Results 71 to 80 of about 1,269 (145)

Club cell‐specific telomere protection protein 1 (TPP1) protects against tobacco smoke‐induced lung inflammation, xenobiotic metabolic dysregulation, and injurious responses

FASEB BioAdvances, Volume 6, Issue 2, Page 53-71, February 2024.
Abstract Inhaling xenobiotics, such as tobacco smoke is a major risk factor for pulmonary diseases, e.g., COPD/emphysema, interstitial lung disease, and pre‐invasive diseases. Shelterin complex or telosome provides telomeric end protection during replication.
Thivanka Muthumalage, Chiara Goracci, Irfan Rahman   +2 more
wiley   +1 more source

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation.

, 2000
Hyperkeratotic capillary-venous malformations (HCCVMs) are rare cutaneous lesions that occur in a small subgroup of patients with cerebral capillary malformation (CCM).
Boon, Laurence M., Mulliken, J B, Eerola, I, Plate, K H, Vikkula, Miikka, Spiegel, R   +5 more
core   +1 more source

Structural basis of the junctional anchorage of the cerebral cavernous malformations complex [PDF]

, 2012
The products of genes that cause cerebral cavernous malformations (CCM1/KRIT1, CCM2, and CCM3) physically interact. CCM1/KRIT1 links this complex to endothelial cell (EC) junctions and maintains junctional integrity in part by inhibiting RhoA.
Alexandre R. Gingras, Jian J. Liu, Gingras, Alexandre R, Liu, Jian J, Ginsberg, Mark H, Mark H. Ginsberg   +5 more
core   +1 more source

A mechanism of Rap1-induced stabilization of endothelial cell–cell junctions [PDF]

, 2011
Activation of Rap1 small GTPases stabilizes cell–cell junctions, and this activity requires Krev Interaction Trapped gene 1 (KRIT1). Loss of KRIT1 disrupts cardiovascular development and causes autosomal dominant familial cerebral cavernous ...
Jian J. Liu, Alexandre R. Gingras, Liu, Jian J, Gingras, Alexandre R, Stockton, Rebecca A, Han, Jaewon, Ginsberg, Mark H, Ablooglu, Ararat J, Mark H. Ginsberg, Andrey A. Bobkov, Jaewon Han, Rebecca A. Stockton, Ararat J. Ablooglu, Bobkov, Andrey A   +13 more
core   +1 more source

Circulating biomarkers in familial cerebral cavernous malformationResearch in context

EBioMedicine
Summary: Background: Cerebral Cavernous Malformation (CCM) is a rare cerebrovascular disease, characterized by the presence of multiple vascular malformations that may result in intracerebral hemorrhages (ICHs), seizure(s), or focal neurological ...
Francesca Lazzaroni, Jennifer M.T.A. Meessen, Ying Sun, Silvia Lanfranconi, Elisa Scola, Quintino Giorgio D'Alessandris, Laura Tassi, Maria Rita Carriero, Marco Castori, Silvia Marino, Adriana Blanda, Enrico B. Nicolis, Deborah Novelli, Roberta Calabrese, Nicolò M. Agnelli, Barbara Bottazzi, Roberto Leone, Selene Mazzola, Silvia Besana, Carlotta Catozzi, Luigi Nezi, Maria G. Lampugnani, Matteo Malinverno, Nastasja Grdseloff, Claudia J. Rödel, Behnam Rezai Jahromi, Niccolò Bolli, Francesco Passamonti, Peetra U. Magnusson, Salim Abdelilah-Seyfried, Elisabetta Dejana, Roberto Latini   +31 more
doaj   +1 more source

intronic variants

, 2021
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system which may occur sporadically or segregate within families due to heterozygous variants in KRIT1/CCM1, MGC4607/CCM2 or PDCD10/CCM3.
Antonio Petracca, Nicola Paciello, Gambardella, Stefano, Grazia Nardella, Silvia Lanfranconi, Stefania Zampatti, Marco Castori, Di Giacomo, Marilena, Nardella, Grazia, Castori, Marco, D'Agruma, Leonardo, Lucia Micale, Carmela Fusco, Paciello, Nicola, Marilena Di Giacomo, Lanfranconi, Silvia, Zampatti, Stefania, Ronchi, Dario, Micale, Lucia, Leonardo D'Agruma, Fusco, Carmela, Dario Ronchi, Stefano Gambardella, Petracca, Antonio   +23 more
core   +1 more source

Pharmacological Manipulation of HEG1-KRIT1 Protein Complex Modulates Endothelial Vasoprotective Functions through Expression of KFL4/2

, 2020
Endothelial cells (EC) line the entire circulatory system and control the passage of materials into and out of the bloodstream. EC dysfunction is damage to EC that impairs the function of the endothelium, and plays a central role in the development of ...
Rojas, Antonio, Gingras, Alex, Dr.
core  

KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation [PDF]

, 2017
Hyperkeratotic capillary-venous malformations (HCCVMs) are rare cutaneous lesions that occur in a small subgroup of patients with cerebral capillary malformation (CCM).
Eerola, Iiro, Boon, Laurence M., Spiegel, Roland, Plate, Karl H., Vikkula, Miikka, Mulliken, John B.   +5 more
core  

Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity [PDF]

, 2010
Endothelial cell-cell junctions regulate vascular permeability, vasculogenesis, and angiogenesis. Familial cerebral cavernous malformations (CCMs) in humans result from mutations of CCM2 (malcavernin, OSM, MGC4607), PDCD10 (CCM3), or KRIT1 (CCM1), a Rap1
Robert Shenkar, Stockton, Rebecca A, Awad, Issam A, Rebecca A. Stockton, Issam A. Awad, Ginsberg, Mark H, Mark H. Ginsberg, Shenkar, Robert   +7 more
core   +1 more source

Identification of the adhesion GPCR ADGRL4/ELTD1 as a novel potential prognostic biomarker for cerebral cavernous malformation disease

Molecular Medicine
Background Cerebral cavernous malformations (CCM) are angiographically occult vascular anomalies of the brain, characterized by dilated capillaries, increased vascular permeability, and loss of endothelial junctional protein complexes.
Andrea Perrelli, Ashraqat Ahmed, Anna Onisiforou, Gwenola Boulday, Juan Zalvide, Celia M. Pombo, José E. Martínez, Alessio Paolini, Salim Abdelilah-Seyfried, Ioannis Petrakakis, Wolfram S. Kunz, Robert Geffers, Christian Hartmann, Walter Bini, Gerasimos Baltsavias, Amir Samii, Helmut Bertalanffy, Saverio F. Retta, Angela J. Glading, Souvik Kar   +19 more
doaj   +1 more source