This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
3 citations
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November 2022 in “European Journal of Human Genetics” This study developed new genetic prediction models for male pattern baldness with improved accuracy by utilizing a large set of markers and independent datasets, making them the most reliable available for this trait.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
50 citations
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February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
March 2026 in “Bioengineering & Translational Medicine” This study reported that a modified version of Thymosin beta 4, called PEG-rTβ4, demonstrated potential as a treatment for acute myocardial infarction by improving cardiac function and reducing cell death via specific biochemical pathways, suggesting its promise in drug development efforts.
1 citations
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July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
2 citations
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July 2011 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
2 citations
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May 2023 in “International Journal of Molecular Sciences” This study developed a two-step diagnostic model using transcriptome biomarkers from hair follicles to improve the accuracy of methamphetamine use disorder diagnosis, achieving high prediction accuracy in distinguishing non-recovered and almost-recovered patients from healthy controls.
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that specific inhibition of the classical complement pathway with BIVV009 prevented C3 deposition along the dermal-epidermal junction in bullous pemphigoid, reflecting its potential efficacy.
January 2026 in “Animals” This study researched the dun coat color in Mongolian horses, finding that variations in TBX3 expression in different skin areas are linked to Bider markings, suggesting TBX3's role in this specific pigment pattern, while further investigation is needed on its regulation.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
April 2025 in “European Journal of Pharmaceutics and Biopharmaceutics” This study developed and tested Bicalutamide-loaded lipid vesicles in dissolving microarray patches for topical application, finding that they effectively deliver Bicalutamide through murine skin while maintaining a favorable safety profile, suggesting potential to improve treatments for androgenetic alopecia.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
December 2021 in “Figshare” This study found that BBS7 expression is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, suggesting its downregulation in occlusal hypofunction affects cell migration and angiogenesis.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” This study on Sdr16c5/Sdr16c6-null mice found that inactivating these genes significantly increased Meibomian gland secretions and altered lipid profiles but had a subtle impact on sebogenesis, suggesting the genes control a bifurcation point in meibogenesis pathways.
38 citations
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September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
This case report describes a six-year-old child with congenital biotinidase deficiency whose symptoms, including breathlessness, alopecia, and hearing loss, were reversed with biotin supplementation.
10 citations
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September 1997 in “Molecular carcinogenesis” This study found that mirex and TPA promote papilloma formation in CD-1 mouse skin through distinct populations of mutant Ha-ras cells, resulting in additive tumor yields.
74 citations
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January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
4 citations
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May 2023 in “Pigment Cell & Melanoma Research” In this study, researchers found that deleting the Bmi1 gene in murine melanocytes caused premature hair greying and loss of melanocyte lineage cells, highlighting BMI1's role in protecting melanocyte stem cells from stress and oxidative damage.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.