ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH

Pharmacogenetics and Genomics

Volumn 20, Issue 2, 2010, Pages 71-76

  Ding, Ying Xue ^a,b   Zou, Li Ping ^a,b   He, Bing ^e   Yue, Wei Hua ^c,d   Liu, Zhan Li ^a   Zhang, Dai ^c,d  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b CAPITAL MEDICAL UNIVERSITY   (China)

^c PEKING UNIVERSITY SIXTH HOSPITAL   (China)

^d BEIJING HOSPITAL   (China)

^e KAROLINSKA INSTITUTE   (Sweden)

Author keywords

Adrenocorticotropin hormone; Infantile spasms; Melanocortin 2 receptor promoter variants; Responsiveness

Indexed keywords

COMPLEMENTARY DNA; CORTICOTROPIN RECEPTOR; CYSTEINE; LUCIFERASE; THREONINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EMBRYO; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; IN VITRO STUDY; INFANTILE SPASM; MODULATION; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE ANALYSIS; RAT; REAL TIME POLYMERASE CHAIN REACTION;

ADRENOCORTICOTROPIC HORMONE; ANIMALS; CELL LINE; CLONING, MOLECULAR; DNA, COMPLEMENTARY; GENE EXPRESSION REGULATION; HUMANS; INFANT, NEWBORN; LUCIFERASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RATS; RECEPTOR, MELANOCORTIN, TYPE 2; RNA, MESSENGER; SPASMS, INFANTILE; TRANSCRIPTION, GENETIC; TRANSFECTION;

RATTUS;

EID: 75649107581     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e328333a172     Document Type: Article

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