47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” This study suggests that variations in PCOS phenotypes observed across different ethnic groups may be due to a genetic gradient resulting from historical human migrations and genetic drift.
1 citations
,
January 2025 in “Frontiers in Oncology” This review highlights REV7's crucial roles in maintaining genome stability, its implication in several cancers, and its association with poor prognoses and treatment resistance, while also noting that REV7 suppression may improve chemotherapy sensitivity.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that certain tandem repeats predict darker hair color across diverse ancestry groups and can contribute to a polygenic score for hair color, independent of SNP variation.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
33 citations
,
January 2018 in “International Journal of Biological Sciences” This study demonstrates the use of the CRISPR-Cas9 system to successfully edit the EDAR gene in Cashmere goats, resulting in goats with distinct hair follicle characteristics.
35 citations
,
May 2019 in “Frontiers in genetics” This study reported that specific non-coding RNAs may regulate the hair follicle cycle in Angora rabbits by acting as competitive endogenous RNAs, enhancing understanding of ncRNA roles in hair growth.
24 citations
,
March 2022 in “Genome biology” This study introduces scINSIGHT, a method that showed improved performance over existing approaches in identifying gene expression patterns and cellular processes in heterogeneous scRNA-seq datasets from different biological conditions.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
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.
9 citations
,
January 2015 in “Current problems in dermatology” This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.
173 citations
,
January 2014 in “Nature Cell Biology” This study found that Wnt signalling activates hair follicle fate in hair follicle stem cells by relieving TCF3/4–TLE-mediated repression, with β-catenin being crucial for this process.
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.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
1 citations
,
February 2016 in “Cell Transplantation” In this study, researchers found that hair follicles and dermal fibroblasts, including dermal papilla cells, supported sustained hair growth in transplanted murine models, with RNA-seq analysis revealing active signaling pathways and gene expression patterns.
18 citations
,
January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
14 citations
,
May 2020 in “Archiv für Tierzucht” This study found that genes such as FGF5, FGFR1, and RRAS may impact the growth cycle of secondary hair follicles in Inner Mongolian Cashmere goats.
13 citations
,
July 2024 in “BMC Genomics” In this study, researchers found that single SNPs have a small genetic effect on phenotypes in Inner Mongolia cashmere goats, and constructing haplotypes from associated SNPs may uncover complex variations in cashmere traits, aiding genomics and breeding efforts.
1 citations
,
July 2023 in “Journal of Animal Science and Biotechnology” This study discovered that lambs with coarse, ancestral-like wool in a population of modern fine wool sheep exhibited overexpression of the SOSTDC1 gene, linked to epigenetic changes, which helps understand the development and diversification of wool types in sheep breeding.
This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
12 citations
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June 2021 in “Scientific Reports” This study identified aging-related epigenetic and transcriptomic biomarkers and suggested that curcumin might target and inhibit the JUN gene, implicating potential therapeutic strategies against aging.
May 2018 in “Journal of Investigative Dermatology” Activating Wnt in skin cells controls the number of hair follicles by directing cell movement and fate.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
31 citations
,
March 2013 in “Gene” This study sequenced and analyzed the goat skin transcriptome, revealing genes involved in signal transduction and cell communication that are differentially expressed during hair growth phases, providing insights for Cashmere goat breeding.
26 citations
,
April 2019 in “Genes” In this study, researchers identified novel long non-coding RNAs related to cashmere fineness in goats, highlighting a potential regulatory network involving lncRNA XLOC_008679 and its target gene KRT35.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
5 citations
,
January 2021 in “iScience” Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
5 citations
,
July 2019 in “Research Square (Research Square)” This study identified key genes and pathways involved in the seasonal hair cycle regulation of yak, uncovering molecular mechanisms that may aid in understanding their adaptation to alpine environments.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
1 citations
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August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study created a detailed spatial atlas of healthy human skin and basal cell carcinoma, revealing a potential hair follicle origin for basal cell carcinoma and expansion of certain mesenchymal cell populations.