119 citations
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November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” This study observed that among patients with Myhre syndrome, those with the SMAD4 gene variant p.Arg496Cys experienced fewer symptoms like hearing loss, while those with the p.Ile500Thr variant often had severe aortic hypoplasia, highlighting the diverse symptom progression and genetic factors of this rare condition.
16 citations
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September 2015 in “International Journal of Molecular Sciences” In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.
10 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
October 2025 in “Animals” This study explored the genetic regulation of goose feather follicle development, identifying miR-200a as a key regulator that inhibits GEDF proliferation through the Wnt pathway, potentially impacting goose down quality and supporting selective breeding strategies.
September 2025 in “Frontiers in Genetics” This study developed a non-invasive, partially automated protocol for extracting high-quality DNA from hair follicles of marmosets, significantly reducing chimerism rates compared to blood, and proving reliable for whole genome sequencing in low-input DNA scenarios.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
March 2024 in “International journal of molecular sciences” In this study on Angora rabbits, researchers identified genetic factors influencing wool fiber diameter by analyzing hair follicle proteins, highlighting keratin family members and other proteins as key contributors to fiber differences between coarse and fine wool.
July 2023 in “New phytologist” This research identified a genetic mutation in Brachypodium distachyon that initially allows root hair initiation but fails to elongate them, while also affecting root growth and nitrate sensitivity; the mutation is linked to a previously uncharacterized cyclin-dependent kinase-like gene.
98 citations
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May 2016 in “Genes” This review explains the genetic diversity of sheep wool keratin-associated protein genes and explores how this variation might be leveraged for selective breeding to enhance wool fiber traits.
6 citations
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August 2024 in “BMC Ophthalmology” This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
2 citations
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May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
12 citations
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May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that disrupting Lm332 expression in mice changes keratinocyte genetic expression, alters cell shape, and disrupts epidermal homeostasis, despite some compensatory anchorage by hair follicle basal cells.
This study mapped genome-wide copy number variations in Chinese indigenous fine-wool sheep, providing a valuable genetic resource for researching complex traits and genetic diversity in this species.
March 2012 in “Hair transplant forum international” This article discusses differences in hair loss among monozygotic female twins despite identical genetics and reports no new clinical findings.
November 2025 in “Agriculture” This study applied a machine learning-based genomic analysis to identify genetic markers associated with wool traits in Central Anatolian Merino sheep, successfully highlighting loci relevant to fiber diameter, staple length, and greasy fleece yield, which could inform breeding programs to enhance wool quality and yield.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the state-of-the-art knowledge on pseudoxanthoma elasticum, summarizing recent advancements in genetics, pathomechanisms, and potential treatments but reports no new clinical findings.
2 citations
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May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
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.
August 2025 in “BMC Genomics” In this study, researchers found distinct gene expression patterns in Standardbred trotters capable of racing barefoot, suggesting a genetic basis for hoof strength and identifying specific genes involved in hoof biology, which could enhance equine performance and wellbeing through targeted genetic research.
13 citations
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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.
44 citations
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January 2015 in “Development” This study reports that human epidermal neural crest stem cells from hair follicles can be quickly differentiated into highly pure human Schwann cells without genetic manipulation, suggesting their potential for therapeutic applications.
21 citations
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August 2024 in “Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology” This paper reviews the advancements and applications of single-cell transcriptomics in animal research, highlighting its potential to enhance understanding of animal nutrition, health, genetics, and disease models.
2 citations
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July 2022 in “Frontiers in Medicine” This review discusses the current understanding of frontal fibrosing alopecia's pathogenesis, highlighting genetic susceptibility, immune response involvement, and possible links to steroid hormones, but reports no new clinical results.
1 citations
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October 2025 in “BMC Genomics” This study found that both natural and environmental selection have significantly influenced the goat genome, revealing genetic loci tied to adaptation, fitness, and productive traits, more so than artificial selection, across various goat populations.
In this study, researchers identified specific gene polymorphisms in Subo Merino sheep that significantly affect wool traits, suggesting these genetic markers could aid in breeding high-quality fine-wool sheep.
October 2025 in “International Journal of Cosmetic Science” This study observed that hair properties vary by ethnicity, influenced by genetic, environmental, and cultural factors, and noted that ethnicity-dependent differences in surface charge and other properties warrant further investigation.
May 2025 in “Ecology and Evolution” This study reports the draft genome sequence of the endangered Indus River dolphin and suggests potential genetic adaptations to freshwater environments, including specialized skin features and immune adaptations, while also highlighting historical and human-induced factors contributing to its low genetic diversity.
December 2024 in “PLoS ONE” In this study, researchers evaluated male-pattern hair loss treatments using RNA and microRNA expression profiling in 91 male participants, identifying 52 differentially expressed genes and suggesting a potential role for personalized treatment based on genetic analysis to monitor and predict treatment efficacy and compliance.
65 citations
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April 2018 in “Oncotarget” This review discusses the potential carcinogenic effects of anabolic androgenic steroids, particularly regarding Leydig cell tumors, and highlights the need for preventive information campaigns due to associated health risks.