13 citations
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October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
2 citations
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October 2023 in “PubMed” This study reported the creation of isogenic immortalized COL7A1-deficient keratinocyte lines, providing a model for researching Recessive Dystrophic Epidermolysis Bullosa biology and potential therapies.
11 citations
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January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
November 2018 in “Journal of dermatology & cosmetology” This manuscript reports on the first case of perforating necrobiosis lipoidica in Colombia, marking the 19th documented case worldwide.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.
43 citations
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December 2020 in “PLOS Genetics” This study used a new statistical approach, PLACO, to identify several novel shared genetic regions associated with both Type 2 Diabetes and Prostate Cancer in two large GWAS datasets.
92 citations
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April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
14 citations
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August 2015 in “Endocrinology” This study describes the development of a monoclonal antibody, 005-C04, which blocks PRLR-mediated signaling, suggesting its potential for furthering understanding of PRLR's role in health and disease.
38 citations
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January 2017 in “PPAR Research” This review discusses the role of PPAR-γ in the pathogenesis of primary cicatricial alopecia, including its involvement in lichen planopilaris and treatment trials using PPAR-agonists, and reports no new clinical results.
2 citations
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” This study found no evidence that CTLA-4 gene polymorphism (rs733618) plays a role in polycystic ovarian syndrome among the participants.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
September 2024 in “Cureus” In this study, researchers optimized a method for preparing platelet-rich plasma to improve light transmittance aggregometry testing in coronary artery disease patients on clopidogrel and ticagrelor, finding distinct differences in platelet aggregation and volumes among these patients compared to healthy controls.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
9 citations
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January 1997 in “Horticultura: Revista de industria, distribución y socioeconomía hortícola: frutas, hortalizas, flores, plantas, árboles ornamentales y viveros” In this study, researchers found that the transcriptional program regulated by PRC2 is not necessary for maintaining hair follicle stem cell quiescence and hair regeneration in vivo.
27 citations
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September 1992 in “The Lancet” ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.
May 2017 in “Journal of The American Academy of Dermatology” 595 nm pulsed dye laser is a cost-effective treatment for nonmelanoma skin cancer with a low recurrence rate.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
This study demonstrated that de novo designed bifunctional proteins can target and degrade BCL-xL, leading to cell apoptosis, suggesting a new approach to targeted protein degradation therapy.
March 2026 in “International Journal of Science Strategic Management and Technology” This research introduces WomenCare, a web-based system using a machine learning model to predict PCOD risk by evaluating factors like age, BMI, and lifestyle habits; it aims to help women monitor their health but is not a substitute for a professional diagnosis.
10 citations
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January 2020 in “Genes & Diseases” In this study, circ-Smad5 was found to inhibit the proliferation and cell cycle progression of JB6 cells by suppressing Wnt/β-catenin/Lef 1 signaling activation, marking the first report of its function.
March 1998 in “Journal of dermatological science” Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
This phase Ib study found that combining pegylated liposomal doxorubicin and pembrolizumab was well-tolerated and effective, with durable antitumor responses and a median survival of over two years in heavily pretreated ER-positive metastatic breast cancer patients.
15 citations
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January 2020 in “RSC advances” In this study, researchers developed a new Supported Ionic Liquid Phase palladium catalyst that showed effectiveness in aminocarbonylation reactions for synthesizing pharmaceutical compounds like CX-546 and a precursor of Finasteride, though results were sensitive to substrate variations and prompted palladium leaching concerns.
54 citations
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October 2007 in “The FASEB Journal” This study suggests that hairlessness in nude mice may be due to insufficient expression of phospholipase C-δ1, a molecule essential for normal hair development downstream of the Foxn1 gene.
1 citations
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June 2022 in “JCRPE” This study reports that metreleptin treatment in a boy with congenital generalized lipodystrophy significantly improved metabolic complications and overall health outcomes during the first year of therapy.
260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
This case study reports that a 35-year-old woman developed nonscarring alopecia following the cosmetic use of poly-L-lactic acid on her face and hairline.