Gene name:
TCF4 (BHLHB19;ITF2;SEF2) ;
Protein name:
Transcription factor 4 (TCF-4) ;
Alternative:
Immunoglobulin transcription factor 2 (ITF-2) ;Class B basic helix-loop-helix protein 19 (bHLHb19) ;SL3-3 enhancer factor 2 (SEF-2) ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin. Interacts with HIVEP2. Interacts with NEUROD2.
Function:
Transcription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'.
Subcellular Location:
Nucleus
Protein Attributes:
50:
MHHQQRMAAL | GTDKELSDLL | DFSAMFSPPV | SSGKNGPTSL | ASGHFTGSNV |
100:
EDRSSSGSWG | NGGHPSPSRN | YGDGTPYDHM | TSRDLGSHDN | LSPPFVNSRI |
150:
QSKTERGSYS | SYGRESNLQG | CHQQSLLGGD | MDMGNPGTLS | PTKPGSQYYQ |
200:
YSSNNPRRRP | LHSSAMEVQT | KKVRKVPPGL | PSSVYAPSAS | TADYNRDSPG |
250:
YPSSKPATST | FPSSFFMQDG | HHSSDPWSSS | SGMNQPGYAG | MLGNSSHIPQ |
300:
SSSYCSLHPH | ERLSYPSHSS | ADINSSLPPM | STFHRSGTNH | YSTSSCTPPA |
350:
NGTDSIMANR | GSGAAGSSQT | GDALGKALAS | IYSPDHTNNS | FSSNPSTPVG |
400:
SPPSLSAGTA | VWSRNGGQAS | SSPNYEGPLH | SLQSRIEDRL | ERLDDAIHVL |
450:
RNHAVGPSTA | MPGGHGDMHG | IIGPSHNGAM | GGLGSGYGTG | LLSANRHSLM |
500:
VGTHREDGVA | LRGSHSLLPN | QVPVPQLPVQ | SATSPDLNPP | QDPYRGMPPG |
550:
LQGQSVSSGS | SEIKSDDEGD | ENLQDTKSSE | DKKLDDDKKD | IKSITSNNDD |
600:
EDLTPEQKAE | REKERRMANN | ARERLRVRDI | NEAFKELGRM | VQLHLKSDKP |
650:
QTKLLILHQA | VAVILSLEQQ | VRERNLNPKA | ACLKRREEEK | VSSEPPPLSL |
667:
AGPHPGMGDA | SNHMGQM
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Chicken
Dog
Mouse
Rat
ELISA Kit for Human TCF-4
ELISA Kit for Human TCF-4
ELISA Kit for Human TCF-4
ELISA Kit for Human TCF-4
ELISA Kit for Human TCF-4
Polyclonal Antibody for Human TCF-4
Polyclonal Antibody for Human TCF-4
Polyclonal Antibody for Human TCF-4
Polyclonal Antibody for Human TCF-4
Polyclonal Antibody for Human TCF-4
Monoclonal Antibody for Human TCF-4
Monoclonal Antibody for Human TCF-4
Monoclonal Antibody for Human TCF-4
Monoclonal Antibody for Human TCF-4
Monoclonal Antibody for Human TCF-4
R&D Technical Data
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Precision
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Recovery
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Linearity
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
References
1.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS SEF2-1A; SEF2-1B AND SEF2-1D);ALTERNATIVE SPLICING (ISOFORM SEF2-1C)
tissue :
Thymocyte .
tissue :
Thymus .
2.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A-; B-DELTA; B+DELTA; C-; C-DELTA; D-; E-; F-; G-; H-; I-; SEF2-1A; SEF2-1B AND SEF2-1D);ALTERNATIVE SPLICING
3.
"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T.
,
Suzuki Y.
,
Nishikawa T.
,
Otsuki T.
,
Sugiyama T.
,
Irie R.
,
Wakamatsu A.
,
Hayashi K.
,
Sato H.
,
Nagai K.
,
Kimura K.
,
Makita H.
,
Sekine M.
,
Obayashi M.
,
Nishi T.
,
Shibahara T.
,
Tanaka T.
,
Ishii S.
,
Yamamoto J.
,
Saito K.
,
Kawai Y.
,
Isono Y.
,
Nakamura Y.
,
Nagahari K.
,
Murakami K.
,
Yasuda T.
,
Iwayanagi T.
,
Wagatsuma M.
,
Shiratori A.
,
Sudo H.
,
Hosoiri T.
,
Kaku Y.
,
Kodaira H.
,
Kondo H.
,
Sugawara M.
,
Takahashi M.
,
Kanda K.
,
Yokoi T.
,
Furuya T.
,
Kikkawa E.
,
Omura Y.
,
Abe K.
,
Kamihara K.
,
Katsuta N.
,
Sato K.
,
Tanikawa M.
,
Yamazaki M.
,
Ninomiya K.
,
Ishibashi T.
,
Yamashita H.
,
Murakawa K.
,
Fujimori K.
,
Tanai H.
,
Kimata M.
,
Watanabe M.
,
Hiraoka S.
,
Chiba Y.
,
Ishida S.
,
Ono Y.
,
Takiguchi S.
,
Watanabe S.
,
Yosida M.
,
Hotuta T.
,
Kusano J.
,
Kanehori K.
,
Takahashi-Fujii A.
,
Hara H.
,
Tanase T.-O.
,
Nomura Y.
,
Togiya S.
,
Komai F.
,
Hara R.
,
Takeuchi K.
,
Arita M.
,
Imose N.
,
Musashino K.
,
Yuuki H.
,
Oshima A.
,
Sasaki N.
,
Aotsuka S.
,
Yoshikawa Y.
,
Matsunawa H.
,
Ichihara T.
,
Shiohata N.
,
Sano S.
,
Moriya S.
,
Momiyama H.
,
Satoh N.
,
Takami S.
,
Terashima Y.
,
Suzuki O.
,
Nakagawa S.
,
Senoh A.
,
Mizoguchi H.
,
Goto Y.
,
Shimizu F.
,
Wakebe H.
,
Hishigaki H.
,
Watanabe T.
,
Sugiyama A.
,
Takemoto M.
,
Kawakami B.
,
Yamazaki M.
,
Watanabe K.
,
Kumagai A.
,
Itakura S.
,
Fukuzumi Y.
,
Fujimori Y.
,
Komiyama M.
,
Tashiro H.
,
Tanigami A.
,
Fujiwara T.
,
Ono T.
,
Yamada K.
,
Fujii Y.
,
Ozaki K.
,
Hirao M.
,
Ohmori Y.
,
Kawabata A.
,
Hikiji T.
,
Kobatake N.
,
Inagaki H.
,
Ikema Y.
,
Okamoto S.
,
Okitani R.
,
Kawakami T.
,
Noguchi S.
,
Itoh T.
,
Shigeta K.
,
Senba T.
,
Matsumura K.
,
Nakajima Y.
,
Mizuno T.
,
Morinaga M.
,
Sasaki M.
,
Togashi T.
,
Oyama M.
,
Hata H.
,
Watanabe M.
,
Komatsu T.
,
Mizushima-Sugano J.
,
Satoh T.
,
Shirai Y.
,
Takahashi Y.
,
Nakagawa K.
,
Okumura K.
,
Nagase T.
,
Nomura N.
,
Kikuchi H.
,
Masuho Y.
,
Yamashita R.
,
Nakai K.
,
Yada T.
,
Nakamura Y.
,
Ohara O.
,
Isogai T.
,
Sugano S.
more...
Nat. Genet.36:40-45(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SEF2-1A; C-; D-; F-; 11 AND 13)
tissue :
Brain .
tissue :
Hippocampus .
tissue :
Spleen .
tissue :
Teratocarcinoma .
4.
"DNA sequence and analysis of human chromosome 18."
Nusbaum C.
,
Zody M.C.
,
Borowsky M.L.
,
Kamal M.
,
Kodira C.D.
,
Taylor T.D.
,
Whittaker C.A.
,
Chang J.L.
,
Cuomo C.A.
,
Dewar K.
,
FitzGerald M.G.
,
Yang X.
,
Abouelleil A.
,
Allen N.R.
,
Anderson S.
,
Bloom T.
,
Bugalter B.
,
Butler J.
,
Cook A.
,
DeCaprio D.
,
Engels R.
,
Garber M.
,
Gnirke A.
,
Hafez N.
,
Hall J.L.
,
Norman C.H.
,
Itoh T.
,
Jaffe D.B.
,
Kuroki Y.
,
Lehoczky J.
,
Lui A.
,
Macdonald P.
,
Mauceli E.
,
Mikkelsen T.S.
,
Naylor J.W.
,
Nicol R.
,
Nguyen C.
,
Noguchi H.
,
O'Leary S.B.
,
Piqani B.
,
Smith C.L.
,
Talamas J.A.
,
Topham K.
,
Totoki Y.
,
Toyoda A.
,
Wain H.M.
,
Young S.K.
,
Zeng Q.
,
Zimmer A.R.
,
Fujiyama A.
,
Hattori M.
,
Birren B.W.
,
Sakaki Y.
,
Lander E.S.
more...
Nature437:551-555(2005)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
5.
Mural R.J.
,
Istrail S.
,
Sutton G.G.
,
Florea L.
,
Halpern A.L.
,
Mobarry C.M.
,
Lippert R.
,
Walenz B.
,
Shatkay H.
,
Dew I.
,
Miller J.R.
,
Flanigan M.J.
,
Edwards N.J.
,
Bolanos R.
,
Fasulo D.
,
Halldorsson B.V.
,
Hannenhalli S.
,
Turner R.
,
Yooseph S.
,
Lu F.
,
Nusskern D.R.
,
Shue B.C.
,
Zheng X.H.
,
Zhong F.
,
Delcher A.L.
,
Huson D.H.
,
Kravitz S.A.
,
Mouchard L.
,
Reinert K.
,
Remington K.A.
,
Clark A.G.
,
Waterman M.S.
,
Eichler E.E.
,
Adams M.D.
,
Hunkapiller M.W.
,
Myers E.W.
,
Venter J.C.
more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS SEF2-1B AND SEF2-1D)
7.
"MDSDCE06_MDS Homo sapiens cDNA clone MDSDCE06 5',mRNA sequence."
Gu J.
,
Zhao M.
,
Huang Q.
,
Xu X.
,
Li Y.
,
Peng Y.
,
Song H.
,
Xiao H.
,
Gu Y.
,
Li N.
,
Qian B.
,
Liu F.
,
Qu J.
,
Gao X.
,
Cheng Z.
,
Xu Z.
,
Zeng L.
,
Xu S.
,
Gu W.
,
Tu Y.
,
Jia J.
,
Fu G.
,
Ren S.
,
Zhong M.
,
Lu G.
,
Yang Y.
,
Gao G.
,
Zhang Q.
,
Chen S.
,
Han Z.
,
Chen Z.
more...
Submitted (2000-10) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 1-278 (ISOFORM SEF2-1A)
8.
"A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1."
Breschel T.S.
,
McInnis M.G.
,
Margolis R.L.
,
Sirugo G.
,
Corneliussen B.
,
Simpson S.G.
,
McMahon F.J.
,
Mackinnon D.F.
,
Xu J.F.
,
Pleasant N.
,
Huo Y.
,
Ashworth R.G.
,
Grundstrom C.
,
Grundstrom T.
,
Kidd K.K.
,
Depaulo J.R.
,
Ross C.A.
Hum. Mol. Genet.6:1855-1863(1997)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 25-48
tissue :
Skin fibroblast .
9.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] OF 46-667 (ISOFORM SEF2-1B)
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : DISCUSSION OF SEQUENCE
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : DOMAIN
12.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-515;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
13.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : SUBCELLULAR LOCATION;CHARACTERIZATION OF VARIANTS PTHS VAL-358; GLY-535; PRO-574; TRP-576 AND VAL-610
14.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH AGBL1
15.
"Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction."
Amiel J.
,
Rio M.
,
de Pontual L.
,
Redon R.
,
Malan V.
,
Boddaert N.
,
Plouin P.
,
Carter N.P.
,
Lyonnet S.
,
Munnich A.
,
Colleaux L.
Am. J. Hum. Genet.80:988-993(2007)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PTHS TRP-576 AND GLN-576
16.
"Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)."
Zweier C.
,
Peippo M.M.
,
Hoyer J.
,
Sousa S.
,
Bottani A.
,
Clayton-Smith J.
,
Reardon W.
,
Saraiva J.
,
Cabral A.
,
Goehring I.
,
Devriendt K.
,
de Ravel T.
,
Bijlsma E.K.
,
Hennekam R.C.M.
,
Orrico A.
,
Cohen M.
,
Dreweke A.
,
Reis A.
,
Nuernberg P.
,
Rauch A.
more...
Am. J. Hum. Genet.80:994-1001(2007)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT PTHS TRP-576
17.
"Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients."
Zweier C.
,
Sticht H.
,
Bijlsma E.K.
,
Clayton-Smith J.
,
Boonen S.E.
,
Fryer A.
,
Greally M.T.
,
Hoffmann L.
,
den Hollander N.S.
,
Jongmans M.
,
Kant S.G.
,
King M.D.
,
Lynch S.A.
,
McKee S.
,
Midro A.T.
,
Park S.M.
,
Ricotti V.
,
Tarantino E.
,
Wessels M.
,
Peippo M.
,
Rauch A.
more...
J. Med. Genet.45:738-744(2008)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PTHS VAL-358; PRO-574 AND HIS-578
18.
"Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome."
de Pontual L.
,
Mathieu Y.
,
Golzio C.
,
Rio M.
,
Malan V.
,
Boddaert N.
,
Soufflet C.
,
Picard C.
,
Durandy A.
,
Dobbie A.
,
Heron D.
,
Isidor B.
,
Motte J.
,
Newburry-Ecob R.
,
Pasquier L.
,
Tardieu M.
,
Viot G.
,
Jaubert F.
,
Munnich A.
,
Colleaux L.
,
Vekemans M.
,
Etchevers H.
,
Lyonnet S.
,
Amiel J.
more...
Hum. Mutat.30:669-676(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PTHS GLY-535; GLY-572; GLN-576 AND VAL-610;CHARACTERIZATION OF VARIANTS PTHS GLY-535; GLY-572; GLN-576 AND VAL-610
19.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANT PTHS PRO-578
20.
"Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum."
Whalen S.
,
Heron D.
,
Gaillon T.
,
Moldovan O.
,
Rossi M.
,
Devillard F.
,
Giuliano F.
,
Soares G.
,
Mathieu-Dramard M.
,
Afenjar A.
,
Charles P.
,
Mignot C.
,
Burglen L.
,
Van Maldergem L.
,
Piard J.
,
Aftimos S.
,
Mancini G.
,
Dias P.
,
Philip N.
,
Goldenberg A.
,
Le Merrer M.
,
Rio M.
,
Josifova D.
,
Van Hagen J.M.
,
Lacombe D.
,
Edery P.
,
Dupuis-Girod S.
,
Putoux A.
,
Sanlaville D.
,
Fischer R.
,
Drevillon L.
,
Briand-Suleau A.
,
Metay C.
,
Goossens M.
,
Amiel J.
,
Jacquette A.
,
Giurgea I.
more...
Hum. Mutat.33:64-72(2012)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS PTHS TRP-565; GLY-572; GLN-572; HIS-574; PRO-574; TRP-576; GLN-576; PRO-578; PRO-583 AND VAL-610