Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy (Q28253929)

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12 January 2020

title

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy (English)

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12 January 2020

main subject

nail-patella syndrome

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11

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12 January 2020

Hans van Bokhoven

14

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16

Lies H Hoefsloot

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12 January 2020

18

Nine V A M Knoers

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12 January 2020

3

Elena Levtchenko

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12 January 2020

1

Ernie M H F Bongers

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12 January 2020

author name string

Frans T Huysmans

2

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12 January 2020

Jacky W de Rooy

4

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12 January 2020

Johan G Blickman

5

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12 January 2020

Ronald J C Admiraal

6

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12 January 2020

Patrick L M Huygen

7

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12 January 2020

Johannes R M Cruysberg

8

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12 January 2020

Pauline A M P Toolens

9

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Judith B Prins

10

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George F Borm

12

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12 January 2020

Jeroen Schoots

13

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12 January 2020

Angela M F van Remortele

15

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12 January 2020

Albert van Kampen

17

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12 January 2020

language of work or name

English

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publication date

1 August 2005

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European Journal of Human Genetics

12 January 2020

published in

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12 January 2020

volume

13

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12 January 2020

issue

8

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12 January 2020

page(s)

935-946

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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

12 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Multiple calvarial defects in lmx1b mutant mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Transcriptional induction of slit diaphragm genes by Lmx1b is required in podocyte differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Lmx1b is essential for the development of serotonergic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Lmx1b controls the differentiation and migration of the superficial dorsal horn neurons of the spinal cord

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

A second independent pathway for development of mesencephalic dopaminergic neurons requires Lmx1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Cosegregation of open-angle glaucoma and the nail-patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Nail patella syndrome: a review of the phenotype aided by developmental biology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Prediction of creatinine clearance from serum creatinine

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

EuroQol: the current state of play

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Nail-patella syndrome. Overview on clinical and molecular findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Variations in population health status: results from a United Kingdom national questionnaire survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Cardiovascular Risk Factors Are Differently Associated with Urinary Albumin Excretion in Men and Women

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Albuminuria and risk of cardiovascular events, death, and heart failure in diabetic and nondiabetic individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

The relationship between intraocular pressure and glaucoma in a defined population. Data from the Egna-Neumarkt Glaucoma Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Collagen distribution in the lamina cribrosa and the trabecular meshwork of the human eye

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Sensorineural hearing loss and nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Mutation analysis of LMX1B gene in nail-patella syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Nail-patella syndrome: evidence for modification by alleles at the main locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

Molecular cytogenetic detection of 9q34 breakpoints associated with nail patella syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

7 January 2021

Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

7 January 2021

Further families showing linkage between the ABO and nail-patella loci, with no evidence of heterogeneity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

7 January 2021

Psychometric properties of the Beck Depression Inventory: Twenty-five years of evaluation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

7 January 2021

HEREDITARY OSTEO-ONYCHO-DYSPLASIA (HOOD)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

7 January 2021

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201446

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201446

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15928687%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

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