Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These included genes carrying novel deleterious variants, such as the GRM1 gene implicated in spinocerebellar ataxia 44 and the NIPBL gene implicated in Cornelia de Lange syndrome.
|
30367527 |
2019 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Moreover, human fibroblasts from CdLS probands with mutations in NIPBL show reduced BRD4 at co-occupied promoters.
|
31320616 |
2019 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Recently, BRD4 (19p13.12) was proposed as a new critical gene associated with a mild CdLS because of a similar presentation of the patients carrying point mutations and of its involvement in the NIPBL pathway.
|
30302754 |
2019 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We describe patient 1 and patient 2 presenting with characteristics of CdLS with mutations in NIPBL and patient 3 with a frame shift mutation in CREBBP who can be diagnosed as RSTS clinically and also have similar symptoms with CdLS to some extent.
|
30770747 |
2019 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This study reports two novel, intronic NIPBL genetic variants in unrelated CdLS patients with the characteristic phenotype.
|
30606125 |
2019 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21.
|
30614194 |
2019 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is an autosomal dominant genetic disorder caused by pathogenic variants in NIPBL, RAD21, SMC3, HDAC8, or SMC1A; all of which code for proteins that are components of, or interact with, the cohesin complex.
|
30806031 |
2019 |
Cornelia De Lange Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here we discuss the role of somatic mosaicism in CdLS and describe two additional patients with NIPBL mosaicism detected by targeted gene panel or exome sequencing.
|
29155047 |
2018 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NIPBL result in the dysregulation of many genes responsible for normal heart development likely resulting in the variety of structural cardiac defects observed in the CdLS population.
|
29348408 |
2018 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases.
|
29279609 |
2018 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We found that the clinical phenotype associated with BRD4 haploinsufficiency overlapped with that of Cornelia de Lange syndrome (CdLS), which is most often caused by mutation of NIPBL.
|
29379197 |
2018 |
Cornelia De Lange Syndrome
|
0.900 |
Biomarker
|
disease |
CTD_human |
More typical CdLS was observed with a de novo BRD4 missense variant, which retained the ability to coimmunoprecipitate with NIPBL, but bound poorly to acetylated histones.
|
29379197 |
2018 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In 25-30% of CdLS cases no mutation in the known CdLS genes is detected.
|
29261648 |
2017 |
Cornelia De Lange Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Our findings suggest a dynamic model where NIPBL loads cohesin to connect genes in communities, offering an explanation for the gene expression deregulation in the CdLS.
|
28679547 |
2017 |
Cornelia De Lange Syndrome
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
|
28241484 |
2017 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NIPBL are the most frequent cause of Cornelia de Lange syndrome (CdLS), a developmental disorder encompassing several neurological defects, including intellectual disability and seizures.
|
28041881 |
2017 |
Cornelia De Lange Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Compared to children with classic NIPBL-associated CdLS, patients with SMC1A-associated CdLS have a milder physical phenotype with prominent intellectual disability, high rate of cleft palate and absence of limb reductions.
|
28102598 |
2017 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We report on the functional characterization of two intronic NIPBL mutations in two patients with CdLS that do not affect a conserved splice-donor or acceptor site.
|
26925417 |
2016 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a series of 38 patients with a Cornelia de Lange syndrome related to a heterozygous NIPBL mutation identified by Sanger sequencing.
|
26701315 |
2016 |
Cornelia De Lange Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
This study provides insight into the molecular pathology of Cornelia de Lange syndrome by establishing a relationship between NIPBL and HDAC8 mutations and PKR activation.
|
26725122 |
2016 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We include the case of a male with unilateral tibial hypoplasia and peroneal agenesis who had a mutation in NIPBL; we also describe one patient with a mutation in NIPBL and somatic mosaicism identified by new generation sequencing techniques; we also include one patient with CdLS and Turner syndrome; and last, an interesting patient with a duplication of the SMC1A gene.
|
27164022 |
2016 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Levels of NIPBL also correlated with the presence of mutations in different CdLS-causing genes.
|
27125329 |
2016 |
Cornelia De Lange Syndrome
|
0.900 |
Biomarker
|
disease |
BEFREE |
Studies of these mouse and zebrafish CdLS models have helped clarify how deficiency for NIPBL, a protein that associates with cohesin and other transcriptional regulators in the nucleus, affects processes important to the emergence of the structural and physiological birth defects observed in CdLS: NIPBL exerts chromosome position-specific effects on gene expression; it influences long-range interactions between different regulatory elements of genes; and it regulates combinatorial and synergistic actions of genes in developing tissues.
|
27120001 |
2016 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma.
|
26276849 |
2015 |
Cornelia De Lange Syndrome
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings broaden the mutation spectrum of NIPBL and further our understanding of the diverse and variable effects of NIPBL mutations on CdLS.
|
25447906 |
2015 |