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.
55 citations
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April 2008 in “Clinical Genetics” This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
21 citations
,
September 2005 in “The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology/Anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology” This study reports that caspase-14's expression pattern in the epidermis and hair follicles is highly conserved across diverse mammalian species, suggesting its early evolutionary role in mammalian skin maturation.
March 2016 in “Benha Veterinary Medical Journal” This study investigated the gene Col19a1, finding its expression is specific to certain cells during hair follicle development in mice, suggesting its potential role in hair follicle morphogenesis.
51 citations
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January 2007 in “Animal Genetics” This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.
24 citations
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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.
May 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study identified 4,942 differentially expressed genes and key candidate genes involved in the hair follicle development and cashmere quality differences between Jiangnan and Changthangi goats, highlighting potential molecular targets for genetic improvement of cashmere goats.
This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.
17 citations
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September 1953 in “Journal of Cell Science” This study found that the tetrazolium salt INT is the most effective for revealing dehydrogenase activity and certain histological structures in sheep and other mammals' skin.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
25 citations
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May 2016 in “Progress in Biophysics & Molecular Biology” This article reviews the role of R-spondins and their receptors in bone development and metabolism, highlighting their potential modulatory effects and clinical implications for treating bone loss diseases, but reports no new clinical results.
2 citations
,
February 2023 in “Research Square (Research Square)” In this study, a newly engineered scaffold, PADM-MX-Ag-Si@Dox, demonstrated potential as a multifunctional biomaterial for postoperative melanoma treatment by controlling drug release, enhancing wound healing, and enabling real-time tumor surveillance through temperature, pH, and electrical stimuli.
April 2023 in “Journal of Investigative Dermatology” This study found that PX-12 inhibited the NLRP3 inflammasome and reduced psoriasis-like symptoms in a mouse model, suggesting its potential as a treatment for psoriasis.
October 2023 in “Journal of dermatological science” This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
4 citations
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February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
191 citations
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November 1959 in “Annals of the New York Academy of Sciences” This article reports electron microscope studies on the structure of hair and wool, but it does not present new clinical findings.
2 citations
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August 2023 in “The Journal of Animal and Plant Sciences” This study identified 1277 genomic regions selected for traits in indigenous Chinese goats, including cashmere fiber, reproduction, size, and high-altitude adaptation, revealing key candidate genes for these phenotypes through whole-genome resequencing.
9 citations
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November 2019 in “Cell calcium” This study found that a mutation causing Stormorken syndrome in mice led to skeletal abnormalities and unusual hair growth, showcasing the STIM1 R304W protein’s role in bone development and cell fate.
July 2026 in “Journal of Ovarian Research” In this study, researchers used single-cell RNA sequencing to identify seven cell types, including distinct steroidogenic and immune cells, in the tumor microenvironment of a case of ovarian SCT-NOS, providing insights into its cellular heterogeneity and molecular mechanisms related to hyperandrogenism.
14 citations
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December 2016 in “PloS one” This study found that Keratin 26 is expressed differently in hair follicle phases, particularly during catagen and telogen, influencing cashmere growth and interacting antagonistically with the BMP signaling pathway.
28 citations
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August 2018 in “BMC genomics” This study found that the DNA methylation status of skin samples from cashmere goats was higher during the telogen stage compared to the anagen stage, identifying genes potentially important for hair follicle development and growth.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
March 2025 in “Animal Bioscience” In this study, researchers conducted a whole-transcriptome analysis of Dazu Black Goats and Inner Mongolia Cashmere Goats to explore differences in hair follicle development and melanin production, revealing variations in hair characteristics and 640 differentially expressed RNAs that could inform goat breeding and textile applications.
October 2023 in “International journal of molecular sciences” In this study, researchers analyzed the skin proteome of Alpine Merino sheep to identify proteins and pathways related to wool fiber diameter, finding that cyclic adenosine monophosphate and certain signaling pathways may play a role in this trait.
5 citations
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March 2017 in “Gene” This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.
33 citations
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March 1994 in “PubMed” This study reported that high ornithine decarboxylase expression and decreased keratin K1 and K10 expression may serve as useful markers for early stages of tumor development in mouse skin.
46 citations
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August 2006 in “Mechanisms of Development” Runx1 is crucial for proper hair structure and development.
35 citations
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June 2012 in “PloS one” This study suggests that Keratin 15 expression in stratified epithelia may be regulated by two distinct mechanisms involving PKC/AP-1 pathway for differentiation and FOXM1 for basal cells, challenging its reliability as a sole stem cell marker.