TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
about
In sickness and in health: the role of TRAPP and associated proteins in diseaseExpression and function of NIK- and IKK2-binding protein (NIBP) in mouse enteric nervous systemGenetic differentiation of hypothalamus parentally biased transcripts in populations of the house mouse implicate the Prader-Willi syndrome imprinted region as a possible source of behavioral divergence.NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.The PEG13-DMR and brain-specific enhancers dictate imprinted expression within the 8q24 intellectual disability risk locus.A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.Identification of conserved, centrosome-targeting ASH domains in TRAPPII complex subunits and TRAPPC8Genome-Wide Associations Related to Hepatic Histology in Nonalcoholic Fatty Liver Disease in Hispanic Boys.Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.TRAPPC13 modulates autophagy and the response to Golgi stress.Screening individuals with intellectual disability, autism and Tourette's syndrome for KCNK9 mutations and aberrant DNA methylation within the 8q24 imprinted cluster.Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
P2860
Q27026407-2FE50E8D-98E5-45CF-9F09-C5E6DF6145BDQ28505064-B60FC0FE-CCC2-4CF5-A6F6-FABF270E975EQ34579259-6B779836-90E5-4A7B-A90E-B863C8C26E3EQ36543027-187EDB71-3BF2-403E-BEAF-56F8582CB146Q38384453-4C9B8233-151A-4816-9795-6A2152BAEC26Q38756631-2211A3AE-E47B-4788-A641-28C4C0AC6229Q41919422-D7677AC6-1F47-49FD-B26D-83450BDE6AFBQ42462073-A6DAA54F-5A97-4B6B-98D6-E3AB37FE6B78Q46617785-2F695FA6-32BC-4808-8FA0-9D14EB6A37EEQ47597668-1BF49059-5567-4C8C-A9D0-D253B53F3B1FQ47751690-9D82E507-89E6-4CC5-A500-2136066F8919Q47943906-33124C11-9743-46B9-B753-4A26103591B3Q48110705-BB911E7A-EF6B-4EB5-9B7B-181B884FE8EDQ48685368-AED8EA42-C2BC-41D6-AD57-4F1F043AA32CQ52138436-FFAC9004-B686-4622-8545-405EEAE98CEC
P2860
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
TRAPPC9-related autosomal rece ...... utation and clinical phenotype
@en
type
label
TRAPPC9-related autosomal rece ...... utation and clinical phenotype
@en
prefLabel
TRAPPC9-related autosomal rece ...... utation and clinical phenotype
@en
P2093
P2860
P356
P1476
TRAPPC9-related autosomal rece ...... utation and clinical phenotype
@en
P2093
Daniela Orteschi
Filippo Manti
Giovanni Neri
Giuseppe Marangi
Marcella Zollino
Serena Lattante
P2860
P2888
P304
P356
10.1038/EJHG.2012.79
P577
2012-05-02T00:00:00Z