260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
106 citations
,
March 2014 in “BioEssays” This review examines current knowledge on human epithelial hair follicle stem cells, their markers, and outlines challenges in translating findings from murine studies to human research, but does not report new experimental results.
61 citations
,
December 2016 in “The EMBO Journal” This study established a new in vitro culture system that supports the growth and dynamic self-organization of hair follicle stem cells and their progeny, promoting a stable population equilibrium.
25 citations
,
February 2019 in “Genomics” This study reports that milk goats exhibit significantly more differentially expressed genes related to hair follicle cycling across different months compared to cashmere goats, especially in December.
17 citations
,
March 2012 in “The Journal of Pathology” This article argues that lineage labeling with genetic markers is the gold standard for identifying epithelial stem cells, contrary to the view that in vitro methods alone are sufficient.
13 citations
,
May 2022 in “Cell discovery” This study used single-cell RNA sequencing to create a detailed atlas of human scalp hair follicles and found that early-stage hair graying involves matrix hair progenitor depletion linked to P53 pathway activation.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
1 citations
,
January 2021 In this study, CD4+ non-haematopoietic, skin-resident stem cell-like populations were identified in both murine and human epidermis, suggesting they may serve as potential basal cell carcinoma precursors.
144 citations
,
September 2012 in “Genes & development” This study found that aging in the epidermis disrupts cytokine balance and stem cell function, which may contribute to broader tumor-suppressive mechanisms.
17 citations
,
June 2019 in “BMC genomics” This study cataloged several long non-coding RNAs and microRNAs in cashmere goat dermal papilla cells, suggesting these non-coding RNAs may play a role in hair follicle stem cell activation and hair growth.
3 citations
,
February 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that exposing adult esophageal epithelial cells to skin stroma can induce them to transition toward a hair follicle identity, with HIF1a playing a crucial role in this conversion process.
September 2023 in “Research Square (Research Square)” This study found that TNC + fibroblasts are crucial in neuro-immune interactions in various skin diseases, particularly inflammation and tumors, by engaging extensively with immune cells and overexpressing inflammatory genes, suggesting their significant role in skin abnormalities.
January 2023 in “International journal of biological sciences” This study found that ATP synthases and the mitochondrial gene COX2 play a key role in determining the size of skin appendages in hedgehogs and mice by influencing energy metabolism and cell proliferation.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
7 citations
,
May 2021 in “EBioMedicine” This study observed that aberrant DNA methylation in murine and human cutaneous squamous cell carcinoma likely contributes to the silencing of tumor suppressor genes, notably affecting the FILIP1L gene.
14 citations
,
September 2019 in “Forensic Science International Genetics” This study found that hair shaft keratin proteins can be reliably identified from samples as small as 0.12 cm, suggesting their potential forensic utility with typical casework sample sizes.
13 citations
,
April 2022 in “BMC Genomics” This study found that dandruff-afflicted individuals had a less integrated microbial network on the scalp and hair surface compared to healthy individuals, with more positive interactions and unstable connections.
2 citations
,
July 2022 in “Journal of the Endocrine Society” This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.
August 2026 in “Journal of Genome Biotechnology and Genetics” This review found that while forensic DNA phenotyping and health applications for pigmentation genetics show potential, factors like phenotype definition and population diversity present challenges to accurate genotype-to-appearance predictions.
188 citations
,
June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
57 citations
,
January 2019 in “Stem Cell Research & Therapy” OCT4 helps hair stem cells renew and fight aging, potentially aiding hair regrowth.
22 citations
,
November 2016 in “International journal of molecular sciences” This study suggests that impaired VDR signaling in mice leads to dysregulated Ddit4 expression, impacting hair cycle progression and wound healing.
9 citations
,
May 2021 in “Frontiers in Cell and Developmental Biology” This study found that DNA methylation changes in granulosa cells from PCOS patients affect gene expression related to insulin resistance, fat cell differentiation, and steroid metabolism, suggesting an epigenetic contribution to PCOS pathogenesis.
5 citations
,
November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.
February 2024 in “New phytologist” This study reported that during wheat polyploidization, decreased DNA methylation and specific hypomethylated promoters were associated with altered gene transcription, contributing to root hair elongation and improved nitrate uptake, highlighting the role of epigenetic regulation in enhancing crop traits.
17 citations
,
October 2021 in “Cellular & Molecular Biology Letters” This study identified novel biomarkers through gene expression differences between keratinocytes and fibroblasts in newborn mice, which may aid in developing therapies for skin conditions.
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.
February 2024 in “BMC genomics” This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
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.
46 citations
,
October 2018 in “JCI insight” In this study, the researchers found that treatment with the JAK inhibitor tofacitinib in alopecia areata patients may reduce clonal CD8+ T cell expansions but does not eliminate them entirely, which could contribute to disease relapse.