Cargando…

Postzygotic mosaicism in cerebral cavernous malformation

BACKGROUND: Cerebral cavernous malformations (CCMs) can cause severe neurological morbidity but our understanding of the mechanisms that drive CCM formation and growth is still incomplete. Recent experimental data suggest that dysfunctional CCM3-deficient endothelial cell clones form cavernous lesio...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rath, Matthias, Pagenstecher, Axel, Hoischen, Alexander, Felbor, Ute
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Somatic Mosaicism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042965/ https://www.ncbi.nlm.nih.gov/pubmed/31446422 http://dx.doi.org/10.1136/jmedgenet-2019-106182

Ejemplares similares

Mosaicism and incomplete penetrance of PCDH19 mutations
por: Liu, Aijie, et al.
Publicado: (2019)

A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome
por: Bar, Daniel Z, et al.
Publicado: (2017)

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations
por: Rath, Matthias, et al.
Publicado: (2016)

A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells
por: Pagenstecher, Axel, et al.
Publicado: (2009)

Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial Cells
por: Much, Christiane D., et al.
Publicado: (2021)

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations
por: Pilz, Robin A., et al.
Publicado: (2020)

Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3
por: Schleider, Elisa, et al.
Publicado: (2010)

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations
por: Much, Christiane D., et al.
Publicado: (2019)

An improved protocol for carrot haploid and doubled haploid plant production using induced parthenogenesis and ovule excision in vitro
por: Kiełkowska, Agnieszka, et al.
Publicado: (2014)

Transfer of auxinic herbicide resistance from Brassica kaber to Brassica juncea and Brassica rapa through embryo rescue
por: Mithila, J., et al.
Publicado: (2013)

Autotetraploid plant regeneration by indirect somatic embryogenesis from leaf mesophyll protoplasts of diploid Gentiana decumbens L.f.
por: Tomiczak, Karolina, et al.
Publicado: (2015)

Loss of CCM3 impairs DLL4-Notch signalling: implication in endothelial angiogenesis and in inherited cerebral cavernous malformations
por: You, Chao, et al.
Publicado: (2013)

Navegue en Internet Mosaic
por: Reiss, Levi
Publicado: (1995)

The cerebral cavernous malformations proteins
por: Li, Xiaofeng, et al.
Publicado: (2015)

A Spinal Cavernous Malformation in Multiple Cerebral Cavernous Venous Malformations Syndrome
por: Vangrinsven, Guillaume, et al.
Publicado: (2023)

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
por: Vabres, Pierre, et al.
Publicado: (2019)

First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
por: Alter, Svenja, et al.
Publicado: (2022)

MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals
por: Yang, Xiaoxu, et al.
Publicado: (2020)

Advances in the biology of cerebral cavernous malformations
por: Kivelev, Juri, et al.
Publicado: (2010)

Advances in the biology of cerebral cavernous malformations
por: Hauptman, Jason S., et al.
Publicado: (2010)

Unusual Presentation of Cerebral Cavernous Malformation
por: Kim, Won-Hyung, et al.
Publicado: (2015)

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals
por: Huang, August Y, et al.
Publicado: (2014)

CCM3 and cerebral cavernous malformation disease
por: Wang, Kang, et al.
Publicado: (2019)

Recent advances in cerebral cavernous malformation research
por: Padarti, Akhil, et al.
Publicado: (2018)

Pregnancy Combined with Epilepsy and Cerebral Cavernous Malformation
por: Xu, Ya-Lan, et al.
Publicado: (2017)

Gamma Knife radiosurgery for cerebral cavernous malformation
por: Lee, Cheng-Chia, et al.
Publicado: (2019)

Cerebral Cavernous Malformations: The Importance of Cutaneous Manifestations
por: Vázquez-Osorio, Igor, et al.
Publicado: (2021)

Cervical Cord Hemorrhage in Cerebral Cavernous Malformations
por: Wang, Zhanjun, et al.
Publicado: (2021)

Tailored Treatment Options for Cerebral Cavernous Malformations
por: Hoffman, Jessa E., et al.
Publicado: (2022)

Cerebral Cavernous Malformation: Immune and Inflammatory Perspectives
por: Tu, Tianqi, et al.
Publicado: (2022)

Dysregulated Hemostasis and Immunothrombosis in Cerebral Cavernous Malformations
por: Globisch, Maria Ascencion, et al.
Publicado: (2022)

Role of pericytes in the development of cerebral cavernous malformations
por: Dai, Zifeng, et al.
Publicado: (2022)

Immunothrombosis and vascular heterogeneity in cerebral cavernous malformation
por: Globisch, Maria A., et al.
Publicado: (2022)

Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs)
por: Nicholas-Bublick, Selena, et al.
Publicado: (2015)

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
por: Latorre-Pellicer, Ana, et al.
Publicado: (2021)

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors
por: Spiegler, Stefanie, et al.
Publicado: (2014)

Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
por: Wright, C. F., et al.
Publicado: (2019)

MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples
por: Huang, August Yue, et al.
Publicado: (2017)

Cerebral Cavernous Malformation Proteins in Barrier Maintenance and Regulation
por: Wei, Shu, et al.
Publicado: (2020)

Signalling through cerebral cavernous malformation protein networks
por: Su, Valerie L., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_9s2emoqamnp7dod01i3e0mnrqh