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Altered DNA methylation (zeige HELLS Proteine) in IL1RAPL1 involves in the etiology of Bipolar disorder and Major Depressive disorder .
rs12007907 variant in IL1RAPL gene was negatively associated with asthma and IL-13 (zeige IL13 Proteine) production in Latin American children.
Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype
It was indicated that a defect in IL1RAPL1 that controls excitatory synapsis formation results in the excitation-inhibition balance affecting various cerebral functions.
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
The interaction of the IL1RAPL1 family of proteins with PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling.
The IL1RAPL1 gene is of interest as a candidate gene for autism spectrum disorder as mutations or deletions in the gene have previously been reported in individuals from families with ASD (zeige ARSD Proteine).
Nearly all patients with deletions involving DAX1 (zeige NR0B1 Proteine), but not DMD (zeige DMD Proteine), had mental retardation if IL1RAPL1 was deleted. If ILIRAPLI & DMD (zeige DMD Proteine) were intact, the patients with DAX1 (zeige NR0B1 Proteine) deletions only rarely had normal development.
Report confirms the role of the IL1RAPL1 gene in causing nonspecific mental retardation in males.
DMD (zeige DMD Proteine) gene and its immediately distal neighbor, the 1.8 Mb IL1RAPL1 gene are abundantly expressed in normal brain but were dramatically underexpressed in every brain tumor cell line and xenograft.
Here we show that the X-linked intellectual disability protein interleukin-1 receptor accessory protein like 1 (IL1RAPL1) regulates dendrite morphology of mice hippocampal neurons and induced pluripotent stem cell-derived neurons from a patient carrying a null mutation of IL1RAPL1 gene.
These results thus reveal the decoding mechanism of splice-insert signaling codes for synaptic differentiation induced by trans-synaptic adhesion between PTPdelta and IL1RAPL1/IL-1RAcP (zeige IL1RAP Proteine).
These results suggest that IL1RAPL1 ablation resulted in spine density decrease and affected not only learning but also behavioural flexibility, locomotor activity and anxiety.
IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA (zeige RHOA Proteine) signaling pathway.
the results of this study suggested that constitutive absence of Il1rapl1 disrupts this balance, possibly explaining the deficit in LTP (zeige SCP2 Proteine) induction in vivo and the behavioral deficits observed in KO mice.
results suggest that IL1RAPL1 mediates synapse formation through trans-synaptic interaction with PTPdelta.
Absence of IL1RAPL1 causes a transient disinhibition of deep cerebellar nuclei neurons between postnatal days 10 and 14.
The protein encoded by this gene is a member of the interleukin 1 receptor family and is similar to the interleukin 1 accessory proteins. It is most closely related to interleukin 1 receptor accessory protein-like 2 (IL1RAPL2). This gene and IL1RAPL2 are located at a region on chromosome X that is associated with X-linked non-syndromic mental retardation. Deletions and mutations in this gene were found in patients with mental retardation. This gene is expressed at a high level in post-natal brain structures involved in the hippocampal memory system, which suggests a specialized role in the physiological processes underlying memory and learning abilities.
interleukin 1 receptor accessory protein-like 1
, X-linked interleukin-1 receptor accessory protein-like 1
, interleukin 1 receptor-8
, interleukin-1 receptor accessory protein-like 1
, mental retardation, X-linked 10
, three immunoglobulin domain-containing IL-1 receptor-related 2