32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
8 citations
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July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
January 2019 in “Publisher” This study found that human basal cell and squamous cell carcinomas have distinct gene expression patterns, with specific up-regulation of zinc finger encoding genes in basal cell carcinoma.
3 citations
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April 2019 in “Stem cells international” This study found that CRABP1, Nestin, and Ephrin B2 are expressed in both the tumor stroma and invasive front of skin adnexal tumors and basal cell carcinomas.
November 2018 in “Chin J Clin Lab Mgt (Electronic Edition)” This paper introduces Concentration Growth Factor (CGF) as a potential treatment for androgenetic alopecia, but reports no clinical findings on its effectiveness in promoting hair growth.
1 citations
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October 2022 in “Molecular therapy” This study found that betibeglogene autotemcel significantly improved transfusion independence in 89% of patients with transfusion-dependent beta-thalassemia, although the high cost and manufacturing challenges may limit widespread adoption.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.
9 citations
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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.
August 2025 in “Journal of Pediatric Endocrinology and Metabolism” This case report from a German study detailed a 2-year-old girl with virilization and precocious puberty due to a rare ovarian steroid cell tumor, finding that post-surgery, her elevated hormone levels normalized within a week, and ongoing follow-up showed no need for chemotherapy.
22 citations
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August 1999 in “Mechanisms of Development” This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.
29 citations
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July 2014 in “PLoS ONE” This study suggests that inactivation of β-catenin is necessary for chick retina regeneration, as it allows cells to enter the cell cycle during injury and promotes regeneration without needing FGF2.
15 citations
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March 2007 in “BioTechniques” This study introduced a new in vivo angiogenesis assay using Gelfoam implanted in ND-GFP transgenic mice to efficiently identify angiogenesis stimulators and inhibitors through GFP visualization.
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.
29 citations
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June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
January 2026 in “Frontiers in Oncology” This case report highlights that in postmenopausal women with severe hyperandrogenism, thorough adrenal and pelvic evaluations, hormonal profiling, and permanent pathology are essential for accurate diagnosis and management of androgen-secreting tumors, such as AGCTs, to prevent misdiagnosis and ensure effective treatment.
4 citations
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July 2025 in “International Journal of Molecular Sciences” This review discusses Amphiregulin (AREG) as a potential target for treating fibrotic disorders and cancer, highlighting its role in disease progression and promising results in preclinical studies and early trials.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
13 citations
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July 1996 in “Annals of Internal Medicine” This article reports the first case of group B streptococcal meningitis in an HIV-positive patient who had previously undergone a splenectomy.
January 2026 in “Biochemical Pharmacology” 44 citations
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October 2016 in “Epilepsia” This study demonstrated that the glycolytic inhibitor 2-deoxy-D-glucose enhances antiseizure effects by potentiating extrasynaptic tonic GABAergic inhibition through neurosteroidogenesis in hippocampal slices.
February 2026 in “ACS Applied Materials & Interfaces” This study developed a novel treatment method using carbon dots from Cinnamomum burmannii leaves, which improved hair regeneration and thickness in an AGA mouse model by promoting cell proliferation, angiogenesis, and reducing inflammation through multiple signaling pathways.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.
1 citations
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January 2016 in “Asian-Australasian journal of animal sciences” In this study, the expression of Gnαs was significantly higher in black mice compared to white mice, suggesting its potential involvement in coat color formation in mice.
15 citations
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February 2021 in “Cells” This study concluded that using human umbilical cord blood mononuclear cells transfected with VEGF and FGF2 genes enhances skin wound healing in rats, demonstrating greater wound revascularization compared to controls.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
31 citations
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June 1997 in “International Journal of Dermatology” In this case report, a patient with Hodgkin's disease treated with ABVD chemotherapy became disease-free, and accompanying granuloma annulare skin lesions also improved.