Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

American Journal of Human Genetics

Volumn 99, Issue 2, 2016, Pages 392-406

  Wade, Emma M ^a   Daniel, Philip B ^a   Jenkins, Zandra A ^a   McInerney Leo, Aideen ^b   Leo, Paul ^b   Morgan, Tim ^a   Addor, Marie Claude ^c   Adès, Lesley C ^d   Bertola, Debora ^e   Bohring, Axel ^f   Carter, Erin ^g   Cho, Tae Joon ^h   Duba, Hans Christoph ⁱ   Fletcher, Elaine ^j   Kim, Chong A ^e   Krakow, Deborah ^k   Morava, Eva ^l   Neuhann, Teresa ^m   Superti Furga, Andrea ⁿ   Veenstra Knol, Irma ^o   Wieczorek, Dagmar ^p   Wilson, Louise C ^q   Hennekam, Raoul C M ^r   Sutherland Smith, Andrew J ^s   Strom, Tim M ^t   Wilkie, Andrew O M ^u   Brown, Matthew A ^b   Duncan, Emma L ^b   Markie, David M ^a   Robertson, Stephen P ^a   more..

^a UNIVERSITY OF OTAGO   (New Zealand)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d UNIVERSITY OF SYDNEY   (Australia)

^e UNIVERSITY OF SÃO PAULO   (Brazil)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^g HOSPITAL FOR SPECIAL SURGERY   (United States)

^h Seoul National University Children's Hospital   (South Korea)

ⁱ KEPLER UNIVERSITY HOSPITAL   (Austria)

^j WESTERN GENERAL HOSPITAL   (United Kingdom)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^m MGZ   (Germany)

ⁿ UNIVERSITY OF LAUSANNE   (Switzerland)

^o UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^p HEINRICH HEINE UNIVERSITY   (Germany)

^q GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^r UNIVERSITY OF AMSTERDAM   (Netherlands)

^s MASSEY UNIVERSITY   (New Zealand)

^t INSTITUTE OF EPIDEMIOLOGY   (Germany)

^u UNIVERSITY OF OXFORD   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA ACTIVATED KINASE 1; FILAMIN; FLNA PROTEIN, HUMAN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MAP KINASE KINASE KINASE 7; MITOGEN ACTIVATED PROTEIN KINASE KINASE KINASE; PROTEIN BINDING; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TAB2 PROTEIN, HUMAN;

ARTICLE; AUTOPHOSPHORYLATION; BONE DYSPLASIA; CLEFT PALATE; CLINICAL ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; FEMALE; FINGER MALFORMATION; FRONTOMETAPHYSEAL DYSPLASIA; GAIN OF FUNCTION MUTATION; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HEK293 CELL LINE; HUMAN; HUMAN CELL; HYDRONEPHROSIS; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; JOINT CONTRACTURE; KELOID; MALE; MAP3K7 GENE; MISSENSE MUTATION; NOSE MALFORMATION; PALPEBRAL FISSURE ANOMALY; PATERNAL AGE; PRIORITY JOURNAL; PROTEIN DOMAIN; SCOLIOSIS; SIGNAL TRANSDUCTION; SKIN FIBROBLAST; STRIDOR; SUBGLOTTIC STENOSIS; SYNOSTOSIS; TAB2 GENE; ABNORMALITIES; CHONDRODYSPLASIA; FOREHEAD; GENETICS; METABOLISM; MUTATION; PHOSPHORYLATION; PROTEIN MULTIMERIZATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; FEMALE; FILAMINS; FOREHEAD; HUMANS; MALE; MAP KINASE KINASE KINASES; MAP KINASE SIGNALING SYSTEM; MUTATION; NF-KAPPA B; OSTEOCHONDRODYSPLASIAS; PHOSPHORYLATION; PROTEIN BINDING; PROTEIN MULTIMERIZATION; SIGNAL TRANSDUCTION;

EID: 84978880739     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.05.024     Document Type: Article

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