlighting the variability in genetic risk across different populations and the emerging understanding of personalized treatment strategies, but reports no new clinical findings.
May 2025 in “Clinical Medicine Insights Case Reports” This case study reported on a 6-year-old boy with Kindler Syndrome born to consanguineous parents, featuring atypical symptoms like hyperpigmented macules and glucose intolerance, contributing to expanding insights into the condition's phenotypic diversity.