A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing

European Journal of Endocrinology

Volumn 164, Issue 5, 2011, Pages 705-713

  Vivenza, Daniela ^a   Godi, Michela ^b   Faienza, Maria Felicia ^c   Mellone, Simona ^b   Moia, Stefania ^d   Rapa, Anna ^d   Petri, Antonella ^d   Bellone, Simonetta ^d   Riccomagno, Stefania ^d   Cavallo, Luciano ^c   Giordano, Mara ^b   Bona, Gianni ^d  

^a S CROCE E CARLE HOSPITAL   (Italy)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d MAGGIORE DELLA CARITÀ HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HYPOPHYSIS HORMONE; MESSENGER RNA; TRANSCRIPTION FACTOR HESX1; HESX1 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; ALANINE; GLYCINE;

ADOLESCENT; ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BODY HEIGHT; BONE AGE; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DOWN REGULATION; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GROWTH HORMONE DEFICIENCY; HETEROZYGOSITY; HORMONE DEFICIENCY; HORMONE DETERMINATION; HUMAN; IN VITRO STUDY; IN VIVO STUDY; INTRON; MAJOR CLINICAL STUDY; MALE; NONSENSE MEDIATED MRNA DECAY; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SECONDARY STRUCTURE; RNA PROCESSING; RNA SPLICING; SCHOOL CHILD; ALLELE; ANIMAL; CHO CELL; COMPARATIVE STUDY; CRICETULUS; GENETICS; HAMSTER; INFANT; METABOLISM; PITUITARY DWARFISM; ANIMAL CELL; CLINICAL FEATURE; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HESX1 GENE; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; NONHUMAN; PROMOTER REGION; RNA INTERFERENCE;

ADOLESCENT; ALLELES; ALTERNATIVE SPLICING; ANIMALS; CHILD; CHILD, PRESCHOOL; CHO CELLS; CRICETINAE; CRICETULUS; DWARFISM, PITUITARY; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA, MESSENGER; YOUNG ADULT;

EID: 79955536923     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0047     Document Type: Article

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