10 citations
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May 2025 in “Cell Biomaterials” This perspective highlights how advancements in single-cell sequencing and digital pathology can help understand the complex mechanisms of immune responses, fibrosis, and tissue remodeling related to medical implants, aiming to address the challenges of implant-related tissue reactions reported in this study.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
8 citations
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May 2025 in “Biomolecules” This review highlights the evolution of forensic genetics from basic DNA analysis to complex genome-wide studies, enabling insights into personal traits, ancestry, and habits, and suggests future advancements through technologies like CRISPR and AI.
8 citations
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December 2022 in “Nature Reviews Endocrinology” This review discusses the roles of sex hormones in COVID-19 progression and highlights conflicting evidence on their protective effects and the complexity of sex and gender influences on the disease.
8 citations
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June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
7 citations
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February 2023 in “Exploration of Medicine” This review discusses various strategies for drug repurposing in tuberculosis treatment, highlighting significant potential but reports no new clinical results.
6 citations
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April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
6 citations
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December 2021 in “International Journal of Endocrinology” This study found that the INSR His1058 C/T SNP does not increase the risk of developing PCOS among Kashmiri women.
1 citations
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January 2025 in “Journal of Fungi” This narrative review and case report identified a rare association between erythema nodosum and kerion caused by *Trichophyton mentagrophytes*, with successful treatment using antifungals and corticosteroids.
1 citations
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August 2024 in “Animals” This study suggests that variations in α-keratin proteins influence the structure and characteristics of wool fibers, indicating that keratin genes could serve as useful markers for identifying different wool traits.
1 citations
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September 2023 in “International Journal of Women’s Dermatology” This article discusses the teratogenic risks of skin condition treatments for individuals with DSD and notes that testosterone replacement, often used in this population, may cause acne.
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.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
January 2026 in “Aging and Disease” This study found that, despite confirming MC1R expression and functional cAMP signalling, α-MSH treatment did not alleviate UVA-induced stress in adult dermal fibroblasts, suggesting that α-MSH-MC1R may not directly protect against UVA-induced photoaging in these cells.
This case report of a four-year-old girl with Nicolaides-Baraitser syndrome highlights severe atopic dermatitis and worsening alopecia, suggesting that SMARCA2 dysfunction may impact skin barrier integrity and hair health, necessitating aggressive dermatologic treatment.
July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
This study identified specific gut bacterial pathways that may serve as potential therapeutic targets for managing androgenetic alopecia in obese individuals.
August 2024 in “International Journal of Women’s Dermatology” This study characterizes alopecia in ARCI, highlighting its prevalence among patients with severe forms and revealing new associated trichoscopic features.
August 2024 in “International Journal of Molecular Sciences” This study found that root hairs of wild-type Arabidopsis grow faster and longer under low potassium stress, with changes in actin filament dynamics and specific regulation by the actin bundling proteins VLN1 and VLN4.
August 2024 in “Veterinary Dermatology” This study reported that topical ω‐0‐acylceramide improved skin barrier function in Jack Russell Terriers with TGM1-deficient autosomal recessive congenital ichthyosis, normalizing skin pH and reducing transepidermal water loss.
March 2024 in “Skin research and technology” This study found that CRP levels were elevated in alopecia areata patients, with an inverse linear association between serum vitamin D and CRP levels specifically noted in ophiasis AA.
This study found that the transcription factor Meis2 is crucial for the maturation and innervation of sensory neurons responsible for light touch in mice, with its absence leading to reduced touch sensitivity.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
This study found that the Lim-homeodomain transcription factor Lhx2 regulates Sonic Hedgehog signaling during early retinal neurogenesis in mice by controlling the expression of pathway genes in retinal progenitor cells.
This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.
This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.
This study found that targeting S1PR1 signaling in mouse aortic endothelial cells helps suppress inflammation-related gene expression while revealing diverse and spatially distinct endothelial cell subtypes.
4 citations
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February 2018 in “EMBO reports” This discussion highlights the potential of next-generation sequencing in forensic science for predicting phenotypic traits from DNA samples, but reports no new clinical results and underscores ongoing ethical and legal challenges.
In this study, researchers found that the bioactive lipid sphingosine 1-phosphate and its receptor, S1PR3, are essential for regulating mechanical pain sensitivity in mice.
3 citations
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June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.