A heterozygous mutation of the insulin-like growth factor-I receptor causes retention of the nascent protein in the endoplasmic reticulum and results in intrauterine and postnatal growth retardation

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 5, 2010, Pages 2316-2324

  Wallborn, Tillmann ^a   Wüller, Stefan ^b   Klammt, Jürgen ^a   Kruis, Tassilo ^a   Kratzsch, Jürgen ^c   Schmidt, Gabriele ^d   Schlicke, Marina ^a   Müller, Eva ^a   Van De Leur, Hildegard Schmitz ^b   Kiess, Wieland ^a   Pfäffle, Roland ^a  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c UNIVERSITY OF LEIPZIG   (Germany)

^d Klinikum Garmisch Partenkirchen   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CELL PROTEIN; CELL SURFACE RECEPTOR; GLUTAMIC ACID; MUTANT PROTEIN; NASCENT PROTEIN; RECOMBINANT GROWTH HORMONE; SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR; UNCLASSIFIED DRUG; VALINE; SOMATOMEDIN BINDING PROTEIN 3;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CATCH UP GROWTH; CELL SURFACE; CHILD; CLINICAL EXAMINATION; COGNITIVE DEVELOPMENT; CONFOCAL LASER MICROSCOPY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA SCREENING; DNA SEQUENCE; ENDOPLASMIC RETICULUM; FAMILY HISTORY; FEMALE; FLOW CYTOMETRY; GROWTH RATE; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; MICROCEPHALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; POSTNATAL GROWTH; POSTNATAL GROWTH RETARDATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; RECEPTOR GENE; SCHOOL CHILD; SIGNAL TRANSDUCTION; BODY SIZE; COGNITIVE DEFECT; EXON; GENETICS; GROWTH DISORDER; HETEROZYGOTE; MENTAL DEFICIENCY; METABOLISM; NEWBORN; POLYMERASE CHAIN REACTION;

AMINO ACID SUBSTITUTION; BIRTH WEIGHT; BODY SIZE; COGNITION DISORDERS; ENDOPLASMIC RETICULUM; EXONS; FEMALE; FETAL GROWTH RETARDATION; GLUTAMIC ACID; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; INSULIN-LIKE GROWTH FACTOR I; MENTAL RETARDATION; MICROCEPHALY; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; RECEPTOR, IGF TYPE 1; VALINE;

EID: 77952755454     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-2404     Document Type: Article

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