Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

EMBO Molecular Medicine

Volumn 6, Issue 3, 2014, Pages 299-306

  Argente, Jesús ^a,b,c   Flores, Raquel ^d,e,f   Gutiérrez Arumí, Armand ^d,e,f   Verma, Bhupendra ^g   Martos Moreno, Gabriel Á ^a,b,c   Cuscó, Ivon ^d,e,f   Oghabian, Ali ^g   Chowen, Julie A ^a,b,c   Frilander, Mikko J ^g   Pérez Jurado, Luis A ^d,e,f  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^b Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas   (Spain)

^c Instituto de Salud Carlos III   (Spain)

^d UNIVERSITAT POMPEU FABRA   (Spain)

^e HOSPITAL DEL MAR   (Spain)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^g UNIVERSITY OF HELSINKI   (Finland)

Author keywords

mRNA splicing; Pituitary hypoplasia; U12 type introns

Indexed keywords

ACTIN RELATED PROTEIN 2-3 COMPLEX; GHRELIN; GROWTH HORMONE; HYPOPHYSIS HORMONE; MESSENGER RNA; PROLACTIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SMALL NUCLEAR RNA; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

ACYLATION; ARTICLE; BONE DYSPLASIA; CASE REPORT; EXOME; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE SECRETING CELL; GROWTH RETARDATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; INTRON; INTRON RETENTION; LYMPHOBLASTOID CELL; MICROCEPHALY; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; PROTEIN PROCESSING; RNA PROCESSING; SPLICEOSOME; SPLICING DEFECT; THYROID DYSGENESIS; TISSUE SPECIFICITY;

ACTIN-RELATED PROTEIN 2-3 COMPLEX; ADOLESCENT; AMINO ACID SEQUENCE; BRAIN; CHILD; CODON, NONSENSE; DWARFISM, PITUITARY; FEMALE; HUMANS; INTRONS; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEAR PROTEINS; PHENOTYPE; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA SPLICING; RNA, MESSENGER; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84896731199     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.1002/emmm.201303573     Document Type: Article

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