Results 71 to 80 of about 1,864 (178)

Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells

Cells, 2021
Cerebral cavernous malformations (CCMs) are vascular lesions that affect predominantly microvasculature in the brain and spinal cord. CCM can occur either in sporadic or familial form, characterized by autosomal dominant inheritance and development of ...
Giulia Riolo, Claudia Ricci, Stefania Battistini   +2 more
doaj   +1 more source

Plasma Proteomic Profiling of a Group of Anxious Dogs by LC‐MS/MS: A Case–Control Study

PROTEOMICS – Clinical Applications, Volume 19, Issue 4, July 2025.
ABSTRACT Purpose Anxiety is the most common underlying cause of behavioral problems in dogs, which remain a top reason for relinquishment and euthanasia. Despite its high prevalence, anxiety is often underdiagnosed, partly due to a limited understanding of biological processes and absence of diagnostic biomarkers.
Claudia Gaither, Robert Popp, Christoph H. Borchers, Francis Beaudry, Marion Desmarchelier   +4 more
wiley   +1 more source

Rap1 and its effector KRIT1/CCM1 regulate β-catenin signaling [PDF]

Disease Models & Mechanisms, 2010
SUMMARYKRIT1, also called CCM1, is a member of a multiprotein complex that contains the products of the CCM2 and PDCD10 (also known as CCM3) loci. Heterozygous loss of any of the genes that encode these proteins leads to cerebral cavernous malformations (CCM), which are vascular lesions that are found in around 0.5% of humans.
Angela J, Glading, Mark H, Ginsberg
openaire   +2 more sources

Adding to Your Tool Box: Laser Therapy for Vascular Anomalies

Pediatric Dermatology, Volume 42, Issue 4, Page 716-727, July/August 2025.
ABSTRACT Adjuvant laser therapy of vascular anomalies is based on the principle of selective photo‐thermolysis, through targeted destruction of selected chromophores with minimal injury to surrounding tissue. Choice of laser wavelength, treatment parameters, and predicted response to therapy are dependent on the dominant chromophore within the vascular
Kevin V. Thomas, Todd Le, Feben Messele, Catharine B. Garland, Eric J. Monroe, Denise Metry, Yakir Levin, Kristen M. Kelly, Lisa M. Arkin   +8 more
wiley   +1 more source

Suppression of miR-21-5p by Ginsenoside Rb1 Prevents Atherosclerosis and Attenuates Endothelial Dysfunction by Inducing KRIT1

, 2021
Background Endothelial dysfunction (ED) is a risk factor contributing to atherosclerosis (AS)-related complications. MiR-21-5p is a potential therapeutic target for treating ED and can be modulated by ginsenoside Rb1 (Rb1).
Tiangang Zhou, Dehua Sun, Yunfeng Hou, Zhong-jun Zhang   +3 more
semanticscholar   +1 more source

Recent Cutting‐Edge Technologies for the Delivery of Peptide Nucleic Acid

Chemistry – A European Journal, Volume 31, Issue 34, June 17, 2025.
This review provides an overview of PNA cellular delivery methods, starting with traditional peptide‐based systems and progressing to advanced approaches using nanoparticles, liposomes, and calixarene. It highlights how these innovative strategies have opened the way for more effective and efficient PNA delivery, ultimately enhancing the potential for ...
Concetta Avitabile, Maria Teresa Cerasa, Antonia D'Aniello, Michele Saviano, Maria Moccia   +4 more
wiley   +1 more source

kri-1/KRIT1 restrains skn-1/NRF2 activation to promote innate immune and lipid homeostasis

bioRxiv
Animals must differentially allocate essential metabolic resources in response to changing environmental conditions to ensure reproductive success. For example, adult C.
Akshay Alaghatta, Samantha Y. Tse-Kang, Daniel P Bollen, K. Wani, Nicholas D. Peterson, Read Pukkila-Worley   +5 more
semanticscholar   +1 more source

Compound Heterozygous Loss‐of‐Function Variants in CCM2L in a Fetus With Tetralogy of Fallot

Molecular Genetics &Genomic Medicine, Volume 13, Issue 6, June 2025.
A potential association of CCM2L loss‐of ‐function variants with developmental anomalies of the heart. ABSTRACT Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart disease. However, our current understanding of the genetic etiology for TOF is limited.
Dandan Ling, Wanqin Xie, Xiao Mao, Zhiyu Liu, Yabing Tang, Fanjuan Kong   +5 more
wiley   +1 more source

Acceptability and somatic mutations in cervicovaginal self‐sampling for early endometrial cancer detection in women with Lynch syndrome

International Journal of Cancer, Volume 156, Issue 9, Page 1791-1801, 1 May 2025.
What's new? Self‐collected cervicovaginal samples are promising for the detection of endometrial cancer in women with Lynch syndrome. Although circumventing the need for invasive testing, self‐collection may pose challenges for this population, owing in particular to increased susceptibility to cancer.
Paula Peremiquel‐Trillas, José Manuel Martínez, Sònia Paytubi, Jon Frias‐Gomez, Beatriz Pelegrina, Fátima Marin, Yolanda Benavente, Raquel Ibáñez, Marc Barahona, Sergi Fernandez‐Gonzalez, Laura Cárdenas, Anna Taltavull, Esther Darder, Silvia de Sanjosé, Martin Widschwendter, Xavier Matias‐Guiu, Xavier Bosch, Marta Pineda, Jordi Ponce, Joan Brunet, Laia Alemany, Laura Costas   +21 more
wiley   +1 more source

Krit1 Missense Mutations Lead to Splicing Errors in Cerebral Cavernous Malformation [PDF]

The American Journal of Human Genetics, 2002
At least 40% of families affected with cerebral cavernous malformation have a mutation in Krit1. We previously identified two point mutations in Krit1 leading to changes in amino acids (D137G and Q210E) in two different families. Further RNA analysis reveals that both point mutations actually activate cryptic splice-donor sites, causing aberrant ...
Verlaan, Dominique J., Siegel, Adrian M., Rouleau, Guy A.   +2 more
openaire   +2 more sources