1 citations
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January 2013 This study observed that inducible deletion of the Ugcg gene in mouse epidermis led to a significant reduction in GlcCers and epidermal POS-Cers, causing impaired skin barrier function and delayed wound healing.
July 2024 in “Journal of Investigative Dermatology” In this animal study, researchers found that the simultaneous deletion of ERBB2 and ERBB3 in mice results in impaired skin differentiation, inflammation, and sebaceous gland alteration, leading to skin lesions, while highlighting potential side effects in cancer therapies targeting these receptors.
6 citations
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January 2020 in “International journal of biological sciences” In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.
6 citations
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October 2023 in “Animal Biotechnology” This study found that a 22-bp InDel polymorphism in the FGF7 gene was significantly associated with growth traits in goats, with genotypes ID and/or II linked to better growth compared to genotype DD, indicating its potential as a molecular marker in breeding programs.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
5 citations
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October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
July 2007 in “Cancer biology & therapy” In this study, researchers found that deleting the ATR gene in adult mice led to signs of premature aging and reduced capacity for tissue renewal.
7 citations
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February 2019 in “Veterinary medicine and science” This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.
5 citations
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January 2022 in “PloS one” This study found that lineage-restricted loss of p63 in murine thymic epithelial cells resulted in severe thymic hypoplasia and absence of hair follicles, indicating p63's critical role in thymic and hair follicle development.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the absence of Hif-p4h-2 in specific mouse skin cells disrupted hair follicle development, leading to hair loss due to irregular keratin formation and pathway signaling.
11 citations
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December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
6 citations
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February 2022 in “The journal of neuroscience/The Journal of neuroscience” This study observed that deleting PTEN in mouse facial motoneurons enhanced peripheral axon regeneration but also led to physiological changes and potential hyperplasia in older mice.
23 citations
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June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
1 citations
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March 2022 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that HIF-P4H-2 function in FoxD1-lineage cells is crucial for normal hair follicle development and homeostasis in mice, implicating disrupted HIF, TGF-β, and Notch signaling pathways in associated defects.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
April 2017 in “Journal of Investigative Dermatology” This study demonstrated that mitochondrial function in keratinocytes is crucial for maintaining skin homeostasis and hair follicle development, as its impairment led to disrupted hair morphogenesis and early death in mice.
44 citations
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September 2019 in “The EMBO Journal” This study found that lymphatic vessels in mice are important for hair follicle development and organization, as their depletion blocks hair growth.
39 citations
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December 1998 in “Journal of Cell Science” This study found that the LEF-1 binding site acts as an enhancer element for the wool keratin intermediate filament gene promoter in hair follicle cortex, with specificity regulated by additional factors.
28 citations
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November 2019 in “Gene” This article reviews the structure and regulation of the ITGB6 gene and discusses its role in integrin αvβ6 expression, with no new experimental results reported.
1 citations
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April 2023 in “Animals” This study utilized EDAR gene-targeted cashmere goats to identify 732 differentially expressed genes and 140 proteins associated with abnormal hair growth, providing insights into the regulatory mechanisms of cashmere follicle development.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
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.
1 citations
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October 2017 in “Circulation” The researchers reported that introduction of SOX9 in ischemic heart tissues is linked to cardiac fibrosis, marking it as a potential target for future therapeutic strategies.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
58 citations
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July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
April 2012 in “Cancer Research” This study found that Stat3 influences the differentiation and migration of keratinocytes, potentially impacting epithelial carcinogenesis, by examining Stat3 activation or deletion effects in mouse models.
218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that removing PPARγ specifically from mouse adipose tissue led to severe fat loss, insulin resistance, diabetes, and associated metabolic abnormalities.
May 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study suggests that decreased PPARgamma function may trigger the pathogenesis of lichen planopilaris, and PPARgamma-targeted therapy could be a potential treatment method.