Increased Protein Stability of CDKN1C Causes a Gain-of-Function Phenotype in Patients with IMAGe Syndrome

PLoS ONE

Volumn 8, Issue 9, 2013, Pages

  Hamajima, Naoki ^a   Johmura, Yoshikazu ^b   Suzuki, Satoshi ^a   Nakanishi, Makoto ^b   Saitoh, Shinji ^b  

^a Nagoya City University West Medical Center   (Japan)

^b NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ASPARTIC ACID; BENZYLOXYCARBONYLLEUCYLLEUCYLLEUCINAL; CYCLIN DEPENDENT KINASE INHIBITOR 1C; CYCLINE; CYCLOHEXIMIDE; GUANINE; PHENYLALANINE; PROTEASOME; PROTEASOME INHIBITOR; THYMINE; VALINE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CDKNC1 GENE; CHILD; CONGENITAL MALFORMATION; FEMALE; GAIN OF FUNCTION MUTATION; GENE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IMAGE SYNDROME; MALE; MOTHER; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PROTEIN BINDING; PROTEIN STABILITY; SCHOOL CHILD; SIBLING; SYMPTOM;

ADRENAL INSUFFICIENCY; BASE SEQUENCE; BLOTTING, WESTERN; CYCLIN-DEPENDENT KINASE INHIBITOR P57; CYCLOHEXIMIDE; EXOME; FEMALE; FETAL GROWTH RETARDATION; FLOW CYTOMETRY; GENE COMPONENTS; HUMANS; LEUPEPTINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; PROLIFERATING CELL NUCLEAR ANTIGEN; PROTEIN STABILITY; SEQUENCE ANALYSIS, DNA; SIBLINGS; UROGENITAL ABNORMALITIES;

EID: 84884766161     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0075137     Document Type: Article

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