This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.
January 2025 in “EXPERIMENTAL ANIMALS” This study found that gamma-ray exposure on the day of fertilization or the day after increased genome editing efficiency in pregnant mice using the i-GONAD method, potentially aiding in the creation of diverse experimental animal models.
This study identified CXXC5 as a key mediator of hair loss induced by PGD2 and DHT via suppression of the Wnt/β-catenin pathway, with implications for potential therapeutic targets.
December 2020 in “Research Square (Research Square)” This study identifies a strong association between a 505-bp indel mutation in the FGF5 gene and cashmere growth in goats, suggesting potential use as a genetic marker in breeding programs.
8 citations
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April 2019 in “ACS Biomaterials Science & Engineering” This study found that a new SIS-PEG sponge promoted rapid skin defect healing in mice and showed potential for reconstructing reconstituted skin with regenerated hair.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
1 citations
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in wild-type Arabidopsis plants, root hair growth is suppressed with increased nutrient availability, with RHD6 subfamily genes down-regulated and GTL1 and DF1 genes influencing root hair morphology under these conditions.
3 citations
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October 2010 in “Dermatologic Surgery” The new surgical technique for vitiligo is effective, safe, and cost-efficient.
September 2023 in “Acta dermato-venereologica” This study found that pilonidal sinus disease is a common comorbidity with hidradenitis suppurativa and is linked with increased disease severity, suggesting it may serve as a sentinel event for identifying high-risk patients.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
July 2020 in “Journal of Tissue Engineering and Reconstructive Surgery”
13 citations
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September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
1 citations
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December 2022 in “BMC Genomics” This study found that the Msx2 gene may regulate goose feather follicle development by influencing cell viability and gene expression, with potential implications for improving down production.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
27 citations
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October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
January 2006 in “Chinese Journal of Dermatology” This study suggests that polymorphisms in the androgen receptor gene's GGC repeat and the combined CAG-GGC triplet repeats are associated with androgenetic alopecia among Han men in Eastern China.
September 2025 in “Animals” In this study, researchers using Astral—DIA proteomics technology identified 67 differentially expressed proteins in Gansu alpine fine-wool sheep, linking proteins like keratin and MGST3 in pathways to wool fineness regulation, particularly highlighting their association with hair follicle development.
January 2021 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found that GDNF promotes hair formation and wound repair in mice by enhancing the function of bulge stem cells.
October 2025 in “Dermatology Practical & Conceptual” This study found that ChatGPT 4.0 and Gemini 1.5 Flash provided more accurate and user-friendly responses to androgenetic alopecia questions than Deepseek R1, suggesting they could be effective tools for patient education with physician guidance.
November 2020 in “World Journal of Integrated traditional and western Medicine(WJIM)” This study reports on three cases where Shengyang Sanhuo Decoction, a traditional treatment, was used to address alopecia by supporting spleen and stomach health, as theorized to counteract causes like emotional stress and improper diet.
June 2018 in “The Journal of Sexual Medicine” This study used high-resolution ultrasound to investigate the pathophysiology of persistent erectile dysfunction in young men who used the drug finasteride, observing differences in erectile tissue homogeneity compared to control subjects without finasteride exposure.
September 2019 in “Journal of Investigative Dermatology” This study introduced a reproducible human model using 3D-SeboSkin technology to study hidradenitis suppurativa, allowing better maintenance of skin integrity and replication of biomarker expression patterns compared to traditional skin cultures, suggesting its value for further research.
April 2017 in “Journal of Investigative Dermatology” In this study, the novel isoprenylcysteine analog SIG-1451 was shown to inhibit pro-inflammatory cytokine release in various cell-based assays relevant to allergic dermatitis, acting on targets such as IL-4 and IL-6 with potential anti-inflammatory benefits.
47 citations
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June 2017 in “The FEBS journal” This study found that CRISPR/Cas9-induced loss-of-function mutations in the FGF5 gene significantly increased wool length and yield in genetically modified Chinese Merino sheep compared to wild-type controls.
1 citations
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August 2025 in “Genes” This study identified genetic variations that could serve as candidate markers for improving body conformation traits in Kazakh fat-tailed coarse-wool sheep through marker-assisted selection.
2 citations
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January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, a novel geometric medicine approach, utilizing the N-K Universal Computer, was reported to eliminate aflatoxin contamination and significantly reduce cancer rates across the "Aflatoxin Belt" through precision targeting of harmful fungi while preserving ecological balance, without observed toxicity or resistance.