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Search results 101 to 126 out of 126 for Fam83h

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0.017s

Type

Details

Score

Publication

- | J:262123

First Author:	Allen Institute for Brain Science
Year:	2004
Journal:	Allen Institute
Title:	Allen Brain Atlas: mouse riboprobes

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Publication

- | J:144086

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2009
Journal:	Database Download
Title:	Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform

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Publication

- | J:155721

First Author:	Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year:	2010
Journal:	Database Download
Title:	Consensus CDS project

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Publication

- | J:85324

First Author:	Mouse Genome Informatics Group
Year:	2003
Journal:	Database Procedure
Title:	Automatic Encodes (AutoE) Reference

•

Publication

- | J:53168

First Author:	Bairoch A
Year:	1999
Journal:	Database Release
Title:	SWISS-PROT Annotated protein sequence database

•

Publication

- | J:91388

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2005

Title:	Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations

•

Publication

- | J:155221

First Author:	Mouse Genome Informatics
Year:	2010
Journal:	Database Release
Title:	Protein Ontology Association Load.

•

Publication

- | J:90438

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2005

Title:	Obtaining and loading genome assembly coordinates from NCBI annotations

•

Publication

- | J:144087

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2009
Journal:	Database Download
Title:	Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform

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Publication

19828885 | -

First Author:	Ding Y
Year:	2009
Journal:	J Dent Res
Title:	Fam83h is associated with intracellular vesicles and ADHCAI.
Volume:	88
Issue:	11
Pages:	991-6

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Allele

Fam83h<tm1.1Jpsi> | MGI:6143820

Name:	family with sequence similarity 83, member H; targeted mutation 1.1, James Simmer
Allele Type:	Targeted
Attribute String:	Null/knockout, Reporter

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Publication

19220331 | -

First Author:	Hart PS
Year:	2009
Journal:	Clin Genet
Title:	Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta.
Volume:	75
Issue:	4
Pages:	401-4

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Publication

19825039 | -

First Author:	Hyun HK
Year:	2009
Journal:	Int Endod J
Title:	Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta.
Volume:	42
Issue:	11
Pages:	1039-43

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Publication

20160442 | -

First Author:	El-Sayed W
Year:	2010
Journal:	Cells Tissues Organs
Title:	Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.
Volume:	191
Issue:	3
Pages:	235-9

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DO Term

DOID:0110055 | amelogenesis imperfecta type 3A

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Allele

Fam83h<em1Cya> | MGI:7382742

Name:	family with sequence similarity 83, member H; endonuclease-mediated mutation 1, Cyagen Biosciences
Allele Type:	Endonuclease-mediated
Attribute String:	Epitope tag, Null/knockout

•

Publication

19407157 | -

First Author:	Wright JT
Year:	2009
Journal:	J Dent Res
Title:	Phenotypic variation in FAM83H-associated amelogenesis imperfecta.
Volume:	88
Issue:	4
Pages:	356-60

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Publication

18484629 | -

First Author:	Lee SK
Year:	2008
Journal:	Hum Mutat
Title:	Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification.
Volume:	29
Issue:	8
Pages:	E95-9

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Protein Domain

IPR041996 | PLDc_FAM83H_N

Type:

Domain

Description:

This entry represents the N-terminal phospholipase D (PLD)-like domain of FAM83H, which localizes in the intracellular environment and is associated with vesicles, can be regulated by kinases, and plays important roles during ameloblast differentiation and enamel matrix calcification [, , ]. The gene encoding protein FAM83H is the first gene involved in the etiology of amelogenesis imperfecta (AI), that encodes a non-secreted protein due to the absence of a signal peptide [, ]. Defects in gene FAM83H cause autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI) [, , ]. Since the N-terminal PLD-like domain of FAM83H shows only trace similarity to the PLD catalytic domain and lacks the functionally important histidine residue, FAM83H may share a similar three-dimensional fold with PLD enzymes, but is most unlikely to carry PLD activity.

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Publication

18630941 | -

First Author:	Zhou H
Year:	2008
Journal:	J Proteome Res
Title:	Specific phosphopeptide enrichment with immobilized titanium ion affinity chromatography adsorbent for phosphoproteome analysis.
Volume:	7
Issue:	9
Pages:	3957-67

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Publication

19144319 | J:143718

First Author:	Trost M
Year:	2009
Journal:	Immunity
Title:	The phagosomal proteome in interferon-gamma-activated macrophages.
Volume:	30
Issue:	1
Pages:	143-54

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Publication

17242355 | -

First Author:	Villén J
Year:	2007
Journal:	Proc Natl Acad Sci U S A
Title:	Large-scale phosphorylation analysis of mouse liver.
Volume:	104
Issue:	5
Pages:	1488-93

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Publication

16141072 | J:99680

First Author:	Carninci P
Year:	2005
Journal:	Science
Title:	The transcriptional landscape of the mammalian genome.
Volume:	309
Issue:	5740
Pages:	1559-63

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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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Publication

21183079 | J:292518

First Author:	Huttlin EL
Year:	2010
Journal:	Cell
Title:	A tissue-specific atlas of mouse protein phosphorylation and expression.
Volume:	143
Issue:	7
Pages:	1174-89

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Publication

19468303 | -

First Author:	Church DM
Year:	2009
Journal:	PLoS Biol
Title:	Lineage-specific biology revealed by a finished genome assembly of the mouse.
Volume:	7
Issue:	5
Pages:	e1000112

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