June 2026 in “Frontiers in Cell and Developmental Biology” In this study, researchers used single-cell RNA sequencing to map the hair follicle microenvironment in fine-wool sheep, identifying specific cell types and gene expressions that influence wool fiber diameter, with dermal papilla cells playing a significant role in hair follicle development.
March 2026 in “Scientific Data” This study mapped the genome-wide epigenetic landscape in secondary hair follicle stem cells of goats, revealing distinct histone modification signatures associated with cashmere fiber cycling during different stages of hair growth.
9 citations
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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.
This study identified 19 genetic risk loci and 16 potential causal genes related to PCOS, highlighting the role of immune cell-specific mechanisms in its pathogenesis.
12 citations
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February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
January 2026 in “Scientific Reports” In this study, researchers identified 19 genetic risk loci and highlighted 16 candidate causal genes, including immune-related ones, associated with polycystic ovary syndrome, emphasizing the role of specific immune cells like T cells and NK cells in its pathogenesis.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” This case study reports that an infant with maple syrup urine disease developed acrodermatitis dysmetabolica due to low isoleucine levels, and increasing the isoleucine dose improved the condition.
11 citations
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November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
11 citations
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January 2018 in “Royal Society Open Science” This study investigated the formation of Type III brush hair in Chinese Haimen goats and identified genetic factors that may involve heat stress in the process.
8 citations
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December 2013 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This review discusses recent advancements made in using mouse models to investigate the genetic complexity and pathogenesis of alopecia areata, emphasizing potential new treatment targets, but it reports no new findings.
44 citations
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November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
10 citations
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April 2007 in “PubMed” This review summarizes research on the synthesis and gene regulation of keratin in hair follicles, noting that coordinated gene activity is essential for hair follicle differentiation and normal hair growth, with gene clusters suggesting possible global regulatory domains.
6 citations
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April 2024 in “Journal of Investigative Dermatology” This review highlights recent advances in CRISPR-based lineage tracing methods that can improve our understanding of skin stem cell behavior, regeneration, and disease, with potential applications in organoids and model organisms.
5 citations
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February 2007 in “Cytology and genetics” This review summarizes advances in understanding the genetic regulation of keratin synthesis in hair follicles and reports no new experimental results.
In this study, researchers used transcriptome sequencing to identify 1543 differentially expressed genes between cashmere and normal goats, implicating several signaling pathways and key regulators in the distinct gene expression profiles linked to cashmere fiber production, which advances understanding of cashmere goat genetics.
September 2023 in “Animals” In this study, researchers used proteomic and metabolomic analyses to explore hair follicle development in embryonic cashmere goats, identifying significant roles for the oxytocin signalling pathway and associated networks in this process.
4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
August 2023 in “International Journal of Molecular Sciences” This review discusses the use of human-to-mouse xenografting to study human skin processes in vivo, highlighting its importance for understanding skin regeneration and pathology while identifying knowledge gaps and challenges in applying these findings to human skin.
This study identified CD28 as a promising drug target for treating alopecia areata, using a multi-omics approach to highlight its role in immune regulation and linking it to favorable safety profiles, thus offering a strategy for autoimmune target discovery.
This study identified CD28 as a potential drug target in treating alopecia areata by linking immune signaling pathways to local inflammation, highlighting belatacept as a promising treatment option due to minimal adverse effects and providing insights into autoimmune target discovery.
5 citations
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January 2016 in “Genetics and Molecular Research” This study identified 617 differentially expressed genes in cashmere goat hair follicles, which are involved in key biological processes and provide insights into hair follicle development.
17 citations
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March 2022 in “BMC Genomics” This study found that differences in cashmere fiber diameter in Tibetan cashmere goats are associated with variations in metabolic, hypoxic, and stress response-related proteins, offering insights for breeding strategies.
17 citations
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May 2018 in “BMC genomics” This study found that miR-432 inhibits KRT83 expression, revealing potential molecular mechanisms for the formation of curly fleece in Tan sheep and suggesting implications for understanding curly hair formation in humans.
November 2025 in “Frontiers in Cell and Developmental Biology” This study mapped a detailed genetic profile of goat hair follicle apoptosis, identifying key genes and regulatory factors involved in the hair cycle, offering new insights into programmed cell death.
412 citations
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January 1998 in “Science” This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.
40 citations
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November 2021 in “International Journal of Molecular Sciences” This review highlights the role of keratin mutations in epidermolysis bullosa simplex and the resulting chronic inflammation, but it presents no new experimental findings.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
3 citations
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June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
1 citations
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January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.