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研究分野生物医学と臨床科学心血管医学と血液学心臓病 (心血管疾患を含む)
COL4A1 と COL4A2 の遺伝子複製またはトリプリケーションが,大人の小血管疾患の遺伝的原因である

COL4A1 と COL4A2 の遺伝子複製またはトリプリケーションが,大人の小血管疾患の遺伝的原因である

Dominique Hervé ^1,2, Saskia A J Lesnik Oberstein ³, Eva Pipiras ⁴, Steven J Kittner ⁵, Dimitri Renard ⁶, Hélène Morel ⁷, Françoise Bergametti ², Michaelle Corpechot ⁷, Esther A R Nibbeling ³, Gwenola Boulday ⁸, Stéphanie Guey ^1,2, Chaker Aloui ⁸, Hugues Chabriat ^1,2, Elisabeth Tournier-Lasserve ^2,8, Thibault Coste ^7,2

Dominique Hervé ^1,2, Saskia A J Lesnik Oberstein ³, Eva Pipiras ⁴

¹CERVCO-CNVT, Lariboisière Hospital (D.H., S.G., H.C.), AP-HP, Paris, France.
²Université Paris Cité, France (D.H., F.B., S.G., H.C., E.T.-L., T.C.).
³Department of Clinical Genetics, Leiden University Medical Center, the Netherlands (S.A.J.L.O., E.A.R.N.).
⁴UF Médecine Génomique et Génétique Clinique, Hôpital Jean Verdier, et UF de Génomique du Développement et de la Reproduction, Hôpital Pitié Salpêtrière, Université Sorbonne Paris Nord et Sorbonne-Paris, UMR 1141 INSERM, France (E.P.).
⁵Department of Neurology, University of Maryland School of Medicine, Baltimore (S.J.K.).
⁶Department of Neurology, CHU Nîmes, Université Montpellier, Nîmes, France (D.R.).
⁷Department of Genetics, Bichat Claude-Bernard Hospital (H.M., M.C., T.C.), AP-HP, Paris, France.
⁸Paris Brain Institute (ICM), INSERM UMR1127, Sorbonne University, Paris, France (G.B., C.A., E.T.-L.).

⁰CERVCO-CNVT, Lariboisière Hospital (D.H., S.G., H.C.), AP-HP, Paris, France.

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2026年1月2日

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em data-lazy-src=

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

Isolation and Cannulation of Cerebral Parenchymal Arterioles

Isolation and Cannulation of Cerebral Parenchymal Arterioles

Published on: May 23, 2016

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まとめ

No abstract available on PubMed

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動脈細胞地下層膜毛細血管核家族ストローク,ラキュナル

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自動的に一致したビデオです Contact us もしそれらが関連していない場合

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and <em>In Utero</em> Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

Isolation and Cannulation of Cerebral Parenchymal Arterioles

Isolation and Cannulation of Cerebral Parenchymal Arterioles

Published on: May 23, 2016

See all related videos

関連する概念動画

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Gene Duplication and Divergence

Gene Duplication and Divergence

The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was generated by gene duplication and divergence, indicating its critical role in evolution.
The duplicated copies of the gene are called Paralogs. Paralogs with similar sequences and functions form a gene family. Across several species, a large number of gene families are...

Type IV Collagen of Basal Lamina

Type IV Collagen of Basal Lamina

Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can...

The Arch of Aorta

The Arch of Aorta

The coronary arteries, originating from the ascending aorta, bifurcate from two sinuses located within the ascending aorta. Positioned just above the aortic semilunar valve, these sinuses house essential aortic baroreceptors and chemoreceptors, crucial for maintaining cardiac function. The left coronary artery and the right coronary artery branch off from the left posterior and anterior aortic sinuses, respectively.
Encircling the heart, the coronary arteries form a ring-like structure before...

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