April 2026 in “International Journal of Engineering Research and Science & Technology” This study introduced the Vitamin Deficiency Detection System, which helps users identify potential vitamin deficiencies by analyzing symptoms they select on a user-friendly interface.
April 2023 in “Journal of Investigative Dermatology” HA-iMSC-EVs can improve skin aging by boosting cell growth and restoring collagen and elastin.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
2 citations
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December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that SYP123 and VAMP727 are involved in the secretion and transport of inner cell wall components, which is crucial for hardening the root hair shank in Arabidopsis.
December 2020 in “Macromolecular Symposia” This study found that incorporating acrylic and methacrylic acid into poly(N-vinyl-2-pyrrolidone) copolymers improves film mechanical properties but negatively affects their interaction with keratin for hair care applications.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
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.
19 citations
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May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
3 citations
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April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
January 2026 in “Biomaterials”
2 citations
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January 2014 in “Elsevier eBooks” This review discusses drug-induced hypersensitivity syndrome and drug reaction with eosinophilia and systemic symptoms, highlighting clinical features, potential viral reactivations, and treatment, but reports no new clinical findings.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
September 2015 in “Fluids and Barriers of the CNS” This study developed simulated skull models and a method to assess programming tool movements, selecting three models as most clinically relevant for hydrocephalus shunt valve programming.
February 2023 in “Journal of Plant Physiology” In this study, overexpressing the cotton gene GhGT-3b_A04 in Arabidopsis thaliana enhanced resistance to Verticillium wilt but also inhibited rosette leaf growth.
8 citations
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March 2011 in “Endocrine” In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
March 2021 in “Indian Journal of Case Reports” This case report describes a young adult female with late-stage Vogt-Koyanagi-Harada disease featuring panuveitis, retinal detachment, hearing loss, alopecia, and vitiligo, who was successfully treated in a hospital.
February 2013 in “Journal of The American Academy of Dermatology” A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
12 citations
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September 2017 in “JDR Clinical & Translational Research” In this study, researchers observed that the success of treating hereditary vitamin D–resistant rickets in children depends on the mutation location in the VDR gene, notably with favorable dental development outcomes for those with the p.R391S mutation, despite persistent alopecia.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
30 citations
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October 2010 in “Biochemical and biophysical research communications” This study found that the Gsdma3 gene is necessary for normal hair follicle differentiation in mice, with its mutation leading to progressive hair loss and defects in hair structure.
10 citations
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January 2015 in “Skin appendage disorders” This study suggests that while low-cost videomicroscopes can correctly identify hair shaft alterations, they may be unreliable for detailed follicular and perifollicular trichoscopic examination compared to standard videodermatoscopes.
12 citations
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January 2021 in “International Journal of Biological Sciences” This study generated a gene-edited cashmere goat with improved cashmere yield and fiber length by integrating VEGF at the FGF5 site, offering insights into hair growth mechanisms.
41 citations
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December 2008 in “Pediatric Dermatology” This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.
October 2025 in “DOAJ (DOAJ: Directory of Open Access Journals)” This study highlighted the significant role of VSM in cochlear aging, suggesting that changes in its structure and composition may contribute to the development of various pathologies, including congenital hearing disorders, while also identifying the need for further research on VCM-associated molecules.
April 2016 in “Journal of The American Academy of Dermatology” This study suggests that low-cost videomicroscopes may inaccurately assess certain features in hair and scalp disorders compared to standard videodermatoscopy, limiting their reliability for trichoscopy.
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.
This case study indicates that older patients with NMOSD may show favorable clinical improvements with aggressive treatment, even when the intervention is initiated later in the disease course.
2 citations
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June 2025 in “Chemical Engineering Journal” The hydrogel helps heal seawater-immersed wounds by reducing infection and inflammation.