14 citations
,
May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
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.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.
June 2025 in “Basrah Journal of veterinary Research” This article reviews the genetic diversity, clinical symptoms, diagnosis, and prevention strategies of feline calicivirus in domestic cats, but reports no new clinical results; it emphasizes the importance of vaccination and proper hygiene.
11 citations
,
September 2024 in “Journal of Advanced Research” This study found that PC 3DP models are reliable preclinical tools that could potentially customize treatment strategies and predict patient prognoses by correlating drug sensitivity profiles with clinical outcomes, though larger patient cohort validation is needed to confirm clinical utility.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
10 citations
,
December 2015 in “International Journal of Molecular Sciences” This study suggests that PDCD4 regulates keratinocyte proliferation and contact inhibition, playing a role in epidermal homeostasis and wound healing.
This article is a medical index book on disorders in obstetric practice and reports no new clinical results.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
July 2023 in “Clinical, cosmetic and investigational dermatology” In this study, reflectance confocal microscopy was used to diagnose periorificial dermatitis, revealing specific skin changes such as hair follicle dilatation, increased vascular density, and inflammation, which help distinguish it from similar conditions.
The document's conclusion cannot be determined as the content is not available.
The document's conclusion cannot be determined as the content is not available.
11 citations
,
January 2009 in “World Journal of Gastroenterology” This study reports the first documented case of Cronkhite-Canada syndrome in a patient with myelodysplastic syndrome, where corticosteroids dramatically improved the patient's condition.
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.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
July 2025 in “Ultrasound in Medicine & Biology” This study found that nanobubble-encapsulated diclofenac with ultrasound-targeted microbubble destruction (DNBs-UTMD) can enhance the anti-tumor efficacy of Doxil® by regulating the tumor immune microenvironment, improving drug uptake, and increasing T cell responses while reducing immune-suppressive cells in the process.
February 1999 in “PubMed” The document's conclusion cannot be summarized because the content is not available.
6 citations
,
August 2016 in “Journal of Visualized Experiments” This article describes a method using the CUBIC protocol to clarify and visualize molecular and cellular interactions in mouse skin biopsies at single cell resolution, but does not provide new biological findings.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
November 2025 in “Urology” This study found that the Mark Cuban Cost Plus Drug Company offers significant cost savings on men's health medications compared to both Medicare and GoodRx, particularly for erectile dysfunction treatments.
This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.
This book provides a comprehensive overview of the clinical and histopathologic diagnosis of skin diseases in dogs and cats and reports no new clinical findings.
April 2024 in “American Journal Of Pathology” This study introduced the C-CAT, a new assessment tool for central centrifugal cicatricial alopecia, and found that established treatments improved symptoms in most patients over six months.
9 citations
,
October 2022 in “Nature Communications” In this study, researchers developed a new photoactivatable Cre recombinase mouse model, DiLiCre, which allows precise light-induced genetic modifications and cell tracing, demonstrating its effectiveness for advancing biological and biomedical research.
December 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers created a coamorphous system combining tadalafil and finasteride that demonstrated improved solubility, dissolution, and stability compared to their physical mixture, offering potential therapeutic advantages for benign prostatic hyperplasia.
11 citations
,
May 2023 in “Journal of Cancer Research and Clinical Oncology” This review discusses various applications of CRISPR-based tools in cancer research, emphasizing their potential for investigating microRNA functions and developing microRNA-based therapies, despite challenges like off-target effects and delivery issues in using CRISPR/Cas9.
This entry provides publication details for the fifth edition of "de Swiet's Medical Disorders in Obstetric Practice" and does not present new research findings.
June 2026 in “Clinical Case Reports” This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.