4.6 Article

Deficiency of Jamc Leads to Congenital Nuclear Cataract and Activates the Unfolded Protein Response in Mouse Lenses

Related references

Note: Only part of the references are listed.
Article Ophthalmology

Inherited cataracts: Genetic mechanisms and pathways new and old

Alan Shiels et al.

Summary: Cataracts are caused by protein aggregation or disruption of lens microarchitecture, and genetic mutations can provide insights into lens homeostasis. Congenital cataracts involve severe damage to lens proteins, while age-related cataracts are more susceptible to environmental insults, leading to different pathologies.

EXPERIMENTAL EYE RESEARCH (2021)

Article Clinical Neurology

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset

Domenico Umberto De Rose et al.

Summary: Mutations in the JAM3 gene are associated with HDBSCC and DEE, with implications for perinatal and postnatal management and genetic counseling. This study also reports the first case of a child with a JAM3 variant in Italy, from a different ethnic background.

NEUROLOGICAL SCIENCES (2021)

Article Ophthalmology

Molecular genetics of congenital cataracts

Jinyu Li et al.

EXPERIMENTAL EYE RESEARCH (2020)

Review Biochemistry & Molecular Biology

Quality Control in the Endoplasmic Reticulum: Crosstalk between ERAD and UPR pathways

Jiwon Hwang et al.

TRENDS IN BIOCHEMICAL SCIENCES (2018)

Article Genetics & Heredity

Untitled

HUMAN MUTATION (2018)

Review Ophthalmology

Pediatric cataract

Sudarshan Kumar Khokhar et al.

INDIAN JOURNAL OF OPHTHALMOLOGY (2017)

Article Medicine, Research & Experimental

Neuronal Expression of Junctional Adhesion Molecule-C is Essential for Retinal Thickness and Photoreceptor Survival

Y. Li et al.

CURRENT MOLECULAR MEDICINE (2017)

Article Biochemistry & Molecular Biology

Autophagy and UPR in alpha-crystallin mutant knock-in mouse models of hereditary cataracts

Usha P. Ley et al.

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS (2016)

Article Biochemistry & Molecular Biology

Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells

Zhiwei Ma et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2016)

Article Biochemistry & Molecular Biology

Lens ER-stress response during cataract development in Mip-mutant mice

Yuefang Zhou et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2016)

Article Developmental Biology

The cellular and molecular mechanisms of vertebrate lens development

Ales Cvekl et al.

DEVELOPMENT (2014)

Article Ophthalmology

The unfolded protein response is activated in connexin 50 mutant mouse lenses

Bhagwat V. Alapure et al.

EXPERIMENTAL EYE RESEARCH (2012)

Article Ophthalmology

Activation of Unfolded Protein Response in Transgenic Mouse Lenses

Lixing W. Reneker et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

Article Ophthalmology

Overexpression of Human γC-crystallin 5 bp Duplication Disrupts Lens Morphology in Transgenic Mice

Zhiwei Ma et al.

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)

Article Medicine, Research & Experimental

Gap Junctions or Hemichannel-Dependent and Independent Roles of Connexins in Cataractogenesis and Lens Development

J. X. Jiang

CURRENT MOLECULAR MEDICINE (2010)

Review Biochemistry & Molecular Biology

Cellular responses to endoplasmic reticulum stress and apoptosis

Vanya I. Rasheva et al.

APOPTOSIS (2009)

Review Ophthalmology

The mechanisms of calcium homeostasis and signalling in the lens

Jeremy D. Rhodes et al.

EXPERIMENTAL EYE RESEARCH (2009)

Review Ophthalmology

On the mechanism of organelle degradation in the vertebrate lens

Steven Bassnett

EXPERIMENTAL EYE RESEARCH (2009)

Article Biochemistry & Molecular Biology

Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract

Zeynep Firtina et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

Article Hematology

Platelets recruit human dendritic cells via Mac-1/JAM-C interaction and modulate dendritic cell function in vitro

Harald F. Langer et al.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2007)

Review Developmental Biology

Growth factor regulation of lens development

FJ Lovicu et al.

DEVELOPMENTAL BIOLOGY (2005)

Article Multidisciplinary Sciences

Nuclear cataract caused by a lack of DNA degradation in the mouse eye lens

S Nishimoto et al.

NATURE (2003)