16 citations
,
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.
9 citations
,
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.
May 2005 in “Molecular Carcinogenesis” This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
3 citations
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July 2021 in “Life science alliance” This study observed that disrupting the Pnkp gene in adult mice resulted in a premature aging-like phenotype, suggesting PNKP's vital role in maintaining normal growth and survival of certain progenitor cell populations.
17 citations
,
January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where neurogenic bladder dysfunction developed, attributed to demyelinating lesions in the patient's peripheral nerves, spinal cord, and cerebral white matter.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” This review discusses the clinical phenotypes of primary mitochondrial cytopathies linked to significant genetic defects in mitochondrial DNA, reporting no new clinical results; the authors emphasize the need for differential diagnosis.
January 2023 in “Skin appendage disorders” This article describes two cases of plica neuropathica, a rare hair condition involving severe matting, and discusses possible contributing factors and diagnosis methods while reporting no new scientific results.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
2 citations
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January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where serial urodynamic studies revealed neurogenic bladder dysfunction linked to demyelinating lesions in the patient.
March 2005 in “Journal of The American Academy of Dermatology” Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
13 citations
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November 2021 in “Frontiers in Molecular Biosciences” This review discusses the mechanisms of platinum-induced peripheral neuropathy related to reactive oxygen species and explores potential antioxidant therapies and nanotechnology approaches, but reports no new clinical results.
35 citations
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July 2022 in “Frontiers in Integrative Neuroscience” This review discusses the neuroprotective potential of formononetin, especially for neurological diseases, and reports no clinical results; the authors suggest its promise for developing central nervous system drugs.
February 2026 in “Advanced Science” This study found that the combination of TTNPB and CHIR99021 enhanced the derivation of highly advanced neural stem cells from human pluripotent stem cells, with improved chromatin accessibility and neuroectodermal gene expression, and these cells successfully engrafted in rat hippocampi to ameliorate depression-like symptoms.
12 citations
,
February 2010 in “Tetrahedron Letters” This article describes the synthesis of novel polyamine-modified minoxidil analogs and conjugates to potentially enhance minoxidil's biological activity, selectivity, and water solubility, but reports no new biological results.
1 citations
,
July 1991 in “PubMed” This case report describes a patient with adrenomyeloneuropathy, highlighting unusual MRI findings of high signal areas in the right striatum.
34 citations
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May 2001 in “Endocrinology” This study found that MRP3 is induced in wound edge keratinocytes during wound healing and may play a role as a growth or angiogenesis factor in this process and the hair follicle cycle.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
2 citations
,
June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
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.
April 2018 in “DSpace@MIT (Massachusetts Institute of Technology)” Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.
October 2022 in “Rheumatology (Bulgaria)” This case report details the challenging diagnostic journey of a 50-year-old woman with progressive supranuclear palsy, highlighting the disease's complex and variable clinical presentation.
15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
26 citations
,
December 2020 in “Nature metabolism” Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
December 2025 in “International Journal of Molecular Sciences” This study found that an aqueous extract of Bacopa procumbens improved motor function and preserved neuronal structure in a mouse model of Parkinson's disease, suggesting its neuroprotective potential.
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.
19 citations
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May 2001 in “Endocrinology” This study suggests that Mrp3 may play a role in both wound healing and the hair follicle cycle as a growth factor and/or angiogenesis factor.
10 citations
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May 2020 in “Advances in Polymer Technology” This study found that melatonin-loaded nanoparticles improved antidepressant effects and HPA axis regulation in pinealectomized rats, compared to free melatonin, through controlled-release properties.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In a mouse model study, researchers observed that the absence of MCPIP1 in myeloid cells decreased susceptibility to chemically induced skin papillomas but caused significant hair loss and skin pigmentation changes, suggesting a role for MCPIP1 in skin carcinogenesis and follicle integrity.