24 citations
,
September 2023 in “Science Advances” In this study, deleting the gene Mettl3 in mouse epidermal progenitors resulted in impaired epithelial development and self-renewal, highlighting m6A's crucial role in regulating chromatin modifiers and maintaining normal epithelial tissue function.
3 citations
,
January 2023 in “Science advances” This study found that ablation of Tet2/Tet3 genes in skin epithelial cells altered hair shape and length, leading to hair loss, by affecting chromatin accessibility and gene expression related to hair follicle regulation.
130 citations
,
January 2000 in “Nature biotechnology”
26 citations
,
February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
2 citations
,
January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
November 2024 in “Forensic Sciences” This review highlights the potential for using the Y chromosome in epigenetic analyses to better understand male-specific aging and disease mechanisms.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.
9 citations
,
November 2022 in “Biology” This study identified key genes and pathways related to wool follicle development in coarse wool lambs, suggesting epigenetic factors may influence wool sheep domestication and breeding.
100 citations
,
November 1997 in “Human Genetics” In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
70 citations
,
February 2009 in “Biological Trace Element Research” July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
7 citations
,
March 2022 in “Frontiers in Genetics” This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
3 citations
,
August 2022 in “International Journal of Molecular Sciences” This study demonstrated that 5-azacytidine treatment may reduce TSC lesion-related hair follicles in mice, suggesting chromatin remodeling agents could be effective for tuberous sclerosis cutaneous lesions lacking tuberin.
1 citations
,
March 2022 in “Journal of Dermatological Science” This study concluded that overexpressing TERT and BMI1 in cultured human dermal papilla cells extended their lifespan and enhanced their ability to induce hair growth in mice.
140 citations
,
October 2008 in “Nature Genetics”
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
May 2014 in “Journal of The American Academy of Dermatology” The project aimed to understand how genetic test results affect patients' actions and feelings in dermatology.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
May 2023 in “GSC biological and pharmaceutical sciences” According to this study, forensic DNA phenotyping using Next Generation Sequencing can reliably predict certain visible traits like eye, hair, and skin color, though its routine implementation in forensics is hindered by incomplete genetic knowledge and ethical concerns in some countries.
4 citations
,
November 2020 in “BMC Dermatology” This study identified 374 eQTLs in scalp hair follicles associated with genes involved in metabolic, mitotic, immune processes, and responses to steroid hormones, contributing insights into genetic variation and hair traits.
20 citations
,
August 2007 in “Molecular therapy” This study found that inducing hair follicles into the anagen-onset stage in mice enhances the immune response to a topically applied DNA vaccine against anthrax.
244 citations
,
September 2008 in “Annual Review of Genomics and Human Genetics” This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.
5 citations
,
August 2021 in “Experimental dermatology” This study suggests that Merkel cell polyomavirus T antigen-positive cells resembling Merkel cell carcinoma may originate from epithelial cells in human hair follicles, potentially informing future transgenic mouse models for this cancer.
This study reports that patients with specific MFN2 mutations, including p.Arg707Trp, exhibit significant upper body fat overgrowth with suppressed leptin production, suggesting tissue-selective mitochondrial dysfunction and potential therapeutic targets.
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
26 citations
,
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.
77 citations
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March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
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.