10 citations
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November 2009 in “Pigment cell & melanoma research” This study by Pérez-Oliva et al. explored how Mahogunin Ring Finger-1 (MGRN1) affects melanocortin-1 receptor (MC1R) signaling, suggesting that MGRN1 competitively inhibits Gαs binding to MC1R, influencing pigment production.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
4 citations
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February 2012 in “Chinese Science Bulletin” In this study, overexpression of the MtAnn3 gene in Medicago truncatula roots was associated with altered root hair growth polarity in a calcium-free environment.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
4 citations
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December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
4 citations
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October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
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.
51 citations
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December 2006 in “Mammalian Genome”
May 2025 in “The FASEB Journal” This study concluded that TNFRSF1B is a potential pathogenic factor in androgenetic alopecia, suggesting it as a novel therapeutic target.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
81 citations
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November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
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.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
August 2026 in “BMC Nephrology” In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.
9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
506 citations
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January 2012 in “Molecular and Cellular Endocrinology” This review details the expression and diverse functions of melatonin receptors in non-neural tissues and reports no new clinical findings, emphasizing their potential as therapeutic targets across various physiological and pathological processes.
247 citations
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August 2011 in “European Journal of Epidemiology” This article outlines the rationale, design, major findings, and updated objectives of the ongoing Rotterdam Study, without presenting new research data.
222 citations
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January 2005 in “Endocrine journal” This article discusses the potential role of melatonin in protecting skin against stress and maintaining homeostasis, based on its local synthesis and various protective functions, but presents no new clinical results.
219 citations
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September 2009 in “European journal of epidemiology” This article discusses the rationale, design, major findings, and updated objectives and methods of the ongoing Rotterdam Study on various diseases, without reporting new research results.
57 citations
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May 2014 in “Molecular Phylogenetics and Evolution” This study utilized a sequence-structure alignment approach to improve the characterization of Class A Rhodopsin GPCR superfamily, including orphan and unclassified receptors, through evolutionary analysis.
21 citations
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February 2016 in “Reproductive Biomedicine Online” This review examines how genetic variants associated with polycystic ovary syndrome affect reproductive success differently in men and women, supporting the theory that intralocus sexual conflict may explain its persistence.
5 citations
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January 2016 in “Genetics and molecular research” In this study, a specific SNP in the A2M gene of Murrah buffaloes was significantly associated with increased fat production and higher fat and protein percentages in milk.
June 2026 in “International Journal on Science and Technology” This source redefines anti-aging medicine as "precision healthspan pharmacology," suggesting that rather than just treating diseases or accepting aging, pharmacology should focus on expanding functional capacity across various health domains, while emphasizing the importance of fundamental physiological and psychosocial health factors.
This study investigated the mechanisms of Platycladi Cacumen in treating androgenetic alopecia, identifying potential key components and targets but found no specific targets or regulatory mechanisms.
January 2025 in “Asian Case Reports in Emergency Medicine” This paper reviews research on the link between small cell lung cancer and metabolic syndrome, highlighting that existing studies indicate metabolic syndrome may contribute to lung cancer development through mechanisms like insulin resistance, chronic inflammation, and oxidative stress.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.