2 citations
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August 2020 in “Scientific reports” This study identified genes potentially involved in the development and differentiation of skin appendages in Atelerix albiventris, noting significant enrichment of immune-related genes in hair-type tissues.
January 2026 in “RSC Advances” Panax notoginseng may help with oral ulcers and hair growth.
January 2026 in “Archive ouverte UNIGE (University of Geneva)” This narrative review examined skin-sparing techniques in gynecomastia surgery and found satisfactory thoracic remodeling with acceptable morbidity and reduced scarring, but acknowledged methodological differences that limit decisive conclusions.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that hair-type tissues in hedgehogs show higher enrichment of immune-related genes compared to spine-type tissues, suggesting that spines evolved to protect against injuries and infections.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
November 2013 in “John Wiley & Sons, Ltd eBooks” The document concludes that accurate diagnosis of male and female gonadal disorders is crucial for effective treatment and better patient outcomes.
September 2025 in “Advanced Pharmaceutical Bulletin” This review highlights the promise of non-viral gene delivery systems, particularly genosomes, over traditional viral vectors due to enhanced safety and efficiency in therapeutic nucleic acid delivery for genetic diseases like cystic fibrosis and malignancies.
60 citations
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April 1998 in “Baillière s Clinical Endocrinology and Metabolism” This article reviews the genetic mutations causing male pseudohermaphroditism from 17 beta-HSD-3 and 5 alpha-RD-2 deficiencies and reports no new clinical findings.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
2 citations
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August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
November 2014 in “Elsevier eBooks” This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
14 citations
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November 2022 in “Development” This review discusses how transposable element activation may hinder tissue regeneration and explores mechanisms to control this activity, reporting no new experimental results.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
1 citations
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January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed a mouse model to mimic PHGDH gene copy number gain, finding that increased PHGDH expression leads to abnormal melanin production, which may offer insights into its role in melanoma.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” This study found that overexpression of the metabolic enzyme PHGDH can promote cancer initiation and progression, highlighting its significant role in tumor cell proliferation and tumorigenesis.
6 citations
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March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
In this study, researchers discovered that the HrasG12V oncogenic mutation in murine skin epithelial cells initially promotes progenitor cell renewal but later leads to a balanced differentiation, stabilizing clone growth.
35 citations
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April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
125 citations
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August 2003 in “Development” In this study, mice engineered to express human EGFR showed tissue-specific growth defects and neurodegeneration rescue, but developed severe heart issues and accelerated bone cell differentiation.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” This study identified a cytochrome P450 enzyme, CYP-pa1 from Pseudonocardia autotrophica, as responsible for the specific hydroxylation of cyclosporin A at the 9th N-methyl leucine, suggesting potential for biotechnological applications.