Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LBR is also associated with the autosomal recessive anadysplasia-like spondylometaphyseal dysplasia, and the autosomal dominant Pelger-Huët anomaly, a benign laminopathy characterized by anomalies in the nuclear shape of blood granulocytes.
|
30561119 |
2019 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in LBR are associated with marked phenotypic variability, ranging from the benign Pelger-Huët anomaly to lethal Greenberg Dysplasia.
|
30448303 |
2019 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hyposegmentation can be due to mutations in the LBR-gene (Pelger-Huët-Anomaly) or can be induced, for example, by colchicine treatment.
|
27684937 |
2017 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations within the transmembrane segments result in defects in cholesterol synthesis and are associated with diseases such as the Pelger-Huët anomaly and Greenberg skeletal dysplasia, whereas no such harmful mutations related to the anchoring properties of LBR have been reported so far.
|
28858257 |
2017 |
Pelger-Huet Anomaly
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
Therefore, P. entomophila can be used to synthesize the whole range of PHA (C7-C14) homopolymers, random- and block copolymers.
|
28128887 |
2017 |
Pelger-Huet Anomaly
|
1.000 |
Biomarker
|
disease |
BEFREE |
LBR mutant derivatives implicated in Greenberg skeletal dysplasia or Pelger-Huët anomaly fail to rescue the cholesterol auxotrophy of a LBR-deficient human cell line, consistent with a loss-of-function mechanism for these congenital disorders.
|
27336722 |
2016 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the LBR gene can affect neutrophil segmentation and sterol reductase activity and have been associated with two different recognized clinical conditions, Pelger-Huet anomaly (PHA) and Greenberg skeletal dysplasia.
|
23824842 |
2013 |
Pelger-Huet Anomaly
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the LBR gene can affect neutrophil segmentation and sterol reductase activity and have been associated with two different recognized clinical conditions, Pelger-Huet anomaly (PHA) and Greenberg skeletal dysplasia.
|
23824842 |
2013 |
Pelger-Huet Anomaly
|
1.000 |
Biomarker
|
disease |
BEFREE |
In humans, a genetic deficiency of LBR produces Pelger-Huët anomaly, resulting in blood neutrophils that exhibit hypolobulated nuclei with redistributed heterochromatin.
|
21327094 |
2012 |
Pelger-Huet Anomaly
|
1.000 |
Biomarker
|
disease |
BEFREE |
This review summarizes the history of PHA and the current knowledge of the functions of the LBR.
|
22338047 |
2012 |
Pelger-Huet Anomaly
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In the present study, we have investigated the hypothesis that the NM irregularities in PTC might be linked to alterations in the expression of lamin B receptor (LBR), a component of the inner NM responsible for the distribution of Lamin B and associated chromatin.Fisher AH et al. already reported on the lack of LBR in PTC, a finding in contrast with the observation that a reduced expression of LBR because of gene mutation is responsible for the lack of nuclear segmentation of granulocytes in Pelger-Huët anomaly.
|
21103616 |
2010 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LBR result in Pelger-Huët anomaly and HEM-Greenberg skeletal dysplasia, whereas in mice Lbr mutations result in ichthyosis.
|
18621876 |
2008 |
Pelger-Huet Anomaly
|
1.000 |
Biomarker
|
disease |
MGD |
HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.
|
17403717 |
2007 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PHA has been recently linked to the gene encoding the lamin B receptor, located at chromosome 1q41-43.
|
16007606 |
2006 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Lamin B-receptor mutations in Pelger-Huët anomaly.
|
14617022 |
2003 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LBR recently have been reported also to cause Pelger-Huët anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes.
|
12618959 |
2003 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We recently found that human PHA is caused by mutations in the gene (LBR) encoding lamin B receptor, an evolutionarily conserved inner nuclear membrane protein involved in nuclear assembly and chromatin binding.
|
12490533 |
2003 |
Pelger-Huet Anomaly
|
1.000 |
Biomarker
|
disease |
BEFREE |
The LBR gene (LBR) was also sequenced from a single English man with Pelger-Huët anomaly and a heterozygous C-->G mutation was found in codon 569 of exon 14, predicted to cause a proline-->arginine.
|
14617022 |
2003 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
|
12118250 |
2002 |
Pelger-Huet Anomaly
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).
|
12118250 |
2002 |
Pelger-Huet Anomaly
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Pelger-Huet Anomaly
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
HEM dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in LBR are associated with marked phenotypic variability, ranging from the benign Pelger-Huët anomaly to lethal Greenberg Dysplasia.
|
30448303 |
2019 |
HEM dysplasia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on a novel LBR missense variant [c.1379A>G; p.(D460R)], identified by whole exome sequencing and causing Greenberg dysplasia in two fetuses from a consanguineous Moroccan family.
|
30561119 |
2019 |