13 citations
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July 2022 in “Frontiers in cell and developmental biology” This review discusses the potential of cell-derived nanovesicles as innovative treatment strategies for hair growth and provides no new clinical results; the authors emphasize the need for further understanding of their mechanisms.
9 citations
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August 2024 in “Tissue Engineering and Regenerative Medicine” In this study, researchers suggest that strategic early intervention during fetal wound healing could lead to significantly improved long-term skin regeneration outcomes.
8 citations
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May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations
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January 2025 in “medRxiv” In this case-control study, researchers did not find genome-wide significant genetic variants for trichotillomania, but cases had higher polygenic risk for psychiatric disorders and certain neuropsychiatric-associated copy number variants.
1 citations
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February 2023 in “Frontiers in Endocrinology” This study demonstrates that combining gene expression data with a random forest algorithm provides highly accurate diagnosis of childhood growth hormone deficiency, showing potential utility in distinguishing it from non-GHD short stature.
1 citations
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November 2016 in “Congenital Anomalies” This review examines the impact of biotin, vitamin B12, and zinc on male reproduction, emphasizing their role in spermatogenic failure, but reports no new clinical results.
January 2026 in “Journal of Biomedical Research” This review discusses the potential of small extracellular vesicles (sEVs) as next-generation therapeutics, noting their ability to overcome biological barriers and modulate cellular environments for various diseases.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
October 2025 in “Animal Bioscience” This review summarizes the application of genome wide association studies and selection signature analyses in sheep and goat breeding in China, highlighting genomic regions that influence traits like reproductive performance and body size.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.
April 2023 in “Medizinische Genetik” This review summarizes recent genetic findings in alopecia areata research and their implications for developing new treatments, without reporting new clinical results.
November 2022 in “Gigascience” This study identified a 582-bp deletion upstream of LHX2 in cashmere goats, likely linked to hair follicle development and cashmere production, providing insights into genetic factors in cashmere trait selection.
July 2022 in “International journal of KIU” This article outlines the scope, publication standards, and authorship responsibilities of the International Journal of KIU, but reports no new research results.
May 2020 in “Research Square (Research Square)” This study found that trichilemmal carcinoma shares genetic changes with other skin cancers, suggesting a similar pathogenesis, particularly in those with aggressive clinical courses linked to TP53 mutations.
April 2020 in “Research Square (Research Square)” This study reported genetic mutations in trichilemmal carcinoma similar to those found in other skin cancers, including TP53 mutations associated with aggressive disease.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
2 citations
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December 2019 in “Cureus” This report describes a case of secondary cutis verticis gyrata due to a cerebriform intradermal nevus, highlighting clinical management and screening guidelines.
January 2006 in “International water power & dam construction” This report details a rare case of late-onset, bilateral nevus comedonicus on the eyelids in a 79-year-old man, discussing its clinical presentation and histopathologic features without presenting new research findings.
5 citations
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May 2021 in “BMC surgery” This report of a rare case describes cutis verticis gyrate secondary to cerebriform intradermal nevus, emphasizing individualized treatment plans based on patient preference and condition severity.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study identified altered mRNA and lncRNA profiles in NS scalp tissues, highlighting CDKN2AIP as a downregulated gene involved in a ceRNA network.
44 citations
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January 1999 in “Dermatology” This article reviews different perspectives on nevus comedonicus, discussing its classification and potential associations with systemic findings, but it reports no new results.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.