Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans

Proceedings of the National Academy of Sciences of the United States of America

Volumn 113, Issue 31, 2016, Pages 8759-8764

  Leea, Vivian S ^a   Halabi, Carmen M ^a   Hoffman, Erin P ^b   Carmichael, Nikkola ^b,c   Leshchiner, Ignaty ^b,c   Lian, Christine G ^b,c   Bierhals, Andrew J ^b   Vuzman, Dana ^b,c   Medicine, Brigham Genomic ^a   Mecham, Robert P ^a   Frank, Natasha Y ^b,c,d   Stitziel, Nathan O ^a,e  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e VA BOSTON HEALTHCARE SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEATS-ASSOCIATED PROTEIN 9; COLLAGEN; CRISPR ASSOCIATED PROTEIN; ELASTIN; FIBRILLIN 1; PROTEIN LYSINE 6 OXIDASE; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 1; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2; UNCLASSIFIED DRUG;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; AORTA DISSECTION; AORTA WALL; AORTIC ROOT SURGERY; BLEEDING; CASE REPORT; CLUSTERED REGULARLY INTERSPACED SHORT PALINDROMIC REPEAT; CONFERENCE PAPER; CONTROLLED STUDY; ELASTIC FIBER; ENZYME ACTIVITY; GENE FREQUENCY; GENE SEQUENCE; GENETIC ENGINEERING; GENETIC SCREENING; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; PATIENT CARE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; THORACIC AORTA ANEURYSM; THORACIC AORTIC ANEURYSM AND DISSECTION; AGED; ANIMAL; C57BL MOUSE; DISSECTING ANEURYSM; DNA MUTATIONAL ANALYSIS; ENZYMOLOGY; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION; GENETICS; KNOCKOUT MOUSE; METABOLISM; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PEDIGREE; PROCEDURES;

ADULT; AGED; ANEURYSM, DISSECTING; ANIMALS; AORTIC ANEURYSM, THORACIC; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOSS OF FUNCTION MUTATION; MALE; MICE, INBRED C57BL; MICE, KNOCKOUT; MIDDLE AGED; PEDIGREE; PROTEIN-LYSINE 6-OXIDASE;

EID: 84982705733     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1601442113     Document Type: Article

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