June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
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.
3 citations
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September 2022 in “Animal biotechnology” This study found that knocking down lncRNA MTC in Liaoning Cashmere goat skin fibroblasts inhibited cell proliferation and increased apoptosis, suggesting its role in facilitating cell growth by regulating specific proteins.
9 citations
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January 2023 in “International Journal of Biological Sciences” This study suggests that CTHRC1, a protein expressed in cardiac fibroblasts, may improve wound repair and prevent cardiac rupture after myocardial infarction by activating a specific signaling pathway.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
January 2016 in “Texas ScholarWorks (Texas Digital Library)” This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
6 citations
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October 2012 in “Journal of Heredity” This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
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.
59 citations
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November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
29 citations
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June 2015 in “Kidney International” This study developed a kidney-specific knockout mouse model lacking the Flcn gene, which recapitulates human Birt-Hogg-Dubé kidney tumorigenesis and shows that mTOR pathway inhibition with rapamycin can suppress tumor growth.
32 citations
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March 2018 in “Neoplasia” This study suggests that nephronectin (NPNT) could serve as a novel prognostic marker for poor prognosis in a subgroup of breast cancer patients, associated with specific NPNT staining patterns.
33 citations
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May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
August 2023 in “Frontiers in Endocrinology” This study identified novel mitochondrial DNA variations in PCOS patients from Pakistan, which may serve as genetic predisposition markers, highlighting especially the potential pathogenicity of frameshift mutations in the MT-ND2 gene.
9 citations
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January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
12 citations
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October 2006 This review discusses the role of matriptase and its inhibitor HAI-1 in epithelial homeostasis and cancer development, highlighting their imbalance's link to cancer progression without presenting new experimental results.
4 citations
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July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
21 citations
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June 2009 in “Mammalian genome” This study describes a mouse model for Marie Unna Hereditary Hypotrichosis, identifying mutations in the hairless gene that result in sparse or absent hair and cyst-like hair follicles.
In this thesis, researchers explored ways to enhance the management of myotonic dystrophy type 1 by investigating the genetic inheritance patterns, especially small-sized repeat expansions, and assessing cardiac care, energy expenditure, and body composition in affected individuals.
21 citations
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February 2006 in “Clinical Cancer Research” This commentary discusses how microphthalmic-associated transcription factor levels in circulating tumor cells correlate with melanoma progression and suggests the factor may be up-regulated in vivo, but it reports no new clinical results.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
11 citations
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May 2012 in “Genesis” This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.
April 2018 in “DSpace@MIT (Massachusetts Institute of Technology)” Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
286 citations
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April 2009 in “The journal of neuroscience/The Journal of neuroscience” This study found that TRPA1-deficient mice exhibited normal cold sensitivity but had decreased mechanical response in nociceptors, suggesting TRPA1's role in mechanotransduction.
3 citations
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January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.