Results 131 to 140 of about 1,269 (145)

Integrative single-cell RNA-seq and ATAC-seq analysis reveals the key role of inflammatory cell activation in pulmonary arterial hypertension. [PDF]

Front Immunol
Yang Y, Lei Y, Wu B, Ning K, Shen Y, Wang X, He J, Zhang J, Liu C, Qin Z.   +9 more
europepmc   +1 more source

Sorting nexin 17, a non-self-assembling and a PtdIns(3)P high class affinity protein, interacts with the cerebral cavernous malformation related protein KRIT1

Biochemical and Biophysical Research Communications, 2006
The mammalian sorting nexin (SNX) proteins are involved in the endocytosis and the sorting machinery of transmembrane proteins. Additionally to the family defining phox homology (PX) domain, SNX17 is the only member with a truncated FERM (4.1, ezrin, radixin, and moesin) domain and a unique C-terminal region (together designated as FC unit).
Peter Knauth, Thomas SchlÜter
exaly   +4 more sources

Identification of the KRIT1 Protein by LexA-Based Yeast Two-Hybrid System

, 2020
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system that is associated with leaky capillaries, and a predisposition to serious clinical conditions including intracerebral hemorrhage and seizures. Germline or sporadic mutations in the CCM1/KRIT1 gene are responsible for the majority of cases of CCM.
Serebriiskii I.G., Elmekawy M., Golemis E.A.   +2 more
openaire   +3 more sources

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Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test

Journal of the Neurological Sciences, 2003
Familial cerebral cavernous malformation (CCM) exhibits autosomal dominant inheritance and is characterized by vascular disorders of the brain, which can lead to seizures, focal neurological deficits, hemorrhagic stroke, and migraine. Three CCM loci have been mapped, but the gene for only one locus--KRIT1 coding for Krev-1/rap1 interaction trapped 1 ...
Loretta Ferrera, Giuseppe Viale, Paola Origone   +2 more
exaly   +3 more sources

KRIT1/Cerebral Cavernous Malformation 1 Protein Localizes to Vascular Endothelium, Astrocytes, and Pyramidal Cells of the Adult Human Cerebral Cortex

Neurosurgery, 2004
Mutations in KRIT1 cause familial cerebral cavernous malformation, an autosomal dominant disorder affecting primarily the central nervous system vasculature. Although recent studies have suggested that Krev-1 interaction trapped 1 (KRIT1) is a microtubule-associated protein that interacts with integrin cytoplasmic domain-associated protein-1alpha, the ...
Richard P Lifton, Murat Gunel
exaly   +3 more sources

KRIT1 Deficiency Promotes Aortic Endothelial Dysfunction [PDF]

International Journal of Molecular Sciences, 2019
Loss-of-function mutations of the gene encoding Krev interaction trapped protein 1 (KRIT1) are associated with the pathogenesis of Cerebral Cavernous Malformation (CCM), a major cerebrovascular disease characterized by abnormally enlarged and leaky ...
Francesco Vieceli Dalla Sega, Raffaella Mastrocola, Giorgio Aquila   +2 more
exaly   +3 more sources

KRIT1 as a possible new player in melanoma aggressiveness

Archives of Biochemistry and Biophysics, 2020
Krev interaction trapped protein 1 (KRIT1) is a scaffold protein known to form functional complexes with distinct proteins, including Malcavernin, PDCD10, Rap1 and others. It appears involved in several cellular signaling pathways and exerts a protective
Federica Finetti, Brittany Woodby, Clélia Miracco   +2 more
exaly   +2 more sources

PTEN/PI3K/Akt/VEGF signaling and the cross talk to KRIT1, CCM2, and PDCD10 proteins in cerebral cavernous malformations

Neurosurgical Review, 2014
Cerebral cavernous malformations (CCM) are common vascular malformation of the brain and are associated with abnormal angiogenesis. Although the exact etiology and the underlying molecular mechanism are still under investigation, recent advances in the identification of the mutations in three genes and their interactions with different signaling ...
Hartmann, Christian, Zhu, Yuan, Sure, Ulrich   +2 more
openaire   +3 more sources

Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation [PDF]

Graefe's Archive for Clinical and Experimental Ophthalmology, 2010
Retinal cavernous hemangiomas are rare vascular anomalies, and can be associated with cerebral cavernous malformations (CCM). Distinct mutations have been reported in patients who have both CCMs and retinal cavernous hemangiomas. Fluorescein angiography,
Shantan Reddy, Irena Tsui, Bradley R Straatsma   +2 more
exaly   +2 more sources