This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.
21 citations
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April 1982 in “Genetics Research” In this study, researchers observed that mice with the naked gene showed frequent absence of hair cuticle and cortical cells during follicle growth, with abnormal keratin deposition also noted.
This study observed that TBX3 mRNA expression levels were region-specific and correlated with pigmentation patterns in dun Mongolian horses, providing insights into the genetic mechanisms behind their distinctive Bider markings.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
January 1999 in “Birkhäuser Basel eBooks” This study observed increased metallothionein expression in regenerating liver and hyperplastic mouse skin, suggesting a potential role in cellular proliferation and differentiation.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
2 citations
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January 2001 in “Biomedical Research” This study found that peptidylarginine deiminase type III and trichohyalin are coincidentally expressed in the infant rat hair follicle, but trichohyalin deimination occurs after their expression during development.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that MPZL3 plays a crucial role in regulating the hair cycle clock in mice, with its absence leading to accelerated hair follicle cycling and suggesting potential therapeutic pathways for alopecia treatment.
57 citations
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January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
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.
January 2022 in “Mammalian Genome” This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.
16 citations
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January 2010 in “American Journal of Neuroradiology” This case report describes a 3-year-old boy with trichothiodystrophy, highlighting specific MRI findings of diffuse dysmyelination and osteosclerosis that may be unique to the disorder.
This study reports that a specific transporter protein in Staphylococcus hominis is responsible for transporting a malodour precursor, thereby playing a key role in human body odor production.
42 citations
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December 2016 in “Cell Death & Differentiation” This study found that transient mtDNA double strand breaks in mice accelerated aging in certain tissues through increased reactive oxygen species, independent of p21/p53 pathway mediation.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
53 citations
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October 2014 in “Free radical biology & medicine” This study found that oxidative damage is present in the mitochondria of PolG mice, which exhibit premature aging-like phenotypes due to mitochondrial dysfunction.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
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.
November 2023 in “Scientific Reports” In this study, researchers used NIH hairless mice to uncover genetic markers associated with hair loss and identified a Lama3 point mutation as a potential genetic contributor, creating a mutant mouse model that may advance the study of androgenetic alopecia.
26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
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.
2 citations
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March 2019 in “Journal of Histochemistry and Cytochemistry” This study found that NNAT is localized in both undifferentiated and differentiated cells across various rat tissues and has cell-specific intracellular localization, suggesting distinct functional roles.
15 citations
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October 1976 in “Biochemical Journal” This study found that Naked trait mice exhibit a decrease in certain low-molecular-weight proteins in their hair, which contain high levels of glycine and tyrosine, compared to normal mice.
23 citations
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November 2001 in “Archives of Dermatology” This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.
November 2025 in “Journal of Investigative Dermatology” BTNL2 helps protect hair follicles from immune attacks.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
2 citations
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March 2024 in “Pediatric Dermatology” This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.
7 citations
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July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.