BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Journal of Clinical Investigation

Volumn 125, Issue 6, 2015, Pages 2363-2368

  Basak, Anindita ^a,b,c   Hancarova, Miroslava ^d   Ulirsch, Jacob C ^a,b,c   Balci, Tugce B ^e   Trkova, Marie ^f   Pelisek, Michal ^g   Vlckova, Marketa ^d   Muzikova, Katerina ^d   Cermak, Jaroslav ^h   Trka, Jan ^d   Dyment, David A ^e   Orkin, Stuart H ^a   Daly, Mark J ^c,i   Sedlacek, Zdenek ^d   Sankaran, Vijay G ^a,b,c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^e CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^f Gennet   (Czech Republic)

^g Hospital in Strakonice   (Czech Republic)

^h INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

ⁱ MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BCL11A PROTEIN; HEMOGLOBIN F; MICRORNA; MICRORNA 4432; PAPOLG PROTEIN; PROTEIN; UNCLASSIFIED DRUG; BCL11A PROTEIN, HUMAN; CARRIER PROTEIN; NUCLEAR PROTEIN;

AGGRESSION; ALLELE; ARTICLE; AUTISM; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CASE REPORT; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE SILENCING; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HEMATOLOGICAL PARAMETERS; HUMAN; HYPERACTIVITY; IMMUNOLOGICAL PARAMETERS; IN VIVO STUDY; INTRON; MOTOR COORDINATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NERVE CELL DIFFERENTIATION; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTERIOR FOSSA; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SEQUENCE; SCHIZOPHRENIA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; BIOSYNTHESIS; CLINICAL TRIAL; GENE EXPRESSION REGULATION; GENETICS; INFANT; MALE; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY;

ADULT; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; FETAL HEMOGLOBIN; GENE EXPRESSION REGULATION; HUMANS; INFANT; INTRONS; MALE; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA; SEQUENCE DELETION;

EID: 84930409554     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI81163     Document Type: Article

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