Results 71 to 80 of about 2,405 (204)

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source

Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Frontiers in Neurology, 2018
Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the
Concetta Scimone, Concetta Scimone, Luigi Donato, Luigi Donato, Luigi Donato, Zoe Katsarou, Sevasti Bostantjopoulou, Rosalia D'Angelo, Antonina Sidoti, Antonina Sidoti   +9 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

A conserved CCM complex promotes apoptosis non-autonomously by regulating zinc homeostasis

Nature Communications, 2019
Cerebral Cavernous Malformations (CCM) are often caused by mutations in CCM1/KRIT1. Here, Chapman et al. elegantly show that the CCM complex promotes apoptosis by regulating zinc homeostasis and storage via a conserved mechanism that likely generates the
Eric M. Chapman, Benjamin Lant, Yota Ohashi, Bin Yu, Michael Schertzberg, Christopher Go, Deepika Dogra, Janne Koskimäki, Romuald Girard, Yan Li, Andrew G. Fraser, Issam A. Awad, Salim Abdelilah-Seyfried, Anne-Claude Gingras, W. Brent Derry   +14 more
doaj   +1 more source

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

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

Defective autophagy is a key feature of cerebral cavernous malformations

EMBO Molecular Medicine, 2015
Cerebral cavernous malformation (CCM) is a major cerebrovascular disease affecting approximately 0.3–0.5% of the population and is characterized by enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal ...
Saverio Marchi, Mariangela Corricelli, Eliana Trapani, Luca Bravi, Alessandra Pittaro, Simona Delle Monache, Letizia Ferroni, Simone Patergnani, Sonia Missiroli, Luca Goitre, Lorenza Trabalzini, Alessandro Rimessi, Carlotta Giorgi, Barbara Zavan, Paola Cassoni, Elisabetta Dejana, Saverio Francesco Retta, Paolo Pinton   +17 more
doaj   +1 more source

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

Supernatants derived from chemotherapy-treated cancer cell lines can modify angiogenesis [PDF]

, 2012
BACKGROUND: There is evidence that tumours produce substances such as cytokines and microvesicular bodies bearing bioactive molecules, which support the carcinogenic process.
Bodman-Smith, M, Chanthirakumar, C, Coulton, G, Dalgleish, AG, Dennis, JL, Fowler, DW, Gravett, AM, Kaminska, E, Liu, WM   +8 more
core   +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