(Q28118296)

4 January 2017

title

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

1 reference

Trafficking protein particle complex 9

4 January 2017

0 references

1 reference

cerebral cortex development

GOA release 2020-03-11

1 reference

Trafficking protein particle complex 9

GOA release 2020-03-11

1 reference

disability affecting intellectual abilities

GOA release 2020-03-11

postnatal microcephaly

1 reference

based on heuristic

inferred from title

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

4

Lina Basel-Vanagaite

0 references

Ganeshwaran H Mochida

1

object named as

Ganeshwaran H. Mochida

1 reference

4 January 2017

10

Christopher A. Walsh

1 reference

4 January 2017

3

Anthony D. Hill

1 reference

4 January 2017

5

Danielle Gleason

1 reference

4 January 2017

7

Adria Bodell

1 reference

4 January 2017

Muhammad Mahajnah

2

1 reference

4 January 2017

R. Sean Hill

6

1 reference

4 January 2017

Moira Crosier

8

1 reference

4 January 2017

Rachel Straussberg

9

1 reference

4 January 2017

language of work or name

English

0 references

publication date

1 December 2009

1 reference

American Journal of Human Genetics

4 January 2017

published in

1 reference

4 January 2017

volume

85

1 reference

4 January 2017

issue

6

1 reference

4 January 2017

page(s)

897–902

1 reference

The DNA sequence of the human X chromosome

4 January 2017

cites work

1 reference

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

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

20 March 2017

1 reference

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

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

20 March 2017

1 reference

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

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

20 March 2017

1 reference

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

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

20 March 2017

1 reference

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

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

20 March 2017

1 reference

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

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

20 March 2017

1 reference

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

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

20 March 2017

1 reference

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

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

20 March 2017

1 reference

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

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

20 March 2017

1 reference

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

Genetics of intellectual disability

20 March 2017

1 reference

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

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

29 September 2017

1 reference

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

Toll-like receptors modulate adult hippocampal neurogenesis

29 September 2017

1 reference

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

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

29 September 2017

1 reference

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

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

29 September 2017

1 reference

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

Molecular genetics of human microcephaly

29 September 2017

1 reference

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

Impaired adult neurogenesis associated with short-term memory defects in NF-kappaB p50-deficient mice.

29 September 2017

1 reference

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

Differential distribution of the glutamate transporters GLT-1 and GLAST in tanycytes of the third ventricle

2 June 2018

1 reference

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

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

2 June 2018

1 reference

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

27 November 2018

1 reference

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

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

27 November 2018

1 reference

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

10.1016/J.AJHG.2009.10.027

27 November 2018

Identifiers

DOI

0 references

PMC publication ID

2790576

0 references

1 reference