Congenital thyrotropin deficiency - From discovery to molecular biology, postgenome and preventive medicine

被引:16
作者
Miyai, Kiyoshi [1 ]
机构
[1] Osaka Univ, Osaka, Japan
关键词
TSH deficiency; glycoprotein hormone deficiency; CXGXC motif; central congenital hypothyroidism; neonatal screening;
D O I
10.1507/endocrj.KR-107
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:191 / 203
页数:13
相关论文
共 82 条
[21]   Evolution of glycoprotein hormone subunit genes in bilateral metazoa: Identification of two novel human glycoprotein hormone subunit family genes, GPA2 and GPB5 [J].
Hsu, SY ;
Nakabayashi, K ;
Bhalla, A .
MOLECULAR ENDOCRINOLOGY, 2002, 16 (07) :1538-1551
[22]   ELEVATED PLASMA TSH AND HYPOTHYROIDISM IN CHILDREN WITH HYPOTHALAMIC HYPOPITUITARISM [J].
ILLIG, R ;
KRAWCZYNSKA, H ;
TORRESANI, T ;
PRADER, A .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1975, 41 (04) :722-728
[23]   A TISSUE-SPECIFIC TRANSCRIPTION FACTOR CONTAINING A HOMEODOMAIN SPECIFIES A PITUITARY PHENOTYPE [J].
INGRAHAM, HA ;
CHEN, R ;
MANGALAM, HJ ;
ELSHOLTZ, HP ;
FLYNN, SE ;
LIN, CR ;
SIMMONS, DM ;
SWANSON, L ;
ROSENFELD, MG .
CELL, 1988, 55 (03) :519-529
[24]  
IRIE M, 1975, LANCET, V2, P1233
[25]   Compound heterozygous and homozygous mutations of the TSHβ gene as a cause of congenital central hypothyroidism in Europe [J].
Karges, B ;
LeHeup, B ;
Schoenle, E ;
Castro-Correia, C ;
Fontoura, M ;
Pfäffle, R ;
Andler, W ;
Debatin, KM ;
Karges, W .
HORMONE RESEARCH, 2004, 62 (03) :149-155
[26]   ENZYME-IMMUNOASSAY OF THYROID-STIMULATING HORMONE USING DRIED BLOOD-SAMPLES - A SIMPLE TECHNIQUE OF SCREENING FOR CONGENITAL HYPOTHYROIDISM [J].
KATO, N ;
ISHII, S ;
NARUSE, H ;
IRIE, M ;
ARAKAWA, H ;
TSUJI, A .
ANALYTICAL LETTERS PART B-CLINICAL AND BIOCHEMICAL ANALYSIS, 1980, 13 (18) :1555-1565
[27]   LOSS OF BIOLOGICAL-ACTIVITY OF HUMAN CHORIONIC-GONADOTROPIN (HCG) BY THE AMINO-ACID SUBSTITUTION ON THE CMGCC REGION OF THE ALPHA-SUBUNIT [J].
KIKUCHI, T ;
KOYAMA, M ;
MIYAI, K ;
KIMURA, T ;
NISHIKIORI, N ;
KIMURA, T ;
AZUMA, C ;
KUSUNOKI, M ;
SAJI, F ;
TANIZAWA, O .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 1994, 102 (1-2) :1-7
[28]   Analysis of the three dimensional structure of the CXGXC motif in the CMGCC and CAGYC regions of α- and β-subunits of human chorionic gonadotropin:: Importance of glycine residue (G) in the motif [J].
Kinoshita, K ;
Kusunoki, M ;
Miyai, K .
ENDOCRINE JOURNAL, 2006, 53 (01) :51-58
[29]   CRYSTAL-STRUCTURE OF HUMAN CHORIONIC-GONADOTROPIN [J].
LAPTHORN, AJ ;
HARRIS, DC ;
LITTLEJOHN, A ;
LUSTBADER, JW ;
CANFIELD, RE ;
MACHIN, KJ ;
MORGAN, FJ ;
ISAACS, NW .
NATURE, 1994, 369 (6480) :455-461
[30]   DWARF LOCUS MUTANTS LACKING 3 PITUITARY CELL-TYPES RESULT FROM MUTATIONS IN THE POU-DOMAIN GENE PIT-1 [J].
LI, S ;
CRENSHAW, EB ;
RAWSON, EJ ;
SIMMONS, DM ;
SWANSON, LW ;
ROSENFELD, MG .
NATURE, 1990, 347 (6293) :528-533