60 citations
,
September 2023 in “Science” This study found that the restoration of CD103⁺γδ T cells in humans is associated with sustained remission in inflammatory bowel disease, suggesting a conserved role for these cells in limiting disease progression.
19 citations
,
January 2015 in “Development” This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.
1 citations
,
March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
23 citations
,
March 2017 in “JAAD case reports” This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
8 citations
,
March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
11 citations
,
November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
7 citations
,
September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
1 citations
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May 2011 in “Molecular Medicine Reports” This study found no association between the -866G/A polymorphism in the UCP2 gene and the development of polycystic ovary syndrome.
September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
This study found that DNA methylation may regulate the differential expression of the BMP7 gene in Hu sheep lamb skin of different patterns, and it influences the proliferation and cell cycle of dermal papilla cells, with demethylation treatment increasing BMP7 expression and cell proliferation.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
20 citations
,
July 2011 in “PLoS ONE” This study found that HPV-150 and HPV-151 are rare genotypes with a preference for skin tissue, detected in some cases of skin lesions with generally low viral loads.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
9 citations
,
February 2018 in “The Journal of Dermatology” This study identified a novel splice site mutation in the LIPH gene associated with autosomal recessive woolly hair, contributing to understanding the genetic basis of this condition.
April 2023 in “Journal of Investigative Dermatology” This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.
18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
14 citations
,
March 2015 in “Stem Cell Research & Therapy” This study indicates that ABCG2 expression identifies interfollicular keratinocyte progenitor cells in human epidermis and suggests it could help enrich these stem cells for research and treatment.
56 citations
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April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
May 2024 in “JAMA Dermatology” In this study, researchers identified genetic factors associated with frontal fibrosing alopecia, noting a protective effect of a specific CYP1B1 gene variant, which may offer insights into the disease's pathogenesis and future risk mitigation strategies.
283 citations
,
February 2011 in “Cell stem cell” COL17A1 is crucial for preventing hair graying and loss by supporting hair and pigment stem cells.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
31 citations
,
July 2012 in “Journal of Lipid Research” This study found that the acyl-CoA binding protein is essential for the production of very long chain free fatty acids in the stratum corneum and maintaining normal epidermal barrier function in mice.
43 citations
,
January 2016 in “Development” This study identified a critical NF-κB-LHX2-TGFβ2 signaling pathway essential for primary hair follicle development in mice, revealing new insights into the underlying mechanisms of morphogenesis.
37 citations
,
November 2007 in “Journal of Biological Chemistry” This study found that increased intracellular expression of thymosin β4 is necessary and sufficient to induce PAI-1 gene expression in endothelial cells, potentially mediated through Ku80 as a novel receptor.
1 citations
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July 2024 in “International Journal of Molecular Sciences” In this study, miR-181a was found to inhibit the proliferation and induction abilities of ovine dermal papilla cells by targeting the GNAI2 gene and affecting the Wnt/β-Catenin signaling pathway, highlighting its role in the regulation of hair follicle growth and development.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This research suggests that hair keratins evolved from claw keratins in a hairless ancestor, with Hoxc13 controlling their expression in tetrapods, evidenced by the knockout of Hoxc13 hindering claw formation in Xenopus tropicalis frogs.
This study suggests that finasteride may upregulate BTG2 and CD244 gene expression through differential methylation, indicating potential as a treatment avenue for medulloblastoma.