Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.

doi:10.1016/j.ajhg.2009.11.009

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.

American journal of human genetics - 1 Dec 2009

Mir Asif, Kaufman Liana, Noor Abdul, Motazacker Mahdi M, Jamil Talal, Azam Matloob, Kahrizi Kimia, Rafiq Muhammad Arshad, Weksberg Rosanna, Nasr Tanveer, Naeem Farooq, Tzschach Andreas, Kuss Andreas W, Ishak Gisele E, Doherty Dan, Ropers H Hilger, Barkovich A James, Najmabadi Hossein, Ayub Muhammad, Vincent John B

Abstract excerpt

Mental retardation/intellectual disability is a devastating neurodevelopmental disorder with serious impact on affected individuals and their families, as well as on health and social services. It occurs with a prevalence of approximately 2%, is an etiologically heterogeneous condition, and is frequently the result of genetic aberrations. Autosomal-recessive forms of nonsyndromic MR (NS-ARMR) are believed to be...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to I-kappa B Kinase

Share to Intellectual Disability

Share to Intercellular Signaling Peptides and Proteins

Share to Lod Score

Share to Magnetic Resonance Spectroscopy

Share to Protein Serine-Threonine Kinases

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 20004765
DOI: 10.1016/j.ajhg.2009.11.009
PMCID: PMC2790571

Genes

TRAPPC9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.PMID 20004765Read ↗

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.Semantic proximity Read ↗

Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan.Semantic proximity Read ↗

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.Semantic proximity Read ↗

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.Semantic proximity Read ↗

Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family.Semantic proximity Read ↗

A gene for nonsyndromic mental retardation maps to chromosome 3p25-pter.Semantic proximity Read ↗

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.Semantic proximity Read ↗

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.Semantic proximity Read ↗

Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation.Semantic proximity Read ↗

Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous FamiliesSemantic proximity Read ↗

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.