September 2013 in “Helda (University of Helsinki)” This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.
40 citations
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January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
1 citations
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January 2018 in “Stem cell biology and regenerative medicine” This review discusses the roles of DNA methylation in skin development and regeneration, highlighting its impact on embryonic skin lineage, homeostasis, and potential therapeutic targets, but reports no new clinical results.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” This study found that three genetic loci, including the newly identified JMJD1C, are associated with circulating testosterone and dihydrotestosterone levels, explaining a small portion of their variance in European men.
29 citations
,
January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
60 citations
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March 2006 in “Journal of Medical Genetics” This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.
36 citations
,
September 2015 in “Forensic Science International: Genetics” This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.
89 citations
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April 2023 in “Forensic Science International Genetics” This review summarizes advancements in forensic DNA phenotyping for appearance, ancestry, and age prediction from crime scene samples, reporting no new research findings but highlighting areas needing further research and validation.
8 citations
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October 2020 in “Stem cell research & therapy” This study found that DNMT1 promotes adipogenesis in hair follicle stem cells by regulating the miR-214-3p/MAPK1/p-ERK1/2 pathway, suggesting potential applications in stem cell therapy.
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.
March 2026 in “Journal of Investigative Dermatology” March 2025 in “Laboratory Investigation” This study examined the clinicopathologic features of mesothelioma of the tunica vaginalis testis in 14 patients, finding that the disease mostly presented as epithelioid type, with a propensity for high-grade tumors, and BAP1 and MTAP loss was uncommon.
26 citations
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April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
10 citations
,
June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
13 citations
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June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
This study identified a novel E413K mutation in the hHb6 gene in a Chinese Han family with monilethrix, potentially linked to the characteristic moniliform hair structure.
December 2022 in “Biochemical and Biophysical Research Communications” This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.
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.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.
5 citations
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June 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that applying topical thymidine dinucleotide (pTT) to newborn mice before UV exposure delayed and reduced melanoma development compared to untreated controls.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
153 citations
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June 2015 in “GenomeBiology.com” This study found that both genome-wide screening methods identified the VTRNA2-1 epiallele as highly responsive to environmental influences, suggesting a link between early embryonic environment, epigenetic changes, and human disease.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.
January 2023 in “Türkiye klinikleri adli tıp ve adli bilimler dergisi” This review discusses forensic DNA phenotyping, focusing on male pattern baldness and its prediction through SNP markers, but reports no new results.
51 citations
,
December 2006 in “Mammalian Genome”
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that early pigment cell markers Sox10 and c-KIT, as well as DCT/TRP-2, were detectable in melanogenically-active melanocytes of the anagen bulb in human hair follicles.