In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Human Molecular Genetics

Volumn 18, Issue 16, 2009, Pages 3075-3089

  Morín, Matías ^a,b   Bryan, Keith E ^c   Mayo Merino, Fernando ^a,b   Goodyear, Richard ^d   Mencía, Ángeles ^a,b   Modamio Høybjør, Silvia ^a,b   Del Castillo, Ignacio ^a,b   Cabalka, Jessica M ^c   Richardson, Guy ^d   Moreno, Felipe ^a,b   Rubenstein, Peter A ^c   Moreno Pelayo, Miguel Ángel ^a,b  

^a HOSPITAL RAMÓN Y CAJAL   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITY OF SUSSEX   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COFILIN; F ACTIN; G ACTIN; GLYCEROL; MUTANT PROTEIN; TROPOMYOSIN;

ACTIN FILAMENT; ACTIN MYOSIN INTERACTION; ANIMAL CELL; ARTICLE; BIOLOGICAL ACTIVITY; CARBON SOURCE; CAUSAL ATTRIBUTION; CELL GROWTH; CELL STRAIN 3T3; CELL STRUCTURE; CELL VACUOLE; COCHLEA; CONTROLLED STUDY; CYTOPLASM; GENE EXPRESSION; GENE FUNCTION; GENE GUN; GENE MUTATION; HEARING LOSS; HUMAN; IN VITRO STUDY; IN VIVO STUDY; MAMMAL CELL; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; STEREOCILIUM; YEAST CELL;

ACTINS; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; CYTOSKELETON; HAIR CELLS, AUDITORY; HEARING LOSS; HUMANS; MICE; MOLECULAR CONFORMATION; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NIH 3T3 CELLS; PEDIGREE; YEASTS;

MAMMALIA;

EID: 68049104352     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp249     Document Type: Article

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