共 51 条
Molecular genetics of congenital hypothyroidism
被引:28
作者:

Macchia, PE
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Staz Zool Anton Dohrn, I-80121 Naples, Italy Staz Zool Anton Dohrn, I-80121 Naples, Italy

De Felice, M
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Staz Zool Anton Dohrn, I-80121 Naples, Italy Staz Zool Anton Dohrn, I-80121 Naples, Italy

Di Lauro, R
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机构:
Staz Zool Anton Dohrn, I-80121 Naples, Italy Staz Zool Anton Dohrn, I-80121 Naples, Italy
机构:
[1] Staz Zool Anton Dohrn, I-80121 Naples, Italy
关键词:
D O I:
10.1016/S0959-437X(99)80043-4
中图分类号:
Q2 [细胞生物学];
学科分类号:
071009 ;
090102 ;
摘要:
Congenital thyroid gland defects - resulting in reduced production of the hormones triiodothyronine (T3) and thyroxine (T4) - can be a consequence of either reduced or absent thyroid tissue (thyroid dysgenesis) or, less frequently, of impairment in the biochemical mechanisms responsible for hormone biosynthesis (thyroid dyshormonogenesis). Recent studies have revealed how mutations in the genes encoding either transcription factors or the thyroid stimulating hormone receptor cause, in humans or in mouse models, thyroid dysgenesis. This demonstrates, for the first time, the heritability of this condition. New genes responsible for thyroid dyshormonogenesis have also been discovered.
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页码:289 / 294
页数:6
相关论文
共 51 条
[1]
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
[J].
Abramowicz, MJ
;
Duprez, L
;
Parma, J
;
Vassart, G
;
Heinrichs, C
.
JOURNAL OF CLINICAL INVESTIGATION,
1997, 99 (12)
:3018-3024

Abramowicz, MJ
论文数: 0 引用数: 0
h-index: 0
机构: HOP UNIV ENFANTS REINE FABIOLA,DEPT PEDIAT,B-1020 BRUSSELS,BELGIUM

Duprez, L
论文数: 0 引用数: 0
h-index: 0
机构: HOP UNIV ENFANTS REINE FABIOLA,DEPT PEDIAT,B-1020 BRUSSELS,BELGIUM

Parma, J
论文数: 0 引用数: 0
h-index: 0
机构: HOP UNIV ENFANTS REINE FABIOLA,DEPT PEDIAT,B-1020 BRUSSELS,BELGIUM

Vassart, G
论文数: 0 引用数: 0
h-index: 0
机构: HOP UNIV ENFANTS REINE FABIOLA,DEPT PEDIAT,B-1020 BRUSSELS,BELGIUM

Heinrichs, C
论文数: 0 引用数: 0
h-index: 0
机构: HOP UNIV ENFANTS REINE FABIOLA,DEPT PEDIAT,B-1020 BRUSSELS,BELGIUM
[2]
HNF-3-BETA IS ESSENTIAL FOR NODE AND NOTOCHORD FORMATION IN MOUSE DEVELOPMENT
[J].
ANG, SL
;
ROSSANT, J
.
CELL,
1994, 78 (04)
:561-574

ANG, SL
论文数: 0 引用数: 0
h-index: 0
机构: MT SINAI HOSP,SAMUEL LUNENFELD RES INST,TORONTO M5G 1X5,ON,CANADA

ROSSANT, J
论文数: 0 引用数: 0
h-index: 0
机构: MT SINAI HOSP,SAMUEL LUNENFELD RES INST,TORONTO M5G 1X5,ON,CANADA
[3]
INHERITED PRIMARY HYPOTHYROIDISM IN MICE
[J].
BEAMER, WG
;
EICHER, EM
;
MALTAIS, LJ
;
SOUTHARD, JL
.
SCIENCE,
1981, 212 (4490)
:61-63

BEAMER, WG
论文数: 0 引用数: 0
h-index: 0

EICHER, EM
论文数: 0 引用数: 0
h-index: 0

MALTAIS, LJ
论文数: 0 引用数: 0
h-index: 0

SOUTHARD, JL
论文数: 0 引用数: 0
h-index: 0
[4]
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
[J].
Biebermann, H
;
Schoneberg, T
;
Krude, H
;
Schultz, G
;
Gudermann, T
;
Gruters, A
.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
1997, 82 (10)
:3471-3480

Biebermann, H
论文数: 0 引用数: 0
h-index: 0
机构: HUMBOLDT UNIV BERLIN, KLINIKUM RUDOLF VIRCHOW, FAK MED, KLIN & POLIKLIN KINDERHEILKUNDE, D-13353 BERLIN, GERMANY

Schoneberg, T
论文数: 0 引用数: 0
h-index: 0
机构: HUMBOLDT UNIV BERLIN, KLINIKUM RUDOLF VIRCHOW, FAK MED, KLIN & POLIKLIN KINDERHEILKUNDE, D-13353 BERLIN, GERMANY

Krude, H
论文数: 0 引用数: 0
h-index: 0
机构: HUMBOLDT UNIV BERLIN, KLINIKUM RUDOLF VIRCHOW, FAK MED, KLIN & POLIKLIN KINDERHEILKUNDE, D-13353 BERLIN, GERMANY

Schultz, G
论文数: 0 引用数: 0
h-index: 0
机构: HUMBOLDT UNIV BERLIN, KLINIKUM RUDOLF VIRCHOW, FAK MED, KLIN & POLIKLIN KINDERHEILKUNDE, D-13353 BERLIN, GERMANY

Gudermann, T
论文数: 0 引用数: 0
h-index: 0
机构: HUMBOLDT UNIV BERLIN, KLINIKUM RUDOLF VIRCHOW, FAK MED, KLIN & POLIKLIN KINDERHEILKUNDE, D-13353 BERLIN, GERMANY

Gruters, A
论文数: 0 引用数: 0
h-index: 0
机构: HUMBOLDT UNIV BERLIN, KLINIKUM RUDOLF VIRCHOW, FAK MED, KLIN & POLIKLIN KINDERHEILKUNDE, D-13353 BERLIN, GERMANY
[5]
Soluble dominant-negative receptor uncovers essential roles for fibroblast growth factors in multi-organ induction and patterning
[J].
Celli, G
;
LaRochelle, WJ
;
Mackem, S
;
Sharp, R
;
Merlino, G
.
EMBO JOURNAL,
1998, 17 (06)
:1642-1655

Celli, G
论文数: 0 引用数: 0
h-index: 0
机构: NCI, Mol Biol Lab, NIH, Bethesda, MD 20892 USA

LaRochelle, WJ
论文数: 0 引用数: 0
h-index: 0
机构: NCI, Mol Biol Lab, NIH, Bethesda, MD 20892 USA

Mackem, S
论文数: 0 引用数: 0
h-index: 0
机构: NCI, Mol Biol Lab, NIH, Bethesda, MD 20892 USA

Sharp, R
论文数: 0 引用数: 0
h-index: 0
机构: NCI, Mol Biol Lab, NIH, Bethesda, MD 20892 USA

Merlino, G
论文数: 0 引用数: 0
h-index: 0
机构: NCI, Mol Biol Lab, NIH, Bethesda, MD 20892 USA
[6]
FKHL15, a new human member of the forkhead gene family located on chromosome 9q22
[J].
Chadwick, BP
;
Obermayr, F
;
Frischauf, AM
.
GENOMICS,
1997, 41 (03)
:390-396

Chadwick, BP
论文数: 0 引用数: 0
h-index: 0
机构:
IMPERIAL CANC RES FUND,MOL ANAL MAMMALIAN MUTAT,LONDON WC2A 3PX,ENGLAND IMPERIAL CANC RES FUND,MOL ANAL MAMMALIAN MUTAT,LONDON WC2A 3PX,ENGLAND

Obermayr, F
论文数: 0 引用数: 0
h-index: 0
机构:
IMPERIAL CANC RES FUND,MOL ANAL MAMMALIAN MUTAT,LONDON WC2A 3PX,ENGLAND IMPERIAL CANC RES FUND,MOL ANAL MAMMALIAN MUTAT,LONDON WC2A 3PX,ENGLAND

Frischauf, AM
论文数: 0 引用数: 0
h-index: 0
机构:
IMPERIAL CANC RES FUND,MOL ANAL MAMMALIAN MUTAT,LONDON WC2A 3PX,ENGLAND IMPERIAL CANC RES FUND,MOL ANAL MAMMALIAN MUTAT,LONDON WC2A 3PX,ENGLAND
[7]
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
[J].
Clifton-Bligh, RJ
;
Wentworth, JM
;
Heinz, P
;
Crisp, MS
;
John, R
;
Lazarus, JH
;
Ludgate, M
;
Chatterjee, VK
.
NATURE GENETICS,
1998, 19 (04)
:399-401

Clifton-Bligh, RJ
论文数: 0 引用数: 0
h-index: 0
机构: Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

Wentworth, JM
论文数: 0 引用数: 0
h-index: 0
机构: Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

Heinz, P
论文数: 0 引用数: 0
h-index: 0
机构: Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

Crisp, MS
论文数: 0 引用数: 0
h-index: 0
机构: Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

John, R
论文数: 0 引用数: 0
h-index: 0
机构: Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

Lazarus, JH
论文数: 0 引用数: 0
h-index: 0
机构: Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

Ludgate, M
论文数: 0 引用数: 0
h-index: 0
机构: Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England

Chatterjee, VK
论文数: 0 引用数: 0
h-index: 0
机构: Addenbrookes Hosp, Dept Med, Cambridge CB2 2QQ, England
[8]
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
[J].
CliftonBligh, RJ
;
Gregory, JW
;
Ludgate, M
;
John, R
;
Persani, L
;
Asteria, C
;
BeckPeccoz, P
;
Chatterjee, VKK
.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,
1997, 82 (04)
:1094-1100

CliftonBligh, RJ
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CAMBRIDGE, ADDENBROOKES HOSP, DEPT MED, CAMBRIDGE CB2 2QQ, ENGLAND

Gregory, JW
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CAMBRIDGE, ADDENBROOKES HOSP, DEPT MED, CAMBRIDGE CB2 2QQ, ENGLAND

论文数: 引用数:
h-index:
机构:

John, R
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CAMBRIDGE, ADDENBROOKES HOSP, DEPT MED, CAMBRIDGE CB2 2QQ, ENGLAND

Persani, L
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CAMBRIDGE, ADDENBROOKES HOSP, DEPT MED, CAMBRIDGE CB2 2QQ, ENGLAND

Asteria, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CAMBRIDGE, ADDENBROOKES HOSP, DEPT MED, CAMBRIDGE CB2 2QQ, ENGLAND

BeckPeccoz, P
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CAMBRIDGE, ADDENBROOKES HOSP, DEPT MED, CAMBRIDGE CB2 2QQ, ENGLAND

Chatterjee, VKK
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CAMBRIDGE, ADDENBROOKES HOSP, DEPT MED, CAMBRIDGE CB2 2QQ, ENGLAND
[9]
Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
[J].
Coyle, B
;
Reardon, W
;
Herbrick, JA
;
Tsui, LC
;
Gausden, E
;
Lee, J
;
Coffey, R
;
Grueters, A
;
Grossman, A
;
Phelps, PD
;
Luxon, L
;
Kendall-Taylor, P
;
Scherer, SW
;
Trembath, RC
.
HUMAN MOLECULAR GENETICS,
1998, 7 (07)
:1105-1112

Coyle, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Reardon, W
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Herbrick, JA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Tsui, LC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Gausden, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Lee, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Coffey, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Grueters, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Grossman, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Phelps, PD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Luxon, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Kendall-Taylor, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Scherer, SW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England

Trembath, RC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Leicester, Dept Genet, Div Med Genet, Leicester LE1 7RH, Leics, England
[10]
Cloning and characterization of the thyroid iodide transporter
[J].
Dai, G
;
Levy, O
;
Carrasco, N
.
NATURE,
1996, 379 (6564)
:458-460

Dai, G
论文数: 0 引用数: 0
h-index: 0
机构:
YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT MOLEC PHARMACOL,BRONX,NY 10461 YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT MOLEC PHARMACOL,BRONX,NY 10461

Levy, O
论文数: 0 引用数: 0
h-index: 0
机构:
YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT MOLEC PHARMACOL,BRONX,NY 10461 YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT MOLEC PHARMACOL,BRONX,NY 10461

Carrasco, N
论文数: 0 引用数: 0
h-index: 0
机构:
YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT MOLEC PHARMACOL,BRONX,NY 10461 YESHIVA UNIV ALBERT EINSTEIN COLL MED,DEPT MOLEC PHARMACOL,BRONX,NY 10461