2 citations
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January 2016 in “Experimental Dermatology” This symposium updated participants on the latest advances in understanding and managing hidradenitis suppurativa, emphasizing the need for individualized treatment plans and highlighting recent progress in therapies and epidemiology.
August 2025 in “Advanced Science” In this study, corrected data confirmed that AHFS seed microspheres exhibit good biocompatibility with fibroblasts, validating the initial results.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” In this cross-sectional study, researchers observed that patients with hidradenitis suppurativa, particularly women, had lower 2D:4D finger length ratios compared to healthy controls, suggesting a potential link to prenatal androgen exposure and disease severity, though further prospective research is needed to confirm this hormonal impact.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
August 2022 in “Frontiers in genetics” This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.
19 citations
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August 2018 in “JAMA dermatology” This study found that skin mesenchymal stem cells from hidradenitis suppurativa patients overexpress proinflammatory and anti-inflammatory cytokines, suggesting their potential contribution to the disease's pathogenesis.
March 2025 in “Nature Communications” This study used human stem cell-derived skin organoids to model EV-A71 infection, revealing that various skin cell types are susceptible to the virus and identifying a potential drug target and replication inhibitor, suggesting its utility for studying skin infectious diseases and drug screening.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
12 citations
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December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.
6 citations
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January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.
10 citations
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January 2013 in “Stem Cells and Development” This study suggests that dermal stem/progenitor cells can be enriched by intracellular granularity and display high proliferation and differentiation potential in vitro, distinguishing them from other fibroblasts and progenitors.
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.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
41 citations
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May 2020 in “Frontiers in immunology” This review discusses the genetic, autoinflammatory, and keratinization factors involved in hidradenitis suppurativa and presents the concept of classifying it as an autoinflammatory keratinization disease, but reports no new clinical results.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
December 2022 in “Research Square (Research Square)” In this study, a comprehensive treatment approach involving multiple therapies was found to play a crucial role in managing hidradenitis suppurativa in patients with intellectual and developmental disorders despite practical challenges.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
89 citations
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April 2023 in “Forensic Science International Genetics” This review summarizes advancements in forensic DNA phenotyping for appearance, ancestry, and age prediction from crime scene samples, reporting no new research findings but highlighting areas needing further research and validation.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
13 citations
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November 2017 in “Neurotoxicity research/Neurotoxicity resarch” This study found that sodium metabisulfite activates sodium channels and increases cellular excitability and excitotoxicity in both cardiomyocyte and neuron models, which exacerbates seizures and neuronal damage in rats.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
July 2025 in “Journal of Investigative Dermatology” January 2000 in “Zhongguo yixue wulixue zazhi” This study observed that human hair keratin showed distinct morphological features depending on the dissolution speed, which could have potential applications in clinical settings for developing self-tendons.
This study introduced a rapid rehydration approach for creating customizable, multifunctional hydrogel sensors, enabling precise detection of surface deformations and easy integration of layers, highlighting its potential for standardized and adaptable manufacturing of wearable devices.
12 citations
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August 2022 in “Stem cell reviews and reports” This study found that PBX1 overexpression reduces hair follicle-derived mesenchymal stem cell senescence and apoptosis by interacting with SIRT1 and PARP1, highlighting a potential mechanism for addressing aging-related diseases.
August 2021 in “Research Square (Research Square)” In this study of clinical-grade ADMSCs, researchers found that cells expanded in PowerStem MSC1 media exhibited increased negative marker expression, chromosomal abnormalities, and signs of senescence compared to those cultured in StemMACS MSC Expansion Media, suggesting that the latter is more suitable for therapeutic applications.
18 citations
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December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” The authors concluded that increased expression of the HSD11B1 gene in adipose tissue correlates with obesity markers and predicts insulin resistance, but this association is independent of polycystic ovary syndrome when adiposity is controlled for.