Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: Evidence for a common biochemical pathway for CCM pathogenesis

Human Molecular Genetics

Volumn 23, Issue 16, 2014, Pages 4357-4370

  McDonald, David A ^a,f   Shi, Changbin ^b   Shenkar, Robert ^b   Gallione, Carol J ^a   Akers, Amy L ^a,c   Li, Stephanie ^a   De Castro, Nicholas ^a   Berg, Michel J ^d   Corcoran, David L ^e   Awad, Issam A ^b   Marchuk, Douglas A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c Angioma Alliance   (United States)

^d UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^e DUKE UNIVERSITY   (United States)

^f NORTH CAROLINA CENTRAL UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA BASE; RHO KINASE; APOPTOSIS REGULATORY PROTEIN; CARRIER PROTEIN; CCM2 PROTEIN, HUMAN; KRIT1 PROTEIN, HUMAN; MEMBRANE PROTEIN; MICROTUBULE ASSOCIATED PROTEIN; ONCOPROTEIN; PDCD10 PROTEIN, HUMAN;

AMPLICON; ARTICLE; BIALLELIC SOMATIC MUTATION; CAVERNOUS HEMANGIOMA; CCM2 GENE; DNA EXTRACTION; ENDOTHELIUM CELL; GENE; GENE AMPLIFICATION; GENE FREQUENCY; GENE SEQUENCE; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; INDEL MUTATION; KRIT1 GENE; LEFT HEMISPHERE; MUTATION RATE; NUCLEAR MAGNETIC RESONANCE IMAGING; PDCD10 GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; SPORADIC CEREBRAL CAVERNOUS MALFORMATION; STOP CODON; VASCULAR LESION; AUTOSOMAL DOMINANT INHERITANCE; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; ENZYME ACTIVATION; GERMLINE MUTATION; HEMISPHERE; MOSAICISM; NEXT GENERATION SEQUENCING; PATHOGENESIS; BRAIN HEMANGIOMA; CENTRAL NERVOUS SYSTEM TUMOR; GENETICS; METABOLISM; MUTATION; PATHOLOGY;

APOPTOSIS REGULATORY PROTEINS; CARRIER PROTEINS; CENTRAL NERVOUS SYSTEM NEOPLASMS; ENDOTHELIAL CELLS; HEMANGIOMA, CAVERNOUS, CENTRAL NERVOUS SYSTEM; HUMANS; MEMBRANE PROTEINS; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; PROTO-ONCOGENE PROTEINS; RHO-ASSOCIATED KINASES;

EID: 84904747360     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu153     Document Type: Article

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