A specific mutation in TBL1XR1 causes Pierpont syndrome

Journal of Medical Genetics

Volumn 53, Issue 5, 2016, Pages 330-337

  Heinen, Charlotte A ^a   Jongejan, Aldo ^a   Watson, Peter J ^b   Redeker, Bert ^a   Boelen, Anita ^a   Boudzovitch Surovtseva, Olga ^a   Forzano, Francesca ^c   Hordijk, Roel ^d   Kelley, Richard ^e   Olney, Ann H ^f   Pierpont, Mary Ella ^g   Schaefer, G Bradley ^h   Stewart, Fiona ⁱ   Van Trotsenburg, A S Paul ^a   Fliers, Eric ^a   Schwabe, John W R ^b   Hennekam, Raoul C ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY OF LEICESTER   (United Kingdom)

^c GALLIERA HOSPITAL   (Italy)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e JOHNS HOPKINS UNIVERSITY   (United States)

^f UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^g UNIVERSITY OF MINNESOTA   (United States)

^h ARKANSAS CHILDREN S HOSPITAL   (United States)

ⁱ BELFAST CITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA TRANSDUCIN REPEAT CONTAINING PROTEIN; MESSENGER RNA; NUCLEAR RECEPTOR COREPRESSOR; PROTEIN VARIANT; SILENCING MEDIATOR OF RETINOID AND THYROID HORMONE RECEPTOR; TRANSDUCIN BETA LIKE 1 X LINKED RECEPTOR 1; UNCLASSIFIED DRUG; CELL RECEPTOR; NCOR1 PROTEIN, HUMAN; NUCLEAR PROTEIN; RECEPTOR INTERACTING PROTEIN 140; REPRESSOR PROTEIN; TBL1XR1 PROTEIN, HUMAN;

ADIPOSE TISSUE; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTISM; AUTOPSY; BRAIN TISSUE; BROWN ADIPOSE TISSUE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EXOME; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GERMLINE MUTATION; HEK293 CELL LINE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPHYSIS; HYPOTHALAMUS; LIVER; LOSS OF FUNCTION MUTATION; LYMPHOCYTE; MALE; MALFORMATION SYNDROME; MISSENSE MUTATION; MUSCLE; MUTATIONAL ANALYSIS; PIERPONT SYNDROME; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SANGER SEQUENCING; SCHOOL CHILD; TBL1XR1 GENE; WILD TYPE; YOUNG ADULT; ANTIBODY SPECIFICITY; CHEMISTRY; DNA MUTATIONAL ANALYSIS; FACIES; GENETICS; LIPOMATOSIS; METABOLISM; MOLECULAR MODEL; PATHOLOGY; PROTEIN TERTIARY STRUCTURE;

ADULT; CHILD; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENE EXPRESSION; HUMANS; LIPOMATOSIS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; NUCLEAR PROTEINS; NUCLEAR RECEPTOR CO-REPRESSOR 1; ORGAN SPECIFICITY; PROTEIN STRUCTURE, TERTIARY; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REPRESSOR PROTEINS; YOUNG ADULT;

EID: 84957921471     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103233     Document Type: Article

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