Results 81 to 90 of about 2,405 (204)

Upregulation of transmembrane endothelial junction proteins in human cerebral cavernous malformations [PDF]

, 2010
OBJECT: Cerebral cavernous malformations (CCMs) are among the most prevalent cerebrovascular malformations, and endothelial cells seem to play a major role in the disease.
Chappell PM, Felbor U, Hilder TL, Revencu N, Robinson JR, Stahl S, Tsukita S, Vestweber D, Zhu Y   +8 more
core   +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

Excess stroke in Mexican Americans compared with non-Hispanic Whites: the Brain Attack Surveillance in Corpus Christi Project. [PDF]

, 2004
Mexican Americans are the largest subgroup of Hispanics, the largest minority population in the United States. Stroke is the leading cause of disability and third leading cause of death.
Akuwumi, Olubumi, Al-Senani, Fahmi, Al-Wabil, Areej, Brown, Devin L, Garcia, Nelda, Lisabeth, Lynda D, Longwell, Paxton J, McFarling, David A, Morgenstern, Lewis B, Moyé, Lemuel A, Risser, Jan M H, Smith, Melinda A, Uchino, Ken   +12 more
core   +1 more source

Actualización en malformaciones venosas [PDF]

, 2010
Venous malformations represent 2/3rds of all vascular malformations and are frequently much more complex than they appear to be. Patients with large venous malformations require a deep analytical and radiological study, as well as specific treatment ...
Aguado, L. (Leyre), Redondo, P. (Pedro)
core   +1 more source

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS

Prenatal Diagnosis, Volume 45, Issue 3, Page 326-347, March 2025.
ABSTRACT Objective The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Irene Mademont‐Soler, Neus Castells‐Sarret, Adela Cisneros, Laura Foj, Clara Benavent‐Bofill, Mar Xunclà, Marina Viñas‐Jornet, Andrea Ros, Natalia Rey, Ignacio Blanco, Ricard López‐Ortega, María Obón, Alberto Plaja   +12 more
wiley   +1 more source

Cavernous malformations: surgical management in Belo Horizonte Santa Casa Hospital [PDF]

, 2004
The better understanding of the natural history of the cavernous malformations and the improvement of diagnostic methods and of microsurgical techniques have made the management of cavernous malformations possible through the conservative treatment ...
Carvalho, Gervásio Teles Cardoso de, Fagundes-Pereyra, Wladimir Jose, Faria, Marcello Penteado, Sousa, Atos Alves de   +3 more
core   +3 more sources

Cerebral vascular malformations: pathogenesis and therapy

MedComm, Volume 5, Issue 12, December 2024.
CVMs management based on imaging genomics and liquid biopsy. In the future, somatic or de novo germline mutation information could be used to direct neurosurgical and medical management of CVMs. Somatic or germline variants can be acquired from imaging genomics or liquid biopsies preoperatively.
Qiheng He, Ran Huo, Yingfan Sun, Zhiyao Zheng, Hongyuan Xu, Shaozhi Zhao, Yang Ni, Qifeng Yu, Yuming Jiao, Wenqian Zhang, Jizong Zhao, Yong Cao   +11 more
wiley   +1 more source

Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution

eLife, 2020
Cerebral cavernous malformation (CCM) is a rare neurovascular disease that is characterized by enlarged and irregular blood vessels that often lead to cerebral hemorrhage.
Fabrizio Orsenigo, Lei Liu Conze, Suvi Jauhiainen, Monica Corada, Francesca Lazzaroni, Matteo Malinverno, Veronica Sundell, Sara Isabel Cunha, Johan Brännström, Maria Ascención Globisch, Claudio Maderna, Maria Grazia Lampugnani, Peetra Ulrica Magnusson, Elisabetta Dejana   +13 more
doaj   +1 more source

Identification of a Novel ECM Remodeling Macrophage Subset in AKI to CKD Transition by Integrative Spatial and Single‐Cell Analysis

Advanced Science, Volume 11, Issue 38, October 16, 2024.
This study sheds new light on the heterogeneous roles of macrophages in the complex and cumbersome pathological process of AKI to CKD. Integrating high‐throughput spatial and single‐cell transcriptomic data, the study identifies distinct macrophage lineages, with renal resident macrophages promoting repair and monocyte‐derived ECM remodeling ...
Yi‐Lin Zhang, Tao‐Tao Tang, Bin Wang, Yi Wen, Ye Feng, Qing Yin, Wei Jiang, Yue Zhang, Zuo‐Lin Li, Min Wu, Qiu‐Li Wu, Jing Song, Steven D. Crowley, Hui‐Yao Lan, Lin‐Li Lv, Bi‐Cheng Liu   +15 more
wiley   +1 more source