Null mutations in LTBP2 cause primary congenital glaucoma (Q37189121)

18 August 2017

Null mutations in LTBP2 cause primary congenital glaucoma (English)

1 reference

18 August 2017

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24

Chris F Inglehearn

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Carmel Toomes

19

Carmel Toomes

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David Parry

David A Parry

4

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David A. Mackey

David A Mackey

21

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Luba Kalaydjieva

22

Luba Kalaydjieva

1 reference

18 August 2017

20

Jamie Craig

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18 August 2017

Manir Ali

1

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18 August 2017

Martin McKibbin

2

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18 August 2017

Adam Booth

3

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18 August 2017

Payal Jain

5

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18 August 2017

S Amer Riazuddin

6

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18 August 2017

J Fielding Hejtmancik

7

1 reference

18 August 2017

Shaheen N Khan

8

1 reference

18 August 2017

Sabika Firasat

9

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18 August 2017

Mike Shires

10

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18 August 2017

David F Gilmour

11

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18 August 2017

Katherine Towns

12

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18 August 2017

Anna-Louise Murphy

13

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18 August 2017

Dimitar Azmanov

14

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18 August 2017

Ivailo Tournev

15

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18 August 2017

Sylvia Cherninkova

16

1 reference

18 August 2017

Hussain Jafri

17

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18 August 2017

Yasmin Raashid

18

1 reference

18 August 2017

Sheikh Riazuddin

23

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18 August 2017

language of work or name

English

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publication date

9 April 2009

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American Journal of Human Genetics

18 August 2017

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18 August 2017

84

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18 August 2017

5

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18 August 2017

664-671

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Primary congenital glaucoma localizes to chromosome 14q24.2-24.3 in two consanguineous Pakistani families.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Complex genetics of complex traits: the case of primary open-angle glaucoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Primary congenital glaucoma: 2004 update

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Mutation history of the roma/gypsies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Latent Transforming Growth Factor-β-binding Protein 2 Is an Adhesion Protein for Melanoma Cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Developmental expression of latent transforming growth factor beta binding protein 2 and its requirement early in mouse development

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

The development of the trabecular meshwork and its abnormality in primary infantile glaucoma

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

TGF-beta 1 binding protein: a component of the large latent complex of TGF-beta 1 with multiple repeat sequences

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Glaucoma in the Marfan syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Effects of pilocarpine on the morphology of the human outflow apparatus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Role of transforming growth factor-beta1 and its latent form binding protein in pseudoexfoliation syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Fahr disease: report of a family and a review.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Identification of LTBP2 on chromosome 14q as a novel candidate gene for bone mineral density variation and fracture risk association

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Genome-wide scan for adult onset primary open angle glaucoma

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Flow of aqueous humor in the canal of Schlemm

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Observations on the Development of the Anterior Chamber Angle with Reference to the Pathogenesis of Congenital Glaucomas

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Genomewide scan and fine mapping of quantitative trait loci for intraocular pressure on 5q and 14q in West Africans

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Mouse latent TGF-beta binding protein-2: molecular cloning and developmental expression

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

World Glaucoma Day, 6 March 2008: tackling the glaucoma pandemic

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680998

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

20 October 2018

1 reference

12 December 2020

Population-based assessment of childhood blindness in southern India

1 reference

12 December 2020

Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies

1 reference

12 December 2020

A genome-wide scan for primary open-angle glaucoma (POAG): the Barbados Family Study of Open-Angle Glaucoma

1 reference

12 December 2020

Partial trisomy 14 following a balanced reciprocal translocation t(14q-;21q+)

1 reference

12 December 2020

Congenital glaucoma and its inheritance

1 reference

12 December 2020

Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset

1 reference

12 December 2020

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

1 reference

12 December 2020

10.1016/J.AJHG.2009.03.017

Identifiers

DOI

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

19361779

1 reference