17 citations
,
August 2018 in “BMC Genomics” The researchers found that HOXC13 regulates different keratin proteins in a mixed manner, with certain SNPs impeding this regulation, while also demonstrating negative-feedback by HOXC13 and positive regulation by LEF1 and melatonin on the HOXC13 promoter.
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.
6 citations
,
November 2018 in “Histochemistry and Cell Biology” This study observed that gerbils exhibit a different wound healing mechanism compared to mice, with lower TGF-B1 expression and distinct tissue responses, yet achieve similar healing outcomes.
2 citations
,
August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
1 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that seasonal rhythm genes in cashmere goat skin are differentially expressed with changing daylight, potentially affecting hormone transformation and light sensitivity.
1 citations
,
August 2019 in “Research Square (Research Square)” In this study, researchers found that the cashmere hair growth cycle is divided into three periods and key genes like KAP and KRTAP are positively correlated with these cycles in cashmere goats.
August 2024 in “Journal of Animal Science and Technology” This study identified specific keratin-associated protein genes that are highly expressed in different varieties and sexes of Angora goats, providing insights for improving mohair development through targeted breeding strategies.
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.
37 citations
,
July 2002 in “Archives of Pathology & Laboratory Medicine” The authors concluded that antibodies against tyrosinase and gp100 may be effective in diagnosing melanoma, including challenging variants like amelanotic and desmoplastic types, when appropriate antigen retrieval techniques are used.
12 citations
,
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.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
7 citations
,
August 2017 in “PloS one” This study found that NIH hairless mice exhibit abnormalities in hair growth and immune-related pathways, with Pik3r1 and Pik3r3 identified as key genes for further investigation.
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
,
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.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
October 2021 in “Research Square (Research Square)” This study found that gene expression patterns can effectively distinguish the cashmere growth cycle stages and highlight molecular pathways, suggesting melatonin's role in regulating cashmere growth in Inner Mongolian goats.
June 2021 in “Research Square (Research Square)” This study reports that melatonin influences gene expression related to cashmere growth cycles in Inner Mongolian cashmere goats, potentially aiding in understanding and enhancing cashmere yield through molecular regulation.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
January 2025 in “Kuwait Journal of Science” In this study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.
3 citations
,
February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
5 citations
,
January 1981 This article reviews the classification and complexity of keratin protein groups in hair follicles, but reports no new experimental results on their transcriptional events.
247 citations
,
June 2021 in “Frontiers in Cell and Developmental Biology” This review discusses the role of lncRNA Xist in cell growth regulation and disease development, particularly cancer, and reports no new experimental results.
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.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
39 citations
,
February 1990 in “The journal of cell biology/The Journal of cell biology” This study identified trichohyalin as an early differentiation marker in hair follicles, with potential structural roles related to alpha-helical formations, based on the partial characterization of its cDNA in sheep.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
17 citations
,
June 2019 in “The journal of immunology/The Journal of immunology” This study identified a regulatory element necessary for Foxn1 expression specifically in mouse thymic epithelial cells, crucial for thymus development but not affecting hair follicles.
14 citations
,
April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
11 citations
,
October 2021 in “Frontiers in Cell and Developmental Biology” This review summarizes the role of non-coding RNAs in hair follicle regeneration and highlights potential therapeutic strategies, though it reports no new experimental results.