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May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.
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September 2023 in “Genes” This study found no significant difference in CUX1 core promoter methylation levels between different lambskin patterns in Hu sheep, suggesting other mechanisms influence CUX1 expression related to hair follicle development.
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
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December 2016 This computational study developed a regulatory model linking key genes and miRNAs to cardiac senescence, validated by connecting 94% of these elements to existing cardiac aging research.
In this study, researchers performed a genome-wide characterization of the Wnt gene family in domestic donkeys, identifying 19 genes and highlighting their evolutionary conservation among mammals, along with tissue-specific expression patterns potentially linked to reproductive regulation and tissue homeostasis.
March 2026 in “Journal of Nanotheranostics” This review highlights how nanotechnology enhances CRISPR-Cas9's potential for cancer treatment by improving delivery and stability, addressing key challenges like immunogenicity and delivery inefficiencies, and discusses recent advancements in stimuli-responsive nanoplatforms for precise genome editing.
September 2025 in “OBM Genetics” This case report describes a 9-month-old male infant with Netherton syndrome, highlighting the importance of early diagnosis and treatment initiation for better management of symptoms and prevention of misdiagnosis.
February 2025 in “Intisari Sains Medis” This article explores the potential mechanisms by which polydeoxyribonucleotide (PDRN) could improve skin quality, slow aging, and enhance skin regeneration, but reports no new clinical findings.
This study found that expression and variants of the KRT84 gene are associated with important wool traits in Gansu Alpine Fine-wool sheep, suggesting its potential use as a genetic marker for wool trait selection.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
January 2023 in “Karger Kompass. Dermatologie” This review discusses the complexity of identifying hair follicle antigens involved in alopecia areata and reports no new clinical results, emphasizing the need for further research on autoantigen identity.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
June 2020 in “Journal of Investigative Dermatology” This study reports that extracellular microvesicles isolated from stimulated dermal fibroblasts enhanced hair follicle growth ex vivo and identified norrin as a novel modulator in hair regeneration processes.
This study identified significant differences in KIR gene profiles between SLE patients and controls, suggesting that specific KIR genes could serve as biomarkers for disease severity in Indian SLE patients.
May 2015 in “Journal of Investigative Dermatology” In this study, Wnt-3a was found to play an important role in partially maintaining and expanding epithelial skin stem cells in vitro, suggesting potential for in vitro stem cell culture without feeder cells.
January 2012 in “Elsevier eBooks” This chapter reviews therapies for skin and corneal regeneration and hair loss, discussing various treatments but presenting no new research findings.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
April 2026 in “Cellular and Molecular Immunology” In a conditional knockout mouse model, this study found that loss of the transcription elongation factor SPT6 in basal keratinocytes led to psoriasis-like skin inflammation and delayed wound healing, suggesting SPT6 plays a crucial role in maintaining epidermal immune quiescence by suppressing proinflammatory NF-κB signaling.
February 2025 in “Biomolecules” This study found that activation of RORA significantly promotes the level of autophagy in rat hair follicle stem cells, suggesting a potential target for research on hair follicle development and treatments for conditions like alopecia.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
February 2024 in “Frontiers in plant science” This study found that Plant Elicitor Peptides enhance root hair growth through a mechanism independent of their known receptors, with PROPEP2 playing a key role in this process by influencing gene expression related to root hair formation.
January 2023 in “Revista Paulista de Pediatria” This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, primary cilia were found to contribute to meibomian gland enlargement and lipid production, though they are not necessary for normal gland development.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
September 2019 in “Journal of Investigative Dermatology” This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
December 2016 in “Springer eBooks” This review examines the clinical features, causes, diagnosis, and treatment of Chrousos syndrome but reports no new experimental findings on this condition.