Results 151 to 160 of about 2,140 (195)

Fulminant Intracranial Hypertension Secondary to Multiple Cavernomas: A Rare Association. [PDF]

Ann Indian Acad Neurol
Bhandari V, Jain S, Agarwal A, Garg D, Gaikwad SB, Srivastava AK.   +5 more
europepmc   +1 more source

Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot. [PDF]

Mol Genet Genomic Med
Ling D, Xie W, Mao X, Liu Z, Tang Y, Kong F.   +5 more
europepmc   +1 more source

Histone and non-histone (de)acetylation impact on the blood-brain barrier. [PDF]

Fluids Barriers CNS
Melo M, Fortuna A, Laranjinha J, Bicker J.   +3 more
europepmc   +1 more source

Inflammation in Cerebral Cavernous Malformations: Differences Between Malformation Related Epilepsy vs. Symptomatic Hemorrhage. [PDF]

Cells
Rodemerk J, Engel A, Horstmann JLH, Rauschenbach L, Darkwah Oppong M, Santos AN, Junker A, Deuschl C, Forsting M, Zhu Y, Jabbarli R, Wrede KH, Schmidt B, Sure U, Dammann P.   +14 more
europepmc   +1 more source

Novel CCM1, CCM2, and CCM3 Mutations in Patients With Cerebral Cavernous Malformations: In-Frame Deletion in CCM2 Prevents Formation of a CCM1/CCM2/CCM3 Protein Complex

Human Mutation, 2008
Cerebral cavernous malformations (CCM) are prevalent cerebrovascular lesions predisposing to chronic headaches, epilepsy, and hemorrhagic stroke. Using a combination of direct sequencing and MLPA analyses, we identified 15 novel and eight previously published CCM1 (KRIT1), CCM2, and CCM3 (PDCD10) mutations.
Mario Habek, Christian Netzer, Oguzkan Sürücü   +2 more
exaly   +5 more sources

A Novel Large Deletion in CCM1 Gene in a Tunisian Family

Revue Neurologique, 2019
Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one
Elisabeth Tournier-Lasserve, F Riant
exaly   +5 more sources

Endothelial Differentiation of CCM1 Knockout iPSCs Triggers the Establishment of a Specific Gene Expression Signature [PDF]

International Journal of Molecular Sciences, 2023
Cerebral cavernous malformation (CCM) is a neurovascular disease that can lead to seizures and stroke-like symptoms. The familial form is caused by a heterozygous germline mutation in either the CCM1, CCM2, or CCM3 gene.
Matthias Rath, Sander Bekeschus, Dariush Skowronek   +2 more
exaly   +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

CCM1 And the Second Life of Proteins in Adhesion Complexes [PDF]

Cell Adhesion and Migration, 2014
It is well recognized that a number of proteins present within adhesion complexes perform discrete signaling functions outside these adhesion complexes, including transcriptional control. In this respect, β-catenin is a well-known example of an adhesion protein present both in cadherin complexes and in the nucleus where it regulates the TCF ...
Boudewijn M T Burgering, Maaike C W van den Berg   +1 more
exaly   +3 more sources