LIVIVO - Search results -

Search results

Result 1 - 10 of total 26

Search options

Article ; Online: Bridging the Genetic Divide: Ensuring Equitable Access to Neurologic Genetic Testing.

Pinard, Amélie / Rajkovic, Aleksandar

2024 Volume 102, Issue 6, Page(s) e209289

Language	English
Publishing date	2024-03-06
Publishing country	United States
Document type	Editorial
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000209289
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui II Zs.153: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MG 18: Show issues
Zs.MO 374: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment.

Cecchi, Alana C / Boerio, Maura L / Marin, Isabella / Pinard, Amélie / Milewicz, Dianna M

Journal of the American Heart Association

2022 Volume 11, Issue 8, Page(s) e025441

MeSH term(s)	Aneurysm, Dissecting/diagnosis ; Aneurysm, Dissecting/genetics ; Aneurysm, Dissecting/prevention & control ; Aortic Aneurysm, Thoracic/diagnosis ; Humans ; Pedigree ; Risk Assessment
Language	English
Publishing date	2022-04-06
Publishing country	England
Document type	Editorial ; Comment
ZDB-ID	2653953-6
ISSN	2047-9980 ; 2047-9980
ISSN (online)	2047-9980
ISSN	2047-9980
DOI	10.1161/JAHA.122.025441
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Genetics of Thoracic and Abdominal Aortic Diseases.

Pinard, Amélie / Jones, Gregory T / Milewicz, Dianna M

Circulation research

2019 Volume 124, Issue 4, Page(s) 588–606

Abstract: Dissections or ruptures of aortic aneurysms remain a leading cause of death in the developed world, with the majority of deaths being preventable if individuals at risk are identified and properly managed. Genetic variants predispose individuals to these ...

Abstract	Dissections or ruptures of aortic aneurysms remain a leading cause of death in the developed world, with the majority of deaths being preventable if individuals at risk are identified and properly managed. Genetic variants predispose individuals to these aortic diseases. In the case of thoracic aortic aneurysm and dissections (thoracic aortic disease), genetic data can be used to identify some at-risk individuals and dictate management of the associated vascular disease. For abdominal aortic aneurysms, genetic associations have been identified, which provide insight on the molecular pathogenesis but cannot be used clinically yet to identify individuals at risk for abdominal aortic aneurysms. This compendium will discuss our current understanding of the genetic basis of thoracic aortic disease and abdominal aortic aneurysm disease. Although both diseases share several pathogenic similarities, including proteolytic elastic tissue degeneration and smooth muscle dysfunction, they also have several distinct differences, including population prevalence and modes of inheritance.
MeSH term(s)	Animals ; Aortic Aneurysm, Abdominal/genetics ; Aortic Aneurysm, Abdominal/pathology ; Aortic Aneurysm, Thoracic/genetics ; Aortic Aneurysm, Thoracic/pathology ; Fibrillin-1/genetics ; Humans ; Multifactorial Inheritance ; Penetrance
Chemical Substances	FBN1 protein, human ; Fibrillin-1
Language	English
Publishing date	2019-02-11
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	80100-8
ISSN	1524-4571 ; 0009-7330 ; 0931-6876
ISSN (online)	1524-4571
ISSN	0009-7330 ; 0931-6876
DOI	10.1161/CIRCRESAHA.118.312436
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui IV Zs.70: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Ui IV Zs.60: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.

Milewicz, Dianna M / Guo, Dongchuan / Hostetler, Ellen / Marin, Isabella / Pinard, Amelie C / Cecchi, Alana C

The Journal of cardiovascular surgery

2021 Volume 62, Issue 3, Page(s) 203–210

Abstract: Genetic variation plays a significant role in predisposing individuals to thoracic aortic aneurysms and dissections. Advances in genomic research have led to the discovery of 11 genes validated to cause heritable thoracic aortic disease (HTAD). ... ...

Abstract	Genetic variation plays a significant role in predisposing individuals to thoracic aortic aneurysms and dissections. Advances in genomic research have led to the discovery of 11 genes validated to cause heritable thoracic aortic disease (HTAD). Identifying the pathogenic variants responsible for aortic disease in affected patients confers substantial clinical utility by establishing a definitive diagnosis to inform tailored treatment and management, and enables identification of at-risk relatives to prevent downstream morbidity and mortality. The availability and access to clinical genetic testing has improved dramatically such that genetic testing is considered an integral part of the clinical evaluation for patients with thoracic aortic disease. This review provides an update on our current understanding of the genetic basis of thoracic aortic disease, practical recommendations for genetic testing, and clinical implications.
MeSH term(s)	Acute Disease ; Aortic Dissection/genetics ; Aortic Aneurysm, Thoracic/genetics ; Genetic Predisposition to Disease ; Humans ; Risk Factors
Language	English
Publishing date	2021-03-18
Publishing country	Italy
Document type	Journal Article ; Review
ZDB-ID	80143-4
ISSN	1827-191X ; 0021-9509
ISSN (online)	1827-191X
ISSN	0021-9509
DOI	10.23736/S0021-9509.21.11816-6
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 469: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.

Karla, Aamuktha R / Pinard, Amélie / Boerio, Maura L / Hemelsoet, Dimitri / Tavernier, Simon J / De Pauw, Michel / Vereecke, Elke / Fraser, Stuart / Bamshad, Michael J / Guo, Dongchuan / Callewaert, Bert / Milewicz, Dianna M

American journal of medical genetics. Part A

2023 Volume 194, Issue 4, Page(s) e63486

Abstract: Aicardi-Goutières syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early-onset encephalopathy with both neurologic and extraneurologic clinical findings. AGS has been associated with pathogenic variants in nine genes: ... ...

Abstract	Aicardi-Goutières syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early-onset encephalopathy with both neurologic and extraneurologic clinical findings. AGS has been associated with pathogenic variants in nine genes: TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, ADAR, IFIH1, LSM11, and RNU7-1. Diagnosis is established by clinical findings (encephalopathy and acquired microcephaly, intellectual and physical impairments, dystonia, hepatosplenomegaly, sterile pyrexia, and/or chilblains), characteristic abnormalities on cranial CT (calcification of the basal ganglia and white matter) and MRI (leukodystrophic changes), or the identification of pathogenic/likely pathogenic variants in the known genes. One of the genes associated with AGS, SAMHD1, has also been associated with a spectrum of cerebrovascular diseases, including moyamoya disease (MMD). In this report, we describe a 31-year-old male referred to genetics for MMD since childhood who lacked the hallmark features of AGS patients but was found to have compound heterozygous SAMHD1 variants. He later developed mitral valve insufficiency due to recurrent chordal rupture and ultimately underwent a heart transplant at 37 years of age. Thus, these data suggest that SAMHD1 pathogenic variants can cause MMD without typical AGS symptoms and support that SAMHD1 should be assessed in MMD patients even in the absence of AGS features.
MeSH term(s)	Male ; Humans ; Child ; Adult ; SAM Domain and HD Domain-Containing Protein 1/genetics ; Moyamoya Disease/complications ; Mitral Valve/pathology ; Mutation ; Nervous System Malformations/diagnostic imaging ; Nervous System Malformations/genetics ; Autoimmune Diseases of the Nervous System/diagnosis ; Autoimmune Diseases of the Nervous System/genetics ; Autoimmune Diseases of the Nervous System/pathology ; Brain Diseases/complications
Chemical Substances	SAM Domain and HD Domain-Containing Protein 1 (EC 3.1.5.-) ; SAMHD1 protein, human (EC 3.1.5.-)
Language	English
Publishing date	2023-12-01
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.63486
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1376/A: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: An uncommon cause of tricuspid regurgitation: three-dimensional echocardiographic incremental value, surgical and genetic insights.

Theron, Alexis / Pinard, Amélie / Riberi, Alberto / Zaffran, Stéphane

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery

2016 Volume 50, Issue 1, Page(s) 180–182

Abstract: Congenital tricuspid valve disease is a rare defect that includes regurgitation, stenosis and Ebstein's anomaly. We report a case of severe tricuspid regurgitation associated with functional mitral regurgitation in a 47-year-old man with congestive heart ...

Abstract	Congenital tricuspid valve disease is a rare defect that includes regurgitation, stenosis and Ebstein's anomaly. We report a case of severe tricuspid regurgitation associated with functional mitral regurgitation in a 47-year-old man with congestive heart failure. Transthoracic echocardiography (TTE) ruled out any Ebstein's anomaly. Three-dimensional TTE revealed a 'tricuspid hole' into the anterior leaflet that was only attached to the tricuspid annulus next to both anteroseptal and anteroposterior commissures. There was no sign of leaflet tear or perforation. The surgical repair of the tricuspid and mitral valves was performed with an optimal result. No sign of endocarditis or rheumatic disease was observed during the intervention. Sequence analysis of GATA4, HEY2 and ZFPM2 genes was performed, but no causative mutation was identified.
MeSH term(s)	Echocardiography, Three-Dimensional ; Humans ; Male ; Middle Aged ; Tricuspid Valve Insufficiency/diagnostic imaging ; Tricuspid Valve Insufficiency/genetics ; Tricuspid Valve Insufficiency/physiopathology ; Tricuspid Valve Insufficiency/surgery
Language	English
Publishing date	2016-07
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	639293-3
ISSN	1873-734X ; 1010-7940 ; 1567-4258
ISSN (online)	1873-734X
ISSN	1010-7940 ; 1567-4258
DOI	10.1093/ejcts/ezv423
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2303: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish.

Odelin, Gaëlle / Faucherre, Adèle / Marchese, Damien / Pinard, Amélie / Jaouadi, Hager / Le Scouarnec, Solena / Chiarelli, Raphaël / Achouri, Younes / Faure, Emilie / Herbane, Marine / Théron, Alexis / Avierinos, Jean-François / Jopling, Chris / Collod-Béroud, Gwenaëlle / Rezsohazy, René / Zaffran, Stéphane

Nature communications

2023 Volume 14, Issue 1, Page(s) 1543

Abstract: Bicuspid aortic valve (BAV), the most common cardiovascular malformation occurs in 0.5-1.2% of the population. Although highly heritable, few causal mutations have been identified in BAV patients. Here, we report the targeted sequencing of HOXA1 in a ... ...

Abstract	Bicuspid aortic valve (BAV), the most common cardiovascular malformation occurs in 0.5-1.2% of the population. Although highly heritable, few causal mutations have been identified in BAV patients. Here, we report the targeted sequencing of HOXA1 in a cohort of BAV patients and the identification of rare indel variants in the homopolymeric histidine tract of HOXA1. In vitro analysis shows that disruption of this motif leads to a significant reduction in protein half-life and defective transcriptional activity of HOXA1. In zebrafish, targeting hoxa1a ortholog results in aortic valve defects. In vivo assays indicates that these variants behave as dominant negatives leading abnormal valve development. In mice, deletion of Hoxa1 leads to BAV with a very small, rudimentary non-coronary leaflet. We also show that 17% of homozygous Hoxa1
MeSH term(s)	Animals ; Mice ; Aortic Valve/abnormalities ; Bicuspid Aortic Valve Disease/metabolism ; Heart Valve Diseases/genetics ; Heart Valve Diseases/metabolism ; Histidine/metabolism ; Zebrafish/genetics ; Zebrafish Proteins/genetics ; Homeodomain Proteins/genetics
Chemical Substances	Histidine (4QD397987E) ; polyhistidine (26062-48-6) ; homeobox A1 protein ; Zebrafish Proteins ; Homeodomain Proteins
Language	English
Publishing date	2023-03-20
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-023-37110-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Further Evidence That

Boerio, Maura L / Engelhardt, Nicole M / Cuddapah, Sanmati / Gold, Jessica I / Marin, Isabella C / Pinard, Amélie / Guo, Dongchuan / Prakash, Siddharth K / Milewicz, Dianna M

Circulation. Genomic and precision medicine

2022 Volume 15, Issue 6, Page(s) e003707

MeSH term(s)	Humans ; Aorta ; Aortic Aneurysm, Thoracic ; Aortic Diseases/genetics ; Ubiquitin-Protein Ligases
Chemical Substances	ARIH1 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2022-11-09
Publishing country	United States
Document type	Case Reports ; Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	2574-8300
ISSN (online)	2574-8300
DOI	10.1161/CIRCGEN.122.003707
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Mosaicism for the smooth muscle cell (SMC)-specific knock-in of the Acta2 R179C pathogenic variant: Implications for gene editing therapies.

Kaw, Anita / Pedroza, Albert J / Chattopadhyay, Abhijnan / Pinard, Amelie / Guo, Dongchuan / Kaw, Kaveeta / Zhou, Zhen / Shad, Rohan / Fischbein, Michael P / Kwartler, Callie S / Milewicz, Dianna M

Journal of molecular and cellular cardiology

2022 Volume 171, Page(s) 102–104

MeSH term(s)	Actins/genetics ; Aortic Aneurysm, Thoracic/pathology ; Gene Editing ; Humans ; Mosaicism ; Myocytes, Smooth Muscle/pathology
Chemical Substances	ACTA2 protein, human ; Actins
Language	English
Publishing date	2022-07-22
Publishing country	England
Document type	Letter ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80157-4
ISSN	1095-8584 ; 0022-2828
ISSN (online)	1095-8584
ISSN	0022-2828
DOI	10.1016/j.yjmcc.2022.07.004
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 426: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

Pinard, Amélie / Ye, Wenlei / Fraser, Stuart M / Rosenfeld, Jill A / Pichurin, Pavel / Hickey, Scott E / Guo, Dongchuan / Cecchi, Alana C / Boerio, Maura L / Guey, Stéphanie / Aloui, Chaker / Lee, Kwanghyuk / Kraemer, Markus / Alyemni, Saleh Omar / Bamshad, Michael J / Nickerson, Deborah A / Tournier-Lasserve, Elisabeth / Haider, Shozeb / Jin, Sheng Chih /

Smith, Edward R / Kahle, Kristopher T / Jan, Lily Yeh / He, Mu / Milewicz, Dianna M

Brain : a journal of neurology

2023 Volume 146, Issue 9, Page(s) 3616–3623

Abstract: Moyamoya disease, a cerebrovascular disease leading to strokes in children and young adults, is characterized by progressive occlusion of the distal internal carotid arteries and the formation of collateral vessels. Altered genes play a prominent role in ...

Abstract	Moyamoya disease, a cerebrovascular disease leading to strokes in children and young adults, is characterized by progressive occlusion of the distal internal carotid arteries and the formation of collateral vessels. Altered genes play a prominent role in the aetiology of moyamoya disease, but a causative gene is not identified in the majority of cases. Exome sequencing data from 151 individuals from 84 unsolved families were analysed to identify further genes for moyamoya disease, then candidate genes assessed in additional cases (150 probands). Two families had the same rare variant in ANO1, which encodes a calcium-activated chloride channel, anoctamin-1. Haplotype analyses found the families were related, and ANO1 p.Met658Val segregated with moyamoya disease in the family with an LOD score of 3.3. Six additional ANO1 rare variants were identified in moyamoya disease families. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harbouring these gain-of-function ANO1 variants had classic features of moyamoya disease, but also had aneurysm, stenosis and/or occlusion in the posterior circulation. Our studies support that ANO1 gain-of-function pathogenic variants predispose to moyamoya disease and are associated with unique involvement of the posterior circulation.
MeSH term(s)	Child ; Humans ; Young Adult ; Anoctamin-1/genetics ; Chloride Channels/genetics ; Moyamoya Disease/genetics ; Neoplasm Proteins/genetics
Chemical Substances	ANO1 protein, human ; Anoctamin-1 ; Chloride Channels ; Neoplasm Proteins
Language	English
Publishing date	2023-05-23
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awad172
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui II Zs.26: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito