BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

Genome Research

Volumn 25, Issue 2, 2015, Pages 155-166

  Borck, Guntram ^a   Hög, Friederike ^b   Dentici, Maria Lisa ^c   Tan, Perciliz L ^d   Sowada, Nadine ^a   Medeira, Ana ^e   Gueneau, Lucie ^f   Thiele, Holger ^g   Kousi, Maria ^d   Lepri, Francesca ^c   Wenzeck, Larissa ^b   Blumenthal, Ian ^h   Radicioni, Antonio ⁱ   Schwarzenberg, Tito Livio ⁱ   Mandriani, Barbara ^j,k   Fischetto, Rita ^l   Morris Rosendahl, Deborah J ^m   Altmüller, Janine ^g,n   Reymond, Alexandre ^f   Nürnberg, Peter ^g,n   Merla, Giuseppe ^j   Dallapiccola, Bruno ^c   Katsanis, Nicholas ^d   Cramer, Patrick ^o   Kubisch, Christian ^a,p   more..

^a UNIVERSITY OF ULM   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d DUKE UNIVERSITY   (United States)

^e HOSPITAL DE SANTA MARIA   (Portugal)

^f UNIVERSITY OF LAUSANNE   (Switzerland)

^g UNIVERSITY OF COLOGNE   (Germany)

^h Massach usetts General Hospital   (United States)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

^j CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^k UNIVERSITY OF BRESCIA   (Italy)

^l POLICLINICO   (Italy)

^m NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

ⁿ UNIVERSITY OF COLOGNE   (Germany)

^o MAX PLANCK INSTITUTE FOR BIOPHYSICAL CHEMISTRY   (Germany)

^p UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED RNA POLYMERASE III; TRANSCRIPTION FACTOR IIIB; TRANSFER RNA; BRF1 PROTEIN, HUMAN; ISOPROTEIN; TATA BINDING PROTEIN ASSOCIATED FACTOR;

ALLELE; ANIMAL EXPERIMENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; BRAIN STEM; BRF1 GENE; CELL GROWTH; CEREBELLUM; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL ARTICLE; COGNITIVE DEVELOPMENT; CONTROLLED STUDY; CRISPR CAS SYSTEM; DEVELOPMENTAL DISORDER; EMBRYO; EXOME; FACE DYSMORPHIA; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC COMPLEMENTATION; GENETIC CONSERVATION; GENOME ANALYSIS; HUMAN; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MISSENSE MUTATION; NERVOUS SYSTEM DEVELOPMENT; NEUROLOGIC DISEASE; NEWBORN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; ORTHOLOGY; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SACCHAROMYCES CEREVISIAE; SCHOOL CHILD; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; TOOTH MALFORMATION; TRANSCRIPTION REGULATION; ZEBRA FISH; ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL; BRAIN; CELL PROLIFERATION; CHEMICAL STRUCTURE; CHEMISTRY; FACIES; GENETIC TRANSCRIPTION; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; INTELLECTUAL DISABILITY; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PROTEIN CONFORMATION; SIBLING; SYNDROME;

DANIO RERIO; SACCHAROMYCES CEREVISIAE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BRAIN; CELL PROLIFERATION; CHILD; CHILD, PRESCHOOL; EXOME; FACIES; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN ISOFORMS; RNA POLYMERASE III; SIBLINGS; SYNDROME; TATA-BINDING PROTEIN ASSOCIATED FACTORS; TRANSCRIPTION, GENETIC; ZEBRAFISH;

EID: 84922357897     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.176925.114     Document Type: Article

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