Discover Community Create You

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

Article

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

American journal of medical genetics. Part A - 1 Aug 2013

Borovik Lior, Modaff Peggy, Waterham Hans R, Krentz Anthony D, Pauli Richard M

Abstract excerpt

The Lamin B receptor (LBR) gene has been described to encode a bifunctional protein. 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. PHA is a benign autosomal co-dominant laminopathy resulting in bilobed neutrophil nuclei in...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Heterozygote
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neutrophils

Share to Osteochondrodysplasias

Share to Phenotype

Share to Receptors, Cytoplasmic and Nuclear

Source

Identifiers

PMID: 23824842
DOI: 10.1002/ajmg.a.36019

Genes

LBR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.PMID 23824842Read ↗

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).Semantic proximity Read ↗

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.Semantic proximity Read ↗

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.Semantic proximity Read ↗

Understanding and recognizing the Pelger-Huët anomaly.Semantic proximity Read ↗

Deletion of LBR N-terminal domains recapitulates Pelger-Huet anomaly phenotypes in mouse without disrupting X chromosome inactivation.Semantic proximity Read ↗

Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.Semantic proximity Read ↗

An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.Semantic proximity Read ↗

The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.Semantic proximity Read ↗

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.Semantic proximity Read ↗

Autosomal recessive hyposegmentation of granulocytes in Australian Shepherd Dogs indicates a role for LMBR1L in myeloid leukocytes.Semantic proximity Read ↗

Benign anomaly to malign dysplasia: variable expression of lamin B receptor mutations in humans.Semantic proximity Read ↗

Inherited biallelic CSF3R mutations in severe congenital neutropeniaSemantic proximity Read ↗

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