Results 71 to 80 of about 2,366 (190)

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

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

A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation

Frontiers in Neurology, 2020
Cerebral cavernous malformations (CCMs) are the second most prevalent type of vascular malformation within the central nervous system. CCMs occur in two forms—sporadic and familial—the latter of which has an autosomal dominant mode of inheritance with ...
Lipeng Yang, Jian Wu, Jing Zhang
doaj   +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

Familiäre Kavernome des Zentralnervensystems: Eine klinische und genetische Studie an 15 deutsche Familien [PDF]

, 2018
Zusammenfassung: 1928 beschrieb Hugo Friedrich Kufs erstmalig eine Familie mit zerebralen, retinalen und kutanen Kavernomen. Mittlerweile wurden über 300 weitere Familien beschrieben.
Andermann, E., Andermann, F., Baumann, C., Bertalanffy, H., Dichgans, J., Elger, C., Hopf, H., Hopf, N., Keidel, M., Kleider, A., Nowak, G., Pfeiffer, R., Rouleau, G., Schramm, J., Siegel, A., Spuck, S., Stefan, H., Sure, U., Verlaan, D.   +18 more
core  

Tianshengyuan-1 (TSY-1) regulates cellular Telomerase activity by methylation of TERT promoter. [PDF]

, 2016
Telomere and Telomerase have recently been explored as anti-aging and anti-cancer drug targets with only limited success. Previously we showed that the Chinese herbal medicine Tianshengyuan-1 (TSY-1), an agent used to treat bone marrow deficiency, has a ...
Chow, Michelle, Jin, Yusheng, Li, Yawei, Qin, Xiaotian, Rao, Jianyu, Santiskulvong, Chintda, Vu, Victor, Yu, Weibo, Zeng, Gang, Zhang, Zuofeng   +9 more
core   +2 more sources

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

KRIT1 heterozygous mutations are sufficient to induce a pathological phenotype in patient-derived iPSC models of cerebral cavernous malformation

Cell Reports
Summary: Cerebral cavernous malformation (CCM) is a neurovascular disease distinguished by clusters of leaky, mulberry-like blood vessels. KRIT1 bi-allelic loss-of-function mutations in endothelial cells are known to trigger brain cavernomas; however ...
Maximiliano Arce, Iza Erzar, Fan Yang, Neeharika Senthilkumar, Favour C. Onyeogaziri, Dario Ronchi, Frida C. Ahlstrand, Nora Noll, Roberta Lugano, Mark Richards, Elisa Scola, Monica Corada, Francesca Lazzaroni, Linda Meggiolaro, Jens Schuster, Niklas Dahl, Mika Niemelä, Behnam Rezai Jahromi, Anna Dimberg, Silvia Lanfraconi, Roberto Latini, Peetra U. Magnusson   +21 more
doaj   +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

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