A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2106-2118

  Gripp, Karen W ^a   Bifeld, Eugenia ^b   Stabley, Deborah L ^a   Hopkins, Elizabeth ^a   Meien, Stefanie ^b   Vinette, Kathy ^a   Sol Church, Katia ^a   Rosenberger, Georg ^b  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Costello syndrome; Functional variability; HRAS germline mutation; Phenotypic variability; RAS pathway disorder; RASopathy

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE B; RAS PROTEIN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CESAREAN SECTION; COMPARATIVE GENOMIC HYBRIDIZATION; CONVERGENT STRABISMUS; COSTELLO SYNDROME; DANDY WALKER SYNDROME; ENZYME PHOSPHORYLATION; FATHER; FEEDING DISORDER; FEMALE; FETUS HYDROPS; GENE MUTATION; GENETIC ASSOCIATION; GERMLINE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDRAMNIOS; HYDRONEPHROSIS; HYPERBILIRUBINEMIA; HYPERMETROPIA; HYPOGLYCEMIA; INFANT; KIDNEY CYST; MALE; MISSENSE MUTATION; MOTOR RETARDATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE H RAS; PERINATAL PERIOD; PHENOTYPIC VARIATION; PHYSIOTHERAPY; PLEURA EFFUSION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECTUM BIOPSY; SIBLING; SIGNAL TRANSDUCTION; SPECTACLES;

AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; EPIDERMAL GROWTH FACTOR; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MAP KINASE SIGNALING SYSTEM; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PROTO-ONCOGENE PROTEINS P21(RAS); SEQUENCE HOMOLOGY, AMINO ACID; SIGNAL TRANSDUCTION;

EID: 84865540065     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35449     Document Type: Article

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