A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset-Reference-Cited by-同舟云学术

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

Published:2021-07-22 Issue:11 Volume:42 Page:4759-4765
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

De Rose Domenico Umberto,Gallini Francesca,Battaglia Domenica Immacolata,Tiberi Eloisa,Gaudino Simona,Contaldo Ilaria,Veredice Chiara,Romeo Domenico Marco,Massimi Luca,Asaro Alessia,Cereda Cristina,Vento Giovanni,Mercuri Eugenio Maria

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-021-05480-z.pdf

Reference27 articles.

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2. Liang TW, Chiu HH, Gurney A et al (2002) Vascular endothelial-junctional adhesion molecule (VE-JAM)/JAM 2 interacts with T, NK, and dendritic cells through JAM 3. J Immun 168:1618–1626

3. Santoso S, Sachs UJH, Kroll H et al (2002) The junctional adhesion molecule 3 (JAM-3) on human platelets is a counterreceptor for the leukocyte integrin Mac-1. J Exp Med 196:679–691

4. Mochida GH, Ganesh VS, Felie JM et al (2010) A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet 87:882–889

5. Akawi NA, Canpolat FE, White SM et al (2013) Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Hum Mutat 34:498–505

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1. JAM3: A prognostic biomarker for bladder cancer via epithelial–mesenchymal transition regulation;Biomolecules and Biomedicine;2024-02-23

2. JAM-C Is Important for Lens Epithelial Cell Proliferation and Lens Fiber Maturation in Murine Lens Development;Investigative Opthalmology & Visual Science;2023-12-14

3. Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease;Frontiers in Pediatrics;2023-09-13

4. Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene;Frontiers in Genetics;2022-10-19

5. Deficiency of Jamc Leads to Congenital Nuclear Cataract and Activates the Unfolded Protein Response in Mouse Lenses;Investigative Opthalmology & Visual Science;2022-09-01