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Pitt-Hopkins Syndrome (keyword)
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1
journal article EST
/
journal article ENG
Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia
Sirp, Alex
;
Roots, Kaisa
;
Nurm, Kaja
;
Tuvikene, Jürgen
;
Sepp, Mari
;
Timmusk, Tõnis
The journal of biological chemistry
2021
/
art. 101381
https://doi.org/10.1016/j.jbc.2021.101381
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journal article EST
/
journal article ENG
Seotud publikatsioonid
1
Molecular characterization of basic helix-loop-helix transcription factor TCF4 : from expression to function = Aluselise heeliks-ling-heeliks transkriptsiooniteguri TCF4 ekspressiooni ja funktsiooni kirjeldamine
2
journal article EST
/
journal article ENG
The intellectual disability and schizophrenia associated transcription factor TCF4 is regulated by neuronal activity and protein kinase A
Sepp, Mari
;
Vihma, Hanna
;
Nurm, Kaja
;
Urb, Mari
;
Page, Stephanie Cerceo
;
Roots, Kaisa
;
Hark, Anu
;
Maher, Brady J.
;
Pruunsild, Priit
;
Timmusk, Tõnis
Journal of neuroscience
2017
/
p. 10516-10527 : ill
https://doi.org/10.1523/JNEUROSCI.1151-17.2017
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journal article EST
/
journal article ENG
3
journal article
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless
Tamberg, Laura
;
Sepp, Mari
;
Timmusk, Tõnis
;
Palgi, Mari
Biology open
2015
/
p. 1762-1771 : ill
http://dx.doi.org/10.1242/bio.014696
journal article
Seotud publikatsioonid
1
Studies of the Drosophila basic helix-loop-helix transcription factor Daughterless and its mammalian homologue Transcription factor 4 = Äädikakärbse aluselise heeliks-ling-heeliks transkriptsioonifaktori Daughterless ja tema imetaja homoloogi Transkriptsioonifaktor 4 uuringud
4
book article
Introducing Pitt-Hopkins Syndrome-associated mutations of TCF4 to Drosophila daughterless : [conference paper]
Palgi, Mari
;
Tamberg, Laura
;
Timmusk, Tõnis
VI Baltic Genetics Congress : September 30 - October 3, 2015, Institute of Molecular and Cell Biology, Tartu, Estonia : book of abstracts
2015
/
1 p
book article
5
journal article EST
/
journal article ENG
Partial deletion of TCF4 in three generation family with nonsyndromic intellectual disability, without features of Pitt-Hopkins syndrome
Kharbanda, Mira
;
Kannike, Kaja
;
Lampe, Anne
;
Berg, Jonathan
;
Timmusk, Tõnis
;
Sepp, Mari
European journal of medical genetics
2016
/
p. 310-314 : ill
https://doi.org/10.1016/j.ejmg.2016.04.003
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journal article EST
/
journal article ENG
Number of records 5, displaying
1 - 5
keyword
16
1.
Pitt-Hopkins Syndrome
2.
Pitt–Hopkins syndrome
3.
acquired von Willebrand syndrome
4.
acute coronary syndrome
5.
cardiorenal syndrome
6.
Goodpasture syndrome
7.
GRACILE syndrome
8.
Metabolic syndrome
9.
Monday morning e-mail syndrome
10.
ovarian dysgenesis syndrome
11.
polycystic ovary syndrome
12.
sick-building syndrome
13.
Venice syndrome
14.
white Elephant syndrome
15.
wolfram syndrome
16.
“White elephant” syndrome
author
2
1.
Hopkins, Cate
2.
Hopkins, Mark A.
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