Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum (Q34296921)

1 August 2017

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title

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum (English)

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1 August 2017

Mikhail Kagan

17

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Corinne Antignac

object named as

Corinne Antignac

37

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Martin Zenker

38

object named as

Martin Zenker

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1 August 2017

4

Lihadh Al-Gazali

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1 August 2017

Iwona Maruniak-Chudek

11

object named as

Iwona Maruniak-Chudek

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1 August 2017

34

Aleksandra Zurowska

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1 August 2017

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Patrick Niaudet

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1 August 2017

Verena Matejas

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1 August 2017

Bernward Hinkes

2

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1 August 2017

Faisal Alkandari

3

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1 August 2017

Ellen Annexstad

5

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1 August 2017

Mehmet B Aytac

6

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1 August 2017

Margaret Barrow

7

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1 August 2017

Kveta Bláhová

8

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1 August 2017

Detlef Bockenhauer

9

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1 August 2017

Hae Il Cheong

10

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1 August 2017

Pierre Cochat

12

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1 August 2017

Jörg Dötsch

13

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1 August 2017

Priya Gajjar

14

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1 August 2017

Raoul C Hennekam

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1 August 2017

Françoise Janssen

16

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1 August 2017

Ariana Kariminejad

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1 August 2017

Markus J Kemper

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1 August 2017

Jens Koenig

20

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1 August 2017

Jillene Kogan

21

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1 August 2017

Hester Y Kroes

22

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1 August 2017

Eberhard Kuwertz-Bröking

23

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1 August 2017

Amy F Lewanda

24

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1 August 2017

Ana Medeira

25

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1 August 2017

Jutta Muscheites

26

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1 August 2017

Michel Pierson

28

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1 August 2017

Anand Saggar

29

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1 August 2017

Laurie Seaver

30

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1 August 2017

Mohnish Suri

31

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1 August 2017

Alexey Tsygin

32

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1 August 2017

Elke Wühl

33

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1 August 2017

Steffen Uebe

35

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1 August 2017

Friedhelm Hildebrandt

36

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1 August 2017

language of work or name

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1 September 2010

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1 August 2017

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1 August 2017

31

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1 August 2017

992-1002

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1 August 2017

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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Variable phenotype of Pierson syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Translational readthrough induction of pathogenic nonsense mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Laminin functions in tissue morphogenesis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Laminins: structure and genetic regulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Laminin polymerization induces a receptor-cytoskeleton network

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Mapping of a congenital microcoria locus to 13q31-q32

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

The functions of laminins: lessons from in vivo studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Self-assembly and calcium-binding sites in laminin. A three-arm interaction model

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Laminin chain assembly. Specific sequences at the C terminus of the long arm are required for the formation of specific double- and triple-stranded coiled-coil structures

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin beta 2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Management of congenital nephrotic syndrome of the Finnish type

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Congenital microcephaly, hiatus hernia and nephrotic syndrome: an autosomal recessive syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Ophthalmological aspects of Pierson syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

A milder variant of Pierson syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Diffuse mesangial sclerosis: association with unreported congenital anomalies and placental enlargement.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

[AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY.]

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2978072

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome

9 December 2018

1 reference

12 December 2020

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago

1 reference

12 December 2020

Pierson syndrome: a novel cause of congenital nephrotic syndrome

1 reference

12 December 2020

A syndrome comprising childhood-onset glomerular kidney disease and ocular abnormalities with progressive loss of vision is caused by mutated LAMB2

1 reference

12 December 2020

Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/HUMU.21304

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1 August 2017

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1 August 2017

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