Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area (Q56880536)

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English	Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area	article

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scholarly article

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Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area (English)

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genome-wide association study

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Chiea Chuen Khor

object named as

Chiea Chuen Khor

1

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object named as

Mark Seielstad

17

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Caroline C Klaver

object named as

Caroline C.W. Klaver

20

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Martin L. Hibberd

object named as

Martin Hibberd

18

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Fernando Rivadeneira

object named as

Fernando Rivadeneira

14

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7

object named as

Seang-Mei Saw

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Cornelia M. van Duijn

24

object named as

Cornelia M. van Duijn

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25

object named as

Tin Aung

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author name string

Wishal D. Ramdas

2

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Eranga N. Vithana

3

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Belinda K. Cornes

4

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Xueling Sim

5

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Wan-Ting Tay

6

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Yingfeng Zheng

8

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Raghavan Lavanya

9

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Renyi Wu

10

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Jie Jin Wang

11

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Paul Mitchell

12

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André G. Uitterlinden

13

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Yik-Ying Teo

15

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Kee-Seng Chia

16

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Johannes R. Vingerling

19

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Nomdo M. Jansonius

21

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E-Shyong Tai

22

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Tien-Yin Wong

23

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publication date

9 February 2011

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Human Molecular Genetics

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20

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9

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1864-1872

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The number of people with glaucoma worldwide in 2010 and 2020

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Optic disk size in open-angle glaucoma: the Blue Mountains Eye Study

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Increased disk size in glaucomatous eyes vs normal eyes in the Reykjavik eye study

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Optic disk size correlated with refractive error

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Optic disc size in a population based study in northern China: the Beijing Eye Study

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Size of the physiologic cup of the optic nerve head. hereditary and environmental factors

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Determinants and heritability of intraocular pressure and cup-to-disc ratio in a defined older population

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Genetic contributions to glaucoma: heritability of intraocular pressure, retinal nerve fiber layer thickness, and optic disc morphology

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Heritability of risk factors for primary open-angle glaucoma: the Beaver Dam Eye Study.

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A genome-wide association study of optic disc parameters

1 reference

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Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

1 reference

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Differences in optic disc topography between black and white normal subjects

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Racial differences in optic disc topography: baseline results from the confocal scanning laser ophthalmoscopy ancillary study to the ocular hypertension treatment study

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Race-, age-, gender-, and refractive error-related differences in the normal optic disc

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The epidemiology of age related eye diseases in Asia

1 reference

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Card10 is a novel caspase recruitment domain/membrane-associated guanylate kinase family member that interacts with BCL10 and activates NF-kappa B

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Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32)

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Equine herpesvirus-2 E10 gene product, but not its cellular homologue, activates NF-kappaB transcription factor and c-Jun N-terminal kinase

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c-E10 is a caspase-recruiting domain-containing protein that interacts with components of death receptors signaling pathway and activates nuclear factor-kappaB

1 reference

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21 January 2018

CIPER, a novel NF kappaB-activating protein containing a caspase recruitment domain with homology to Herpesvirus-2 protein E10

1 reference

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CLAP, a novel caspase recruitment domain-containing protein in the tumor necrosis factor receptor pathway, regulates NF-kappaB activation and apoptosis

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Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types

1 reference

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Bcl10 is a positive regulator of antigen receptor-induced activation of NF-kappaB and neural tube closure

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR060

21 January 2018

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR060

21 January 2018

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR060

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Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

1 reference

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Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondria

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Release of OPA1 during apoptosis participates in the rapid and complete release of cytochrome c and subsequent mitochondrial fragmentation.

1 reference

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Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis

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Emerging functions of mammalian mitochondrial fusion and fission

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OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR060

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Dual roles of NF-kappaB in cell survival and implications of NF-kappaB inhibitors in neuroprotective therapy

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New insights into the role of nuclear factor-kB in cell growth regulation

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Glaucoma: genes, phenotypes, and new directions for therapy

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The heritability of ocular traits

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The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness

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Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

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Gene mapping for primary open angle glaucoma

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Genetic etiologies of glaucoma

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Rationale and methodology for a population-based study of eye diseases in Malay people: The Singapore Malay eye study (SiMES).

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Methodology of the Singapore Indian Chinese Cohort (SICC) eye study: quantifying ethnic variations in the epidemiology of eye diseases in Asians

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The Rotterdam Study: 2010 objectives and design update

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Diagnostic ability of Heidelberg Retina Tomography in detecting glaucoma in a population setting: the Singapore Malay Eye Study

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Distribution of ocular perfusion pressure and its relationship with open-angle glaucoma: the singapore malay eye study

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Measurement variability in digital analysis of optic discs

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PLINK: a tool set for whole-genome association and population-based linkage analyses

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Principal components analysis corrects for stratification in genome-wide association studies

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Haploview: analysis and visualization of LD and haplotype maps

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LDL-cholesterol concentrations: a genome-wide association study

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Identifiers

10.1093/HMG/DDR060

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