94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
29 citations
,
February 2001 in “Proceedings of the National Academy of Sciences” This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.
This study in cashmere goats identified the lncRNA MRPS28, which interferes with secondary hair follicle morphogenesis by inhibiting dermal papilla formation through sponging chi-miR-145-5p, offering insights into breeding strategies for improved cashmere quality.
9 citations
,
May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
19 citations
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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.
54 citations
,
April 2019 in “Journal of cellular physiology” In this study, miR-218-5p was found to enhance hair shaft growth and positively regulate the Wnt signaling pathway by targeting SFRP2 during skin and hair follicle development.
September 2017 in “Journal of Investigative Dermatology” This study found that in AGA, the risk allele at locus 2q35 alters WNT10A expression through EBF1, suggesting a potential androgen-dependent regulatory mechanism.
4 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
53 citations
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August 2017 in “Journal of Investigative Dermatology”
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the IGF2 gene Apa1 A820G polymorphism is associated with an increased risk of developing PCOS in the studied population.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
November 2022 in “Journal of Investigative Dermatology” This study provides evidence that ILC1-like cells can induce alopecia areata in previously healthy human hair follicles, challenging the view that it is solely an autoantigen-dependent autoimmune disease.
February 2022 in “Research Square (Research Square)” This study found that high TSPEAR expression in colorectal cancer was associated with poor prognosis and correlated with various tumor and immune-related factors.
This study identified ISPP-Rb, a novel immuno-stimulatory complex from Royoporus badius, that significantly activates murine macrophage cells and induces multiple proinflammatory cytokines.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.
September 2016 in “Journal of Dermatological Science” This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.
5 citations
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May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
91 citations
,
December 2019 in “The EMBO Journal” This study found that the E3 ligases NEDD4 and NEDD4L regulate intestinal stem cell priming by degrading the LGR5 receptor, and their loss leads to increased Wnt activation and crypt proliferation, which in turn accelerates intestinal tumor progression in mice.
55 citations
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March 2014 in “EMBO Reports” Protein ubiquitylation is crucial for controlling stem cell functions and could be targeted for cancer treatment.
38 citations
,
December 2020 in “Cancers” This review discusses current clinical trials targeting Wnt signaling in gastrointestinal cancers and reports no new results; the authors highlight challenges and consider alternative strategies for cancer treatment.
26 citations
,
February 2021 in “FEBS Journal” This review discusses potential immune therapies targeting regulatory T cells for age-related diseases and emphasizes the need for further research to translate these therapies into clinical practice.
26 citations
,
January 2018 in “Skin appendage disorders” This review summarizes existing studies on toxic agents that can cause alopecia, with thallium and colchicine having the most established links, while others like botulinum toxin A need further investigation.
7 citations
,
May 2025 in “Journal of Biomedical Science” This study found that KRT6A expression increases after epidermal barrier disruption, worsening skin inflammation in disease conditions, and suggests that targeting KRT6A could offer a new treatment approach for inflammatory skin diseases linked to epidermal dysfunction.
6 citations
,
November 2024 in “Frontiers in Immunology” This review examines the role of autophagy, specifically macrophage, chaperone-mediated, and microphagy, in the progression of six skin diseases, including psoriasis and systemic lupus erythematosus, illustrating its significance in cellular homeostasis.
6 citations
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January 2021 in “Frontiers in Immunology” This study found that deficiency in TLR3/TRIF signaling reduced inflammation and protected mice against postoperative ileus, suggesting potential for TLR3 antagonism as a preventive approach in humans.
5 citations
,
April 2024 in “Journal of Ovarian Research” This study found that in mice with premature ovarian insufficiency, miR-21 enhances ovarian function recovery following umbilical cord-derived mesenchymal stem cell transplantation by influencing specific cellular signaling and immune pathways.
2 citations
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December 2024 in “Neural Regeneration Research” This research review highlights the potential of exosome therapy to transform stroke treatment, reporting that in animal models, exosomes can reduce neuroinflammation, oxidative stress, and cell death, while promoting brain repair and regeneration. However, more evidence is needed before clinical applications in humans are established.
1 citations
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June 2025 in “International Journal of Molecular Sciences” This review highlights that hirsutism in the GCC is influenced by genetic and lifestyle factors, cultural stigmas, and lacks adequate diagnostic tools, stressing the need for culturally tailored research and public health initiatives.
June 2026 in “JAAD reviews.” This review suggests that low-dose oral minoxidil may enhance hair density in certain nonandrogenetic alopecias, but highlights the need for controlled trials due to mixed and limited evidence.