November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.
December 2024 in “Livers” This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This case study reports that a 26-year-old woman with epidermolysis bullosa prurogompsa also presented with unique findings of co-existing muscular dystrophy and immune-based myasthenia gravis, with significant improvement following steroid treatment.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
1 citations
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July 2025 in “Scientific Reports” This study found that combining diagonal earlobe crease with lipoprotein(a) provides strong diagnostic value for coronary heart disease.
6 citations
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September 2023 in “Experimental physiology” In this study, researchers identified the PLD-mGluR protein in primary mechanosensory terminals as the homomeric GluK2 kainate receptor, functioning purely metabotropically, which is suggested to be common to various sensory endings.
This study identified seven novel CYP17A1 inhibitor scaffolds as potential leads for treating polycystic ovary syndrome through an in silico approach, demonstrating favorable interactions, drug-like properties, and predicted bioactivities warranting further experimental validation.
12 citations
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December 2016 in “Medical Hypotheses” This research suggests that the enzyme Phospholipase D from E. coli is a strong candidate as the underlying cause of benign prostatic hyperplasia, potentially mediated by its conversion to lysophosphatidic acid in the prostate.
2 citations
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July 2022 in “Journal of the Endocrine Society” This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.
18 citations
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February 2015 in “Acta Crystallographica Section D: Structural Biology” This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
24 citations
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November 2023 in “International Journal of Molecular Sciences” This review highlights that platelet-rich plasma and adipose-derived stem cell therapy may offer safe and promising improvements for managing symptoms of genital lichen sclerosus, with a potential synergistic benefit when combined.
This study found that the rs3185480 polymorphism in the APCDD1 gene was associated with an elevated risk of developing androgenic alopecia and reduced protein levels, potentially due to altered codon usage affecting translation efficiency.
40 citations
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July 2023 in “Clinical Pharmacology & Therapeutics” This review discusses the progress and challenges of targeted protein degradation therapies, highlighting the increasing number of degraders in cancer clinical trials and the limited diversity in targeted proteins, primarily focusing on those employing CRL4CRBN as the E3 ligase.
11 citations
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July 2016 in “Endocrinology” This study found that higher Lnk expression in PCOS patients may contribute to insulin resistance by inhibiting insulin signaling pathways.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
21 citations
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September 2010 in “Archives of Dermatology” This document provides a legal disclaimer and offers no research findings.
5 citations
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August 2022 in “Mediators of Inflammation” This study found that combining pulsed dye laser with pingyangmycin improved treatment efficacy, scar repair, skin condition, and patient satisfaction in treating post-acne hyperplastic scars, compared to laser alone, without increasing adverse reactions.
May 2024 in “Journal of the Egyptian Womenʼs Dermatologic Society” This study suggests that DPCP treatment can be effective and safe for severe alopecia areata in children, with maintenance therapy potentially reducing relapse rates.
3 citations
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December 2023 in “Aging” In liver cancer cells, this study found that upregulating hsa_circ_0002980 inhibits cell proliferation, metastasis, and EMT by modulating the miR-1303/CADM2 axis, suggesting it as a potential therapeutic target.
2 citations
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June 2024 in “Frontiers in Plant Science” This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” This review discusses Graham-Little Piccardi-Lasseur syndrome, a rare dermatosis with limited treatment options, emphasizing the importance of early diagnosis through physical exam and dermoscopy, but reports no new results.
January 2023 in “Indian dermatology online journal” This case report discusses a 15-year-old boy with pachyonychia congenita, identifying a keratin 17 gene mutation, and highlights the need for a national registry and more accessible genetic testing in India.
November 2025 in “JPRAS Open” This study reported that age and diabetes are major factors influencing trichilemmal cyst development and size, highlighting the importance of these conditions for risk assessment and surgical planning.
February 2026 in “Advanced Science” This study found that targeting the p300/androgen receptor axis effectively reduced AR activation and ovarian fibrosis in mouse models of polycystic ovary syndrome, suggesting a potential therapeutic approach.
20 citations
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October 2008 in “European journal of endocrinology” This study found that lipin 1β expression in both visceral and subcutaneous adipose tissue is significantly lower in PCOS patients compared to controls, suggesting its involvement in the pathogenesis of insulin resistance.
23 citations
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August 1983 in “PubMed” This case report details a 17-year-old girl with systemic lupus erythematosus and recurrent infections linked to a complete isolated Clq deficiency.
28 citations
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August 2018 in “Dermatologic Surgery” This abstract is a listing of affiliations and funding, with no new study or results reported.
July 2026 in “Journal of Investigative Dermatology”