Ocular phenotype of Fbn2-null mice. (Q37277186)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130178 AND SRC:MED&resulttype=core&format=json

27 February 2020

title

Ocular phenotype of Fbn2-null mice (English)

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27 February 2020

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4

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27 February 2020

author name string

Yanrong Shi

series ordinal

1

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27 February 2020

Yidong Tu

series ordinal

2

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27 February 2020

Robert P Mecham

series ordinal

3

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27 February 2020

language of work or name

English

0 references

publication date

1 November 2013

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Investigative Ophthalmology Visual Science

27 February 2020

published in

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27 February 2020

volume

54

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27 February 2020

issue

12

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27 February 2020

page(s)

7163-7173

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Microfibril-associated glycoprotein 2 (MAGP2) loss of function has pleiotropic effects in vivo

27 February 2020

cites work

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Generation of Fbn1 conditional null mice implicates the extracellular microfibrils in osteoprogenitor recruitment

6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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6 September 2017

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Growth factor regulation of lens development

6 September 2017

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Proliferation and cell shape changes during ciliary body morphogenesis in the mouse

6 September 2017

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Ocular coloboma: a reassessment in the age of molecular neuroscience

6 September 2017

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Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

6 September 2017

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Bone morphogenetic protein 4 mediates apoptosis of capillary endothelial cells during rat pupillary membrane regression

6 September 2017

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Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma

6 September 2017

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Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype

6 September 2017

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Regulation of limb patterning by extracellular microfibrils

6 September 2017

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Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells

6 September 2017

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Mutation of the gene encoding fibrillin-2 results in syndactyly in mice

6 September 2017

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6 September 2017

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Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system

6 September 2017

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Dosage requirement of Pitx2 for development of multiple organs

6 September 2017

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The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome

6 September 2017

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Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

6 September 2017

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A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

6 September 2017

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The eye in the Marfan syndrome

6 September 2017

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Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

6 September 2017

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Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome

6 September 2017

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Contractural arachnodactyly with mitral regurgitation and iridodonesis

6 September 2017

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Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly

6 September 2017

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Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences

6 September 2017

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New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia

14 September 2017

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A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae

28 September 2017

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Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice

26 June 2018

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Macrophages are required for cell death and tissue remodeling in the developing mouse eye.

26 June 2018

1 reference

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The optic fissure in the normal and microphthalmic mouse

26 June 2018

1 reference

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Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2.

26 June 2018

1 reference

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Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability

3 September 2018

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Ocular findings of Beals syndrome

3 September 2018

1 reference

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Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

3 September 2018

1 reference

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Apoptosis during macrophage-dependent ocular tissue remodelling

3 September 2018

1 reference

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Congenital contractural arachnodactyly. A heritable disorder of connective tissue

3 September 2018

1 reference

12 December 2020

The eye in the Marfan syndrome

1 reference

12 December 2020

Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree

1 reference

12 December 2020

Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities

1 reference

12 December 2020

A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly

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12 December 2020

Regression of the hyaloid vessels and pupillary membrane of the mouse

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12 December 2020

Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities

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12 December 2020

Iris movement mediates vascular apoptosis during rat pupillary membrane regression

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12 December 2020

Congenital hyperplastic persistent pupillary membranes: a conservative approach in management

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12 December 2020

Proteomic analysis of fibrillin-rich microfibrils

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12 December 2020

Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred

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12 December 2020

Identifiers

DOI

10.1167/IOVS.13-12687

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130178 AND SRC:MED&resulttype=core&format=json

27 February 2020

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27 February 2020

PubMed publication ID

24130178

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24130178 AND SRC:MED&resulttype=core&format=json