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Search results 201 to 218 out of 218 for Tcof1

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0.016s

Type

Details

Score

Publication

24603435 | -

First Author:	Schaefer E
Year:	2014
Journal:	Genet Med
Title:	Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Volume:	16
Issue:	9
Pages:	720-4

•

Allele

Tg(Camk2a-P2rx2/YC3.1)21Khakh | MGI:5569123

Name:	transgene insertion 21, Baljit Khakh
Allele Type:	Transgenic
Attribute String:	Inserted expressed sequence, Reporter

•

Strain

MGI:5569001 | B6N.Cg-Tg(Camk2a-P2rx2/YC3.1)21Khakh/J

Attribute String:

congenic, mutant strain, transgenic

•

HT Experiment

E-GEOD-10167 | Transcription profiling of mouse E8.5 wild-type and 3 E8.5 Tcof1+/- littermate embryos (Treacher Collins Syndrome)

Series Id:	GSE10167
Experiment Type:	transcription profiling by array
Study Type:	WT vs. Mutant
Source:	ArrayExpress

•

Publication

24742463 | J:209943

First Author:	Haustein MD
Year:	2014
Journal:	Neuron
Title:	Conditions and constraints for astrocyte calcium signaling in the hippocampal mossy fiber pathway.
Volume:	82
Issue:	2
Pages:	413-29

•

Protein

Q3TBZ3

Organism:	Mus musculus/domesticus
Length:	650
Fragment?:	true

•

Protein

Q3TAB2

Organism:	Mus musculus/domesticus
Length:	696
Fragment?:	true

•

Publication

9042910 | -

First Author:	Edwards SJ
Year:	1997
Journal:	Am J Hum Genet
Title:	The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
Volume:	60
Issue:	3
Pages:	515-24

•

Protein

H3BK88

Organism:	Mus musculus/domesticus
Length:	167
Fragment?:	true

•

Protein Domain

IPR017859 | Treacle

Type:

Family

Description:

Treacher Collins Syndrome (TCS) is an autosomal dominant disorder ofcraniofacial development, the features of which include conductive hearing loss and cleft palate [, ]; it is the most common of the human mandibulo-facial dysostosis disorders []. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified (TCOF1) []. To date, 35 mutations have been reported in TCOF1, all but one of which result in the introduction of a premature-termination codon into the predicted protein, Treacle. The observed mutational spectrum supports the hypothesis that TCS results from haploinsufficiency.Treacle is a low complexity protein of 1,411 amino acids whose predictedprotein structure contains a set of highly polar repeated motifs []. These motifs are common to nucleolar trafficking proteins in other species and are predicted to be phosphorylated by casein kinase. In concert with this observation, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localisation signals []. Throughout the open reading frame are found mutations in TCS families and several polymorphisms. It has thus been suggested that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.This entry contains Treacle and other related proteins.

•

Protein Domain

IPR003993 | Treacle_dom

Type:

Domain

Description:

Treacher Collins Syndrome (TCS) is an autosomal dominant disorder ofcraniofacial development, the features of which include conductive hearing loss and cleft palate [, ]; it is the most common of the human mandibulo-facial dysostosis disorders []. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified (TCOF1) []. To date, 35 mutations have been reported in TCOF1, all but one of which result in the introduction of a premature-termination codon into the predicted protein, Treacle. The observed mutational spectrum supports the hypothesis that TCS results from haploinsufficiency.Treacle is a low complexity protein of 1,411 amino acids whose predictedprotein structure contains a set of highly polar repeated motifs []. These motifs are common to nucleolar trafficking proteins in other species and are predicted to be phosphorylated by casein kinase. In concert with this observation, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localisation signals []. Throughout the openreading frame are found mutations in TCS families and several polymorphisms. It has thus been suggested that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.

•

Publication

9811939 | J:50870

First Author:	Winokur ST
Year:	1998
Journal:	Hum Mol Genet
Title:	The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
Volume:	7
Issue:	12
Pages:	1947-52

•

Protein

O08784

Organism:	Mus musculus/domesticus
Length:	1320
Fragment?:	false

•

Protein

H3BIX0

Organism:	Mus musculus/domesticus
Length:	1056
Fragment?:	true

•

Protein

H3BL37

Organism:	Mus musculus/domesticus
Length:	1356
Fragment?:	false

•

Protein

F6R3V4

Organism:	Mus musculus/domesticus
Length:	1013
Fragment?:	false

•

Publication

29364875 | J:257747

First Author:	Calo E
Year:	2018
Journal:	Nature
Title:	Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.
Volume:	554
Issue:	7690
Pages:	112-117

•

Publication

15489334 | -

First Author:	Gerhard DS
Year:	2004
Journal:	Genome Res
Title:	The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Volume:	14
Issue:	10B
Pages:	2121-7

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