PMID- 10403172
OWN - NLM
STAT- MEDLINE
DCOM- 19990902
LR  - 20190822
IS  - 0300-9084 (Print)
IS  - 0300-9084 (Linking)
VI  - 81
IP  - 5
DP  - 1999 May
TI  - Cloning, chromosomal localization and identification of polymorphisms in the
      human thyroid transcription factor 2 gene (TITF2).
PG  - 433-40
AB  - The human gene encoding the thyroid transcription factor 2 (TTF-2) was cloned and
      mapped to human chromosome 9q22. Three polymorphisms were identified in the gene 
      by SSCP and direct sequencing: two consist of a third base substitution in the
      triplet encoding Leu129 and Ser273, and the third is an alanine stretch that
      varies from 12 to 17 residues. TTF-2 plays a critical role during thyroid
      morphogenesis in mice, and in man the TITF2 gene is associated with congenital
      hypothyroidism and cleft palate with thyroid dysgenesis. The polymorphisms
      identified in this study can be used as markers to study the role of the TITF2
      gene in other cases of thyroid dysgenesis, especially in familial cases.
FAU - Macchia, P E
AU  - Macchia PE
AD  - Stazione Zoologica A. Dohrn, Naples, Italy.
FAU - Mattei, M G
AU  - Mattei MG
FAU - Lapi, P
AU  - Lapi P
FAU - Fenzi, G
AU  - Fenzi G
FAU - Di Lauro, R
AU  - Di Lauro R
LA  - eng
SI  - GENBANK/Y13386
GR  - E.0406/Telethon/Italy
PT  - Journal Article
PL  - France
TA  - Biochimie
JT  - Biochimie
JID - 1264604
RN  - 0 (DNA, Complementary)
RN  - 0 (Nuclear Receptor Coactivator 2)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 9
MH  - Cloning, Molecular
MH  - DNA, Complementary
MH  - Gene Expression
MH  - Humans
MH  - Molecular Sequence Data
MH  - Nuclear Receptor Coactivator 2
MH  - *Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - Rats
MH  - *Thyroid Gland
MH  - Transcription Factors/*genetics
EDAT- 1999/07/14 00:00
MHDA- 1999/07/14 00:01
CRDT- 1999/07/14 00:00
PHST- 1999/07/14 00:00 [pubmed]
PHST- 1999/07/14 00:01 [medline]
PHST- 1999/07/14 00:00 [entrez]
AID - S0300-9084(99)80092-3 [pii]
AID - 10.1016/s0300-9084(99)80092-3 [doi]
PST - ppublish
SO  - Biochimie. 1999 May;81(5):433-40. doi: 10.1016/s0300-9084(99)80092-3.