Results 151 to 160 of about 1,834 (180)

Mutations in KRIT1 in Familial Cerebral Cavernous Malformations

Neurosurgery, 2000
The recognition of six unrelated Hispanic-American families in which cerebral cavernous malformations (CCM) segregated as an autosomal dominant trait established a genetic basis for this disease. Linkage analysis subsequently identified locus heterogeneity with disease genes for CCM at chromosomal regions 7q, 7p, and 3q. Recently, mutations in KRIT1, a
J, Zhang, R E, Clatterbuck, D, Rigamonti, H C, Dietz   +3 more
openaire   +2 more sources

INTERACTION BETWEEN KRIT1 AND MALCAVERNIN

Neurosurgery, 2007
Cerebral cavernous malformations (CCM) are a relatively common autosomal dominant disorder leading to the formation of vascular malformations in the nervous system. Mutations in krit1 and malcavernin, the proteins encoded by the genes at the CCM1 and CCM2 loci, respectively, are responsible for the majority of CCMs.
Jun, Zhang, Daniele, Rigamonti, Harry C, Dietz, Richard E, Clatterbuck   +3 more
openaire   +2 more sources

KRIT1‐positive hyperkeratotic cutaneous capillary venous malformation

Pediatric Dermatology, 2021
AbstractCerebral cavernous malformations (CCM) may present in sporadic or familial forms, with different cutaneous manifestations including deep blue nodules, capillary malformations, and hyperkeratotic cutaneous capillary venous malformations (HCCVM). We report the case of an infant with a KRIT1‐positive HCCVM associated with familial CCM.
Bayan Matarneh, Catherine E. Cottrell, Samantha Choi, Gregory Pearson, Bonita Fung, Selene C. Koo, Anna P. Lillis, Mai‐Lan Ho, Esteban Fernandez Faith   +8 more
openaire   +2 more sources

Identification of Eight Novel 5′-Exons in Cerebral Capillary Malformation Gene-1 (CCM1) Encoding KRIT1

Biochimica Et Biophysica Acta Gene Regulatory Mechanisms, 2001
Truncating mutations in the CCM1 gene encoding KRIT1 were recently found in patients affected by inherited cerebral capillary malformations, lesions that cause a wide variety of neurologic problems. However, CCM1 mutations have not been identified in all
Miikka Vikkula
exaly   +2 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,
Irena Tsui, Michael B Gorin, Bradley R Straatsma   +2 more
exaly   +2 more sources

KRIT1 nuclear localization does not impair KRIT1 ‐dependent regulation of endothelial barrier permeability and cell homeostasis

The FEBS Journal
KRIT1 plays a key role in regulating the barrier function of endothelial cells, where it localizes to the adherens junctions, cytoplasm, and nucleus. However, how subcellular localization may regulate KRIT1 remains unclear. Here, we investigate what effect nuclear localization has on its ability to stabilize the endothelial barrier.
Andrea Perrelli, Angela J. Glading
openaire   +2 more sources

KRIT1 MODULATES β1-INTEGRIN-MEDIATED ENDOTHELIAL CELL PROLIFERATION

Neurosurgery, 2008
Using ribonucleic acid interference on cultured cell lines, we examined the role of Krev interaction trapped 1 (krit1) and integrin cytoplasmic domain-associated protein-1 alpha (icap1alpha) in beta1-integrin-mediated cell proliferation.Upon depletion of either krit1 or icap1alpha in the HeLa cells, umbilical vein endothelial cells, and microvascular ...
Jun, Zhang, Sharmila, Basu, Daniele, Rigamonti, Harry C, Dietz, Richard E, Clatterbuck   +4 more
openaire   +2 more sources

Identification of two novel mutations and of a novel critical region in the KRIT1 gene

Neurogenetics, 2006
Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to hemorrhagic strokes and focal neurological signs. Mutations in three genes (KRIT1, MGC4607, and PDCD10) have been associated with CCMs.
V. Guarnieri, L. Muscarella, R. Amaroso, Quattrone, Alessandro, M. Abate, M. Coco, D. Catapano, V. D'Angelo, L. Zelante, L. D'Agruma   +9 more
openaire   +3 more sources

Large Cystic Cavernous Malformation in Infant with Novel KRIT1 Gene Abnormality

World Neurosurgery, 2019
Intracranial cavernous malformation are vascular lesions that can present for urgent surgical intervention. Occurrence in the infant demographic is extremely rare, and presentation can vary greatly. We present a striking clinical image of a large cavernous malformation with a larger cystic component in an infant that was successfully treated with ...
Victor M, Lu, David J, Daniels
openaire   +2 more sources

Status epilepsy in CCM with KRIT1 gene change

European Journal of Paediatric Neurology, 2014
Emily V. Craft, Pradeep C. Vasudevan
openaire   +2 more sources