Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Neuromuscular Disorders

Volumn 24, Issue 7, 2014, Pages 624-633

  Kayman Kurekci, Gulsum ^a   Talim, Beril ^a   Korkusuz, Petek ^a   Sayar, Nilufer ^b   Sarioglu, Turkan ^c   Oncel, Ibrahim ^a   Sharafi, Parisa ^a   Gundesli, Hulya ^a,d   Balci Hayta, Burcu ^a   Purali, Nuhan ^a   Serdaroglu Oflazer, Piraye ^c   Topaloglu, Haluk ^a   Dincer, Pervin ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b BILKENT UNIVERSITY   (Turkey)

^c ISTANBUL UNIVERSITY   (Turkey)

^d UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

Author keywords

LAP1; Muscular dystrophy; Myopathy; TOR1AIP1

Indexed keywords

LAMIN A; LAMIN B; LAMINA ASSOCIATED POLYPEPTIDE 1B; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; LAP1B PROTEIN, HUMAN; MESSENGER RNA; NUCLEAR PROTEIN; TOR1AIP2 PROTEIN, HUMAN;

ARTICLE; BINDING AFFINITY; BINDING SITE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; ECHOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MALE; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCULAR DYSTROPHY; NUCLEAR ENVELOPATHY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN BINDING; PROTEIN DETERMINATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; STOP CODON; TORSIN A INTERACTING PROTEIN 1 GENE; TRANSMISSION ELECTRON MICROSCOPY; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CELL NUCLEUS MEMBRANE; FAMILY; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SARCOMERE; SKELETAL MUSCLE; ULTRASTRUCTURE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; FRAMESHIFT MUTATION; HUMANS; MALE; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON, TRANSMISSION; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS, SKELETAL; MUSCULAR DYSTROPHIES; NUCLEAR ENVELOPE; NUCLEAR PROTEINS; PEDIGREE; RNA, MESSENGER; SARCOMERES;

EID: 84902003090     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2014.04.007     Document Type: Article

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