(Q34521539)

2 August 2017

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein (English)

1 reference

delta14-sterol reductase activity

2 August 2017

1 reference

GOA release 2020-03-11

1 reference

hydrops-ectopic calcification-moth-eaten skeletal dysplasia

GOA release 2020-03-11

membrane protein

1 reference

based on heuristic

inferred from title

1 reference

19

Sigmar Stricker

0 references

Stefan Mundlos

18

object named as

Stefan Mundlos

1 reference

2 August 2017

Ilja Demuth

14

0 references

Björn Fischer-Zirnsak

1 reference

ORCID Public Data File 2021

Sevjidmaa Baasanjav

8

object named as

Sevjidmaa Baasanjav

1 reference

2 August 2017

Peter Clayton

1

1 reference

2 August 2017

Björn Fischer

2

1 reference

2 August 2017

Anuska Mann

3

1 reference

2 August 2017

Sahar Mansour

4

1 reference

2 August 2017

Eva Rossier

5

1 reference

2 August 2017

Markus Veen

6

1 reference

2 August 2017

Christine Lang

7

1 reference

2 August 2017

Moritz Kieslich

9

1 reference

2 August 2017

Katja Brossuleit

10

1 reference

2 August 2017

Sophia Gravemann

11

1 reference

2 August 2017

Nele Schnipper

12

1 reference

2 August 2017

Mohsen Karbasyian

13

1 reference

2 August 2017

Monika Zwerger

15

1 reference

2 August 2017

Amparo Vaya

16

1 reference

2 August 2017

Gerd Utermann

17

1 reference

2 August 2017

Karl Sperling

20

1 reference

2 August 2017

Katrin Hoffmann

21

1 reference

2 August 2017

language of work or name

English

0 references

publication date

21 May 2010

1 reference

2 August 2017

1 reference

2 August 2017

1

1 reference

2 August 2017

4

1 reference

2 August 2017

354-366

1 reference

The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils

2 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Recent advances in antifungal agents

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

"Laminopathies": a wide spectrum of human diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Lamin B receptor plays a role in stimulating nuclear envelope production and targeting membrane vesicles to chromatin during nuclear envelope assembly through direct interaction with importin beta

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

The granulocyte nucleus and lamin B receptor: avoiding the ovoid

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Human laminopathies: nuclei gone genetically awry

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Defects of cholesterol biosynthesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Sterol dependent regulation of human TM7SF2 gene expression: role of the encoded 3beta-hydroxysterol Delta14-reductase in human cholesterol biosynthesis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Nuclear envelope, nuclear lamina, and inherited disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

The nuclear lamina comes of age.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

The lamin B receptor of Drosophila melanogaster

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Dynamic interactions of nuclear lamina proteins with chromatin and transcriptional machinery

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes

7 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

7 July 2018

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Life at the edge: the nuclear envelope and human disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Skinny hedgehog, an acyltransferase required for palmitoylation and activity of the hedgehog signal

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Mutations in the human DHCR7 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Role of cholesterol in embryonic development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Genetic defects in postsqualene cholesterol biosynthesis.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

The human lamin B receptor/sterol reductase multigene family

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Cholesterol modification of hedgehog signaling proteins in animal development

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

The amino-terminal domain of the lamin B receptor is a nuclear envelope targeting signal

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

A new autosomal recessive lethal chondrodystrophy with congenital hydrops

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

The lethal osteochondrodysplasias

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

The lamin B receptor of the inner nuclear membrane undergoes mitosis-specific phosphorylation and is a substrate for p34cdc2-type protein kinase

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

A progeroid syndrome in mice is caused by defects in A-type lamins

7 July 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Abnormal cholesterol biosynthesis as in Smith-Lemli-Opitz syndrome disrupts normal skeletal development in the rat.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Differential azole antifungal efficacies contrasted using a Saccharomyces cerevisiae strain humanized for sterol 14 alpha-demethylase at the homologous locus

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Combined overexpression of genes of the ergosterol biosynthetic pathway leads to accumulation of sterols in

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature

21 January 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

Effect of maternal hypercholesterolemia on fetal sterol metabolism in the Golden Syrian hamster.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Detailed ultrasonographic findings in Greenberg dysplasia.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3027044

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly

27 October 2018

1 reference

https://api.crossref.org/works/10.4161%2FNUCL.1.4.12435

21 January 2018

Identifiers

DOI

10.4161/NUCL.1.4.12435

1 reference

2 August 2017

1 reference

2 August 2017

1 reference