11 citations
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February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” This study reports that treatment with X-rays or procarbazine induced dose-dependent mutations in melanocytes in mouse hair follicles, showing similar mutation rates to previous methods.
August 2024 in “Clinical & experimental pathology” This research highlights significant advancements in forensic DNA phenotyping, enabling predictions of physical traits, ancestry, and age from crime scene DNA, but notes that further research and validation are needed for greater accuracy and reliability.
43 citations
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December 2020 in “PLOS Genetics” This study used a new statistical approach, PLACO, to identify several novel shared genetic regions associated with both Type 2 Diabetes and Prostate Cancer in two large GWAS datasets.
2 citations
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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.
478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” This study found that overexpression of PTHrP in mice chondrocytes led to short-limbed dwarfism and delays in endochondral ossification, highlighting PTHrP's role in inhibiting chondrocyte differentiation.
January 2020 in “ScholarWorks (Central Washington University)” This study suggests that NAG-1 overexpression may prevent some metabolic dysfunctions linked to polycystic ovary syndrome in a mouse model.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
5 citations
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May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
January 2015 in “Journal of Neuromuscular Diseases” This case report describes two boys with Danon disease, initially misdiagnosed due to increased transaminases, who exhibited cardiac issues and muscle pseudohypertrophy.
October 2024 in “Frontiers in Pharmacology” This study found that in patients with genetic generalized epilepsies, certain gene variants were linked to differences in valproic acid treatment outcomes, including a higher likelihood of treatment failure, varying serum drug concentrations, and specific side effects like weight gain and hair loss.
53 citations
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January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
11 citations
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
15 citations
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February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
11 citations
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April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
28 citations
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August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
January 2005 in “Enlighten: Publications (The University of Glasgow)” In this transgenic mouse study, preliminary findings suggest that overt melanocyte hyperplasia may require prior keratinocyte hyperplasia, indicating a potential role for keratinocyte mutation in early melanoma development.
14 citations
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November 2022 in “Development” This review discusses how transposable element activation may hinder tissue regeneration and explores mechanisms to control this activity, reporting no new experimental results.
11 citations
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February 2019 in “Research and reports in forensic medical science” This article discusses the use of forensic DNA phenotyping to infer physical characteristics from biological samples without a reference sample, aiding investigations but raising ethical and legal concerns.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
This research identified genetic sequences that evolved at different rates in hairless versus hairy mammals, suggesting specific genetic changes contributed to the convergent evolution of hairlessness across various mammalian species.
March 2026 in “Animal Models and Experimental Medicine” In a dermal Gorab knockout mouse model, this study found that Gorab mutations increase P53 protein accumulation and disrupt extracellular matrix expression, contributing to accelerated skin aging and suggesting a pathway involving epigenetic regulation.
May 2023 in “Elsevier eBooks” This source outlines current research exploring CRISPR-Cas9, siRNA, miRNA, and tissue engineering as potential treatments for androgenetic alopecia, noting the need for further safety and efficacy studies before human application.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
2 citations
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December 2020 in “Developmental cell” In this study, DNA cross-linking agents used in cancer therapy were found to cause unintended hyperplasia and fate mis-specification in normal epithelial stem cells through inflammasome activation in dermal fibroblasts.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.
July 2026 in “Pediatric Allergy and Immunology” 78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study reports that the same androgen receptor gene mutation within a family can lead to both complete and partial androgen insensitivity syndromes, suggesting that genetic defects alone may not predict clinical phenotype.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.