December 2025 in “Agriculture” In this research, sequencing the chloroplast genomes of 10 Sansevieria trifasciata cultivars allowed the identification of a trnT-psbD deletion marker capable of distinguishing closely related species, and highlighted evolutionary links with Dracaena, contributing molecular tools for taxonomy and phylogenetic studies in Asparagaceae.
December 2024 in “Turkish Journal of Forensic Medicine” This review examines the role and significance of next-generation sequencing technologies in forensic identification and other forensic applications, but reports no new findings.
January 2024 in “SAGE Open Medical Case Reports” In this study, exome sequencing revealed that two brothers with ichthyosis, born to consanguineous parents, had NIPAL4 autosomal recessive congenital ichthyosis, while the older brother's blindness resulted from separate mutations in the peroxidasin gene, which were also found in an unaffected sister.
66 citations
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January 2020 in “Acta Dermato Venereologica” This article reviews genetic advances in resolving inherited ichthyoses using next generation sequencing and notes that new sequencing methods may clarify unknown types in the future.
7 citations
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September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
7 citations
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October 2023 in “BMC Genomics” In this study, researchers used transcriptome sequencing to identify various noncoding RNAs in the skin tissues of Jiangnan cashmere goats and found that certain long noncoding RNAs may play a role in regulating cashmere fiber fineness, offering new insights for breeding programs.
5 citations
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August 2023 in “G3 Genes Genomes Genetics” This study developed an improved reference genome for the African spiny mouse using long Nanopore sequencing reads, potentially aiding future research into the species' remarkable tissue regeneration capabilities.
3 citations
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August 2024 In this study, researchers using single nuclei RNA-sequencing found that fibroblasts in deeper layers of mouse skin expressed higher levels of pro-inflammatory genes post-wounding compared to other cells, highlighting their significant role in early inflammation and tissue repair processes.
2 citations
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September 2022 in “Frontiers in veterinary science” In this study, researchers used high-throughput sequencing to explore lncRNA interactions in cashmere goat hair follicles during embryonic development, finding lncRNAs potentially regulate genes in the Wnt and PI3K-Akt pathways related to hair follicle growth.
1 citations
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August 2023 in “The Journal of Pathology” In this source, recent single-cell RNA-sequencing advances reveal significant transcriptional heterogeneity among skin fibroblasts, and the discussion focuses on the distinct subtypes' roles in skin homeostasis, repair, and their evolution in fibrotic diseases like keloid scars and cancer.
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.
November 2025 in “Journal of the European Academy of Dermatology and Venereology” In this study, single-cell RNA sequencing of hair follicle populations from hidradenitis suppurativa patients identified three endotypes, suggesting distinct epithelial-immune interactions that may guide stratified therapeutic approaches.
3 citations
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October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces scINSIGHT, a method to analyze single-cell RNA sequencing data that outperforms existing techniques in identifying gene expression patterns across different biological conditions.
24 citations
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September 2007 in “Veterinary Dermatology” This report documented the first known case of Malassezia slooffiae-associated dermatitis identified in a goat through diagnostic work-up, including histology and DNA sequencing.
23 citations
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July 2020 in “BMC Genomics” This study identified a stable combination of house-keeping genes, NCBP3 + SDHA + PTPRA, for normalizing gene expression in goat skin tissues using RNA sequencing.
11 citations
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October 2017 in “Mycoses” In this case report, an 80-year-old male with severe sycosis barbae and no animal contact was successfully treated with oral terbinafine after diagnostic sequencing identified Trichophyton verrucosum as the infecting species.
3 citations
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September 2022 in “European Journal of Dermatology” This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
1 citations
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October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
1 citations
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September 2022 in “European Journal of Dermatology” This study identified a novel splice-site variant of the LAMB3 gene that may cause junctional epidermolysis bullosa, suggesting gene sequencing is essential for accurate diagnosis.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study examined 16 sporadic trichoblastic tumors and found that although one showed malignant transformation, clinical follow-up revealed no residual or metastatic disease. RNA sequencing indicated a high tumor mutational burden and absence of a UV-related signature, helping to distinguish these tumors from similar growths.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study developed a partially automated protocol utilizing hair follicles for DNA extraction in marmosets, achieving reliable whole genome sequencing with low chimerism, offering an efficient alternative to blood for genetic studies in non-human primates.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers developed a non-invasive, partially automated protocol for extracting DNA from marmoset hair follicles, resulting in high-quality whole genome sequencing with low chimerism levels, making it a reliable method compared to blood DNA sequencing in these primates.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
June 2025 in “Journal of Endocrinological Investigation” This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
February 2024 in “Veterinary sciences” This study found that canine pemphigus foliaceus skin lesions exhibit a distinct immune signature, with upregulated pro-inflammatory and Th17-related genes, showing similarities to human pemphigus. Further research using advanced sequencing is needed to better understand the disease's pathogenesis.
Among Super Merino and Small-Tailed Han sheep, this study identified differentially expressed long non-coding RNAs and mRNAs linked to hair follicle growth and fiber traits, suggesting their potential roles in regulating these important wool characteristics through RNA sequencing and gene enrichment analyses.
November 2022 in “Frontiers in pediatrics” This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.