Mutational probing of the forkhead domain of the transcription factor FOXL2 provides insights into the pathogenicity of naturally occurring mutations

Human Molecular Genetics

Volumn 20, Issue 17, 2011, Pages 3376-3385

  Todeschini, Anne Laure ^a,b   Dipietromaria, Aurélie ^a,b   L'Hôte, David ^a,b   Boucham, Fatima Zohra ^a   Georges, Adrien B ^a,b,c   Pandaranayaka, P J Eswari ^e   Krishnaswamy, Sankaran ^e   Rivals, Isabelle ^d   Bazin, Claude ^a,b   Veitia, Reiner A ^a,b  

^a INSTITUT JACQUES MONOD   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ECOLE NORMALE SUPÉRIEURE   (France)

^d PSL RESEARCH UNIVERSITY   (France)

^e MADURAI KAMARAJ UNIVERSITY   (India)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FORKHEAD TRANSCRIPTION FACTOR; GLYCINE; GREEN FLUORESCENT PROTEIN; PLASMID DNA; TRANSCRIPTION FACTOR FOXL 2; UNCLASSIFIED DRUG;

ALPHA HELIX; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CONTROLLED STUDY; CORRELATION ANALYSIS; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MALFORMATION SYNDROME; MISSENSE MUTATION; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENICITY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; STRUCTURE ACTIVITY RELATION; TRANSACTIVATION;

ANIMALS; CELL LINE; CERCOPITHECUS AETHIOPS; COS CELLS; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; MUTATION; PROTEIN STRUCTURE, TERTIARY; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 80051700259     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr244     Document Type: Article

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