A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly (Q28118296)

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Language	Label	Description	Also known as
English	A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly	scientific journal article

Statements

scholarly article

1 reference

PubMed publication ID

4 January 2017

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly (English)

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PubMed publication ID

4 January 2017

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Lina Basel-Vanagaite

4

object named as

Lina Basel-Vanagaite

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author name string

Ganeshwaran H. Mochida

1

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PubMed publication ID

4 January 2017

Muhammad Mahajnah

2

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4 January 2017

Anthony D. Hill

3

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4 January 2017

Lina Basel-Vanagaite

4

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PubMed publication ID

4 January 2017

Danielle Gleason

5

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4 January 2017

R. Sean Hill

6

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PubMed publication ID

4 January 2017

Adria Bodell

7

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PubMed publication ID

4 January 2017

Moira Crosier

8

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4 January 2017

Rachel Straussberg

9

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4 January 2017

Christopher A. Walsh

10

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4 January 2017

publication date

1 December 2009

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PubMed publication ID

4 January 2017

American Journal of Human Genetics

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4 January 2017

85

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4 January 2017

6

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4 January 2017

897–902

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PubMed publication ID

4 January 2017

The DNA sequence of the human X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

20 March 2017

Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

20 March 2017

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

1 reference

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20 March 2017

A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

20 March 2017

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

20 March 2017

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

20 March 2017

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

1 reference

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20 March 2017

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

20 March 2017

Mutants in trs120 disrupt traffic from the early endosome to the late Golgi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

20 March 2017

NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

20 March 2017

Genetics of intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

29 September 2017

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

1 reference

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29 September 2017

Toll-like receptors modulate adult hippocampal neurogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

29 September 2017

Tumor necrosis factor alpha triggers proliferation of adult neural stem cells via IKK/NF-kappaB signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

29 September 2017

X-linked mental retardation: many genes for a complex disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

29 September 2017

Molecular genetics of human microcephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

29 September 2017

Identifiers

10.1016/J.AJHG.2009.10.027

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PMC publication ID

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PubMed publication ID

1 reference

PubMed publication ID

4 January 2017

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