Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Journal of Clinical Investigation

Volumn 125, Issue 2, 2015, Pages 636-651

  Yuan, Bo ^a   Pehlivan, Davut ^a   Karaca, Ender ^a   Patel, Nisha ^b   Charng, Wu Lin ^a   Gambin, Tomasz ^a   Gonzaga Jauregui, Claudia ^a   Sutton, V Reid ^a   Yesil, Gozde ^c   Bozdogan, Sevcan Tug ^d   Tos, Tulay ^e   Koparir, Asuman ^f   Koparir, Erkan ^g   Beck, Christine R ^a   Gu, Shen ^a   Aslan, Huseyin ^h   Yuregir, Ozge Ozalp ^h   Rubeaan, Khalid Al ⁱ   Alnaqeb, Dhekra ⁱ   Alshammari, Muneera J ^j   Bayram, Yavuz ^a   Atik, Mehmed M ^a   Aydin, Hatip ^k   Geckinli, B Bilge ^l   Seven, Mehmet ^f   Ulucan, Hakan ^f   Fenercioglu, Elif ^f   Ozen, Mustafa ^f   Jhangiani, Shalini ^m   Muzny, Donna M ^m   Boerwinkle, Eric ^m,n   Tuysuz, Beyhan ^f   Alkuraya, Fowzan S ^b,o   Gibbs, Richard A ^a,m   Lupski, James R ^a,m,p   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^d MERSIN UNIVERSITY   (Turkey)

^e Dr Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases   (Turkey)

^f ISTANBUL UNIVERSITY   (Turkey)

^g Kanuni Sultan Suleyman Training and Research Hospital   (Turkey)

^h Adana Numune Education and Training Hospital   (Turkey)

ⁱ University Diabetes Center   (United States)

^j KING SAUD UNIVERSITY   (Saudi Arabia)

^k Zeynep Kamil Maternity and Child Research and Training Hospital   (Turkey)

^l MARMARA UNIVERSITY   (Turkey)

^m BCM   (United States)

ⁿ UNIVERSITY OF TEXAS   (United States)

^o ALFAISAL UNIVERSITY   (Saudi Arabia)

^p TEXAS CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LYSINE SPECIFIC METHYLTRANSFERASE 2A; METHYLTRANSFERASE; TRANSCRIPTOME; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; EXONUCLEASE; HDAC8 PROTEIN, HUMAN; HISTONE DEACETYLASE; HISTONE LYSINE METHYLTRANSFERASE; MIXED LINEAGE LEUKEMIA PROTEIN; MLL PROTEIN, HUMAN; NIPBL PROTEIN, HUMAN; NONHISTONE PROTEIN; PROTEIN; PROTEOCHONDROITIN SULFATE; RAD1 PROTEIN, HUMAN; REPRESSOR PROTEIN; SMC3 PROTEIN, HUMAN; STOP CODON; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL EVALUATION; DE LANGE SYNDROME; EXOME; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; HEMIZYGOTE; HUMAN; INFANT; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; POPULATION GENETICS; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SIBLING; TURK (PEOPLE); ADULT; BIOSYNTHESIS; CLINICAL TRIAL; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; METABOLISM; MULTICENTER STUDY; PATHOLOGY; STOP CODON;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CHONDROITIN SULFATE PROTEOGLYCANS; CHROMOSOMAL PROTEINS, NON-HISTONE; CODON, NONSENSE; DE LANGE SYNDROME; EXOME; EXONUCLEASES; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENOME-WIDE ASSOCIATION STUDY; HETEROZYGOTE; HISTONE DEACETYLASES; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; INFANT; MALE; MYELOID-LYMPHOID LEUKEMIA PROTEIN; PHENOTYPE; PROTEINS; REPRESSOR PROTEINS; TRANSCRIPTOME;

EID: 84961290013     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI77435     Document Type: Article

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