Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

European Journal of Human Genetics

Volumn 18, Issue 6, 2010, Pages 733-736

  Farooq, Muhammad ^a   Troelsen, Jesper T ^b   Boyd, Mette ^b   Eiberg, Hans ^b   Hansen, Lars ^b   Hussain, Muhammad Sajid ^a   Rehman, Shoaib Ur ^a   Azhar, Aysha ^a   Ali, Amjad ^a   Bakhtiar, Syeda Marriam ^a   Tommerup, Niels ^b   Baig, Shahid Mahmood ^a   Kjaer, Klaus W ^b  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Point mutation; Preaxial polydactyly; Regulatory element; SHH regulatory sequence; Triphalangeal thumb

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ARTICLE; BINDING AFFINITY; CELL STRAIN CACO 2; CLINICAL ARTICLE; CONTROLLED STUDY; GEL MOBILITY SHIFT ASSAY; GENE EXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; LIMB DEVELOPMENT; MOLECULAR PROBE; MUTANT; PAKISTAN; POINT MUTATION; POLYDACTYLY; PREAXIAL POLYDACTYLY; PRIORITY JOURNAL; REGULATORY SEQUENCE; TRIPHALANGEAL THUMB; WILD TYPE; ZONE OF POLARIZING ACTIVITY REGULATORY SEQUENCE;

BASE SEQUENCE; CACO-2 CELLS; FAMILY; HUMANS; MEMBRANE PROTEINS; PEDIGREE; POINT MUTATION; POLYDACTYLY; PROTEIN BINDING; REGULATORY ELEMENTS, TRANSCRIPTIONAL; SUBSTRATE SPECIFICITY; THUMB; TRANSCRIPTION FACTORS;

ERINACEIDAE;

EID: 77952675541     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.225     Document Type: Article

References (12)

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