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

4 January 2017

title

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

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4 January 2017

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Lina Basel-Vanagaite

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author name string

Ganeshwaran H. Mochida

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4 January 2017

Muhammad Mahajnah

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4 January 2017

Anthony D. Hill

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4 January 2017

Danielle Gleason

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4 January 2017

R. Sean Hill

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4 January 2017

Adria Bodell

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4 January 2017

Moira Crosier

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4 January 2017

Rachel Straussberg

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4 January 2017

Christopher A. Walsh

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4 January 2017

publication date

1 December 2009

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American Journal of Human Genetics

4 January 2017

published in

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4 January 2017

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4 January 2017

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4 January 2017

page(s)

897–902

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The DNA sequence of the human X chromosome

4 January 2017

cites work

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

20 March 2017

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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

20 March 2017

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

20 March 2017

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

20 March 2017

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

20 March 2017

1 reference

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

20 March 2017

1 reference

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

20 March 2017

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

20 March 2017

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

20 March 2017

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Genetics of intellectual disability

20 March 2017

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

29 September 2017

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Toll-like receptors modulate adult hippocampal neurogenesis

29 September 2017

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

29 September 2017

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

29 September 2017

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29 September 2017

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

29 September 2017

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

2 June 2018

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

2 June 2018

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27 November 2018

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Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation

27 November 2018

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10.1016/J.AJHG.2009.10.027

27 November 2018

Identifiers

DOI

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PMC publication ID

2790576

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1 reference