December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, the authors observed that controlled microflora in gnotobionts leads to delayed maturation of T-dependent lymphocytes in the thymus, affecting cellular immunity reactions.
2 citations
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October 1999 in “Annals of the New York Academy of Sciences” This article discusses plasma β-endorphin concentrations during natural and artificially induced winter hair growth in mink but reports no new clinical findings.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
August 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This preclinical study found that a machine-learning-driven strategy for fabricating microneedles with optimal hardness and rapid dissolution significantly promoted hair regrowth in androgenetic alopecia mice by activating the Wnt/β-catenin pathway, surpassing the effects of minoxidil.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.
15 citations
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May 2009 in “Chemical Physics Letters” This study demonstrated that a metric based on rotational echo intensity in 2H magic-angle spinning NMR can derive kinetic information for conformational exchange without complex modelling, achieving activation barriers consistent with prior findings.
January 2025 in “Nanoscale” This study reports that a new boron/nitrogen-doped carbon nano-onion-based delivery system for doxorubicin enhanced its uptake and anticancer effects in specific cancer cell types, while reducing cardiotoxicity in human heart cells.
178 citations
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May 2006 in “Developmental Dynamics” This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.
7 citations
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May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
9 citations
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December 2023 in “Journal of Neuroimmune Pharmacology” This study found that systemic administration of NDP-MSH, a melanocortin receptor agonist, provided neuroprotective effects on dopaminergic nigrostriatal neurons in a mouse model of Parkinson's disease, reducing neuroinflammation and suggesting a role for regulatory T cells in these neuroprotective effects.
February 2026 in “Biophysical Journal”
59 citations
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April 2016 in “Cell Reports” This study demonstrated that EdnrB signaling promotes melanocyte stem cell proliferation and differentiation, enhancing hair and epidermal melanocyte regeneration, especially under conditions of active Wnt signaling.
13 citations
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November 2017 in “Neurotoxicity research/Neurotoxicity resarch” This study found that sodium metabisulfite activates sodium channels and increases cellular excitability and excitotoxicity in both cardiomyocyte and neuron models, which exacerbates seizures and neuronal damage in rats.
15 citations
,
November 2020 in “International Journal of Molecular Sciences” This study found that multi-walled carbon nanotubes promoted root hair growth in certain plants, with results indicating they modulate nitric oxide and ethylene pathways crucial to this development.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” This study found that early biochemical screening and molecular confirmation are crucial for distinguishing profound from partial biotinidase deficiency, which supports timely treatment and management in symptomatic children.
221 citations
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July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that the circadian clock in mouse skin regulates cell proliferation and affects sensitivity to UVB-induced DNA damage, with potential implications for understanding human skin cancer risk.
July 2026 in “Journal of the American Academy of Dermatology”
April 2016 in “Journal of Investigative Dermatology” This study found that trametinib and vemurafenib increased sebum production and gene expression related to lipid accumulation in hamster sebocytes, which may help explain certain side effects in patients.
36 citations
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March 2002 in “Journal of Biological Chemistry” Food deprivation increases MST enzyme in the brain, possibly affecting energy balance.
176 citations
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September 2006 in “Stem Cells” This study found that active BMP signaling prevents epithelial stem cell activation and expansion in hair follicles, while its inhibition leads to HF stem/progenitor cell overproduction and matricomas.
January 2024 in “Frontiers in Bioengineering and Biotechnology” In this mouse study, researchers found that nanoparticles loaded with umbilical cord-derived stem cell membranes and minoxidil enhanced hair growth by improving drug solubility and transdermal delivery, increasing VEGF, IGF-1, MKI67, and CTNNB protein levels in skin tissue compared to regular minoxidil.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
1 citations
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August 2025 in “Clinica Chimica Acta” January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
21 citations
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September 2003 in “Journal of Clinical Investigation” This paper reports that noggin inhibits BMP-2 and BMP-4 functions by binding and blocking their interaction with the BMP receptor, impacting multiple developmental processes without presenting new research results.
November 2023 in “Journal of plant nutrition and soil science” This study observed that maize plants, including a root hairless mutant variety, did not exhibit typical root growth or compensatory foraging behavior under severe boron deficiency in soil, indicating atypical responses compared to other plants.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
July 2025 in “ACS Pharmacology & Translational Science” In this study, maslinic acid applied topically was observed to stimulate hair growth in mice comparably to minoxidil, primarily activating pathways like Wnt/β-catenin, and suggesting a link between hair growth and cilia activity.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.