A rare myelin protein zero (MPZ) variant alters enhancer activity in Vitro and in Vivo

PLoS ONE

Volumn 5, Issue 12, 2010, Pages

  Antonellis, Anthony ^a   Dennis, Megan Y ^b   Burzynski, Grzegorz ^c   Huynh, Jimmy ^c   Maduro, Valerie ^b   Hodonsky, Chani J ^a   Khajavi, Mehrdad ^d   Szigeti, Kinga ^d   Mukkamala, Sandeep ^b   Bessling, Seneca L ^c   Pavan, William J ^b   McCallion, Andrew S ^c   Lupski, James R ^d,e,f   Green, Eric D ^b  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Department of Molecular and Human Genetics ^*  (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EARLY GROWTH RESPONSE FACTOR 2; GENOMIC DNA; MYELIN PROTEIN; MYELIN PROTEIN ZERO; NUCLEAR PROTEIN; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG; SOX10 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX;

ANIMAL CELL; ARTICLE; BINDING SITE; CONTROLLED STUDY; DNA SEQUENCE; EMBRYO; ENHANCER REGION; GENE EXPRESSION; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; HUMAN VERSUS ANIMAL COMPARISON; IN VITRO STUDY; IN VIVO STUDY; INTRON; MOUSE; NEUROPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN VARIANT; RAT; REPORTER GENE; SEQUENCE ANALYSIS; SPECIES COMPARISON; TRANSCRIPTION REGULATION; ZEBRA FISH; ANIMAL; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MUTATION; SPECIES DIFFERENCE;

DANIO RERIO;

ANIMALS; BINDING SITES; ENHANCER ELEMENTS, GENETIC; GENE EXPRESSION REGULATION; GENETIC VARIATION; HUMANS; MICE; MUTATION; MYELIN P0 PROTEIN; RATS; SEQUENCE ANALYSIS, DNA; SOXE TRANSCRIPTION FACTORS; SPECIES SPECIFICITY; TRANSCRIPTION FACTORS; ZEBRAFISH;

EID: 78650735250     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0014346     Document Type: Article

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