Publications:

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ER stress induced immunopathology involving complement in CADASIL: implications for therapeutics.

Acta Neuropathologica Communications

Panahi, Mahmod M; Hase, Yoshiki Y; Gallart-Palau, Xavier X; Mitra, Sumonto S; Watanabe, Atsushi A; Low, Roger C RC; Yamamoto, Yumi Y; Sepulveda-Falla, Diego D; Hainsworth, Atticus H AH; Ihara, Masafumi M; Sze, Siu Kwan SK; Viitanen, Matti M; Behbahani, Homira H; Kalaria, Raj N RN

Publication Date: 2023-05-08

Variant appearance in text: NOTCH3: Cys455Arg

PubMed Link: 37158955

Variant Present in the following documents:

• Main text
• 40478_2023_Article_1558.pdf

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: NOTCH3: 1363T>C; Cys455Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Journal Of Clinical Neurology (Seoul, Korea)

Yamamoto, Yumi Y; Liao, Yi-Chu YC; Lee, Yi-Chung YC; Ihara, Masafumi M; Choi, Jay Chol JC

Publication Date: 2023-01

Variant appearance in text: CADASIL: Cys455Arg

PubMed Link: 36606642

Variant Present in the following documents:

• jcn-19-12.pdf

View BVdb publication page

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Mechanisms regulating cerebral hypoperfusion in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Journal Of Biomedical Research

Yan, Xi X; Shang, Junkui J; Wang, Runrun R; Wang, Fengyu F; Zhang, Jiewen J

Publication Date: 2022-08-28

Variant appearance in text: CADASIL: C455R

PubMed Link: 36165325

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evidence of beta amyloid independent small vessel disease in familial Alzheimer's disease.

Brain Pathology (Zurich, Switzerland)

Littau, Jessica Lisa JL; Velilla, Lina L; Hase, Yoshiki Y; Villalba-Moreno, Nelson David ND; Hagel, Christian C; Drexler, Dagmar D; Osorio Restrepo, Santiago S; Villegas, Andres A; Lopera, Francisco F; Vargas, Sergio S; Glatzel, Markus M; Krasemann, Susanne S; Quiroz, Yakeel T YT; Arboleda-Velasquez, Joseph F JF; Kalaria, Rajesh R; Sepulveda-Falla, Diego D

Publication Date: 2022-11

Variant appearance in text: CADASIL: Cys455Arg

PubMed Link: 35695802

Variant Present in the following documents:

• Main text
• BPA-32-e13097.pdf

View BVdb publication page

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A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Genome Medicine

Acosta-Uribe, Juliana J; Aguillón, David D; Cochran, J Nicholas JN; Giraldo, Margarita M; Madrigal, Lucía L; Killingsworth, Bradley W BW; Singhal, Rijul R; Labib, Sarah S; Alzate, Diana D; Velilla, Lina L; Moreno, Sonia S; García, Gloria P GP; Saldarriaga, Amanda A; Piedrahita, Francisco F; Hincapié, Liliana L; López, Hugo E HE; Perumal, Nithesh N; Morelo, Leonilde L; Vallejo, Dionis D; Solano, Juan Marcos JM; Reiman, Eric M EM; Surace, Ezequiel I EI; Itzcovich, Tatiana T; Allegri, Ricardo R; Sánchez-Valle, Raquel R; Villegas-Lanau, Andrés A; White, Charles L CL; Matallana, Diana D; Myers, Richard M RM; Browning, Sharon R SR; Lopera, Francisco F; Kosik, Kenneth S KS

Publication Date: 2022-03-08

Variant appearance in text: NOTCH3: 1363T>C

PubMed Link: 35260199

Variant Present in the following documents:

• Main text
• 13073_2022_Article_1035.pdf

View BVdb publication page

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The pericyte: A critical cell in the pathogenesis of CADASIL.

Cerebral Circulation - Cognition And Behavior

Ruchoux, Marie-Magdeleine MM; Kalaria, Raj N RN; Román, Gustavo C GC

Publication Date: 2021

Variant appearance in text: CADASIL: Cys455Arg

PubMed Link: 34950895

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel Cysteine-Sparing Hypomorphic NOTCH3 A1604T Mutation Observed in a Family With Migraine and White Matter Lesions.

Neurology. Genetics

Arnardottir, Snjolaug S; Del Gaudio, Francesca F; Klironomos, Stefanos S; Braune, Eike-Benjamin EB; Lombraña, Ariane Araujo AA; Oliveira, Daniel V DV; Jin, Shaobo S; Karlström, Helena H; Lendahl, Urban U; Sjöstrand, Christina C

Publication Date: 2021-06

Variant appearance in text: NOTCH3: C455R

PubMed Link: 33898742

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science.

Frontiers In Neurology

Ibanez, Agustin A; Yokoyama, Jennifer S JS; Possin, Katherine L KL; Matallana, Diana D; Lopera, Francisco F; Nitrini, Ricardo R; Takada, Leonel T LT; Custodio, Nilton N; Sosa Ortiz, Ana Luisa AL; Avila-Funes, José Alberto JA; Behrens, Maria Isabel MI; Slachevsky, Andrea A; Myers, Richard M RM; Cochran, J Nicholas JN; Brusco, Luis Ignacio LI; Bruno, Martin A MA; Brucki, Sonia M D SMD; Pina-Escudero, Stefanie Danielle SD; Okada de Oliveira, Maira M; Donnelly Kehoe, Patricio P; Garcia, Adolfo M AM; Cardona, Juan Felipe JF; Santamaria-Garcia, Hernando H; Moguilner, Sebastian S; Duran-Aniotz, Claudia C; Tagliazucchi, Enzo E; Maito, Marcelo M; Longoria Ibarrola, Erika Mariana EM; Pintado-Caipa, Maritza M; Godoy, Maria Eugenia ME; Bakman, Vera V; Javandel, Shireen S; Kosik, Kenneth S KS; Valcour, Victor V; Miller, Bruce L BL

Publication Date: 2021

Variant appearance in text: CADASIL: C455R

PubMed Link: 33776890

Variant Present in the following documents:

• fneur-12-631722.pdf

View BVdb publication page

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Dementia in Latin America: Paving the way toward a regional action plan.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Parra, Mario Alfredo MA; Baez, Sandra S; Sedeño, Lucas L; Gonzalez Campo, Cecilia C; Santamaría-García, Hernando H; Aprahamian, Ivan I; Bertolucci, Paulo Hf PH; Bustin, Julian J; Camargos Bicalho, Maria Aparecida MA; Cano-Gutierrez, Carlos C; Caramelli, Paulo P; Chaves, Marcia L F MLF; Cogram, Patricia P; Beber, Bárbara Costa BC; Court, Felipe A FA; de Souza, Leonardo Cruz LC; Custodio, Nilton N; Damian, Andres A; de la Cruz, Myriam M; Diehl Rodriguez, Roberta R; Brucki, Sonia Maria Dozzi SMD; Fajersztajn, Lais L; Farías, Gonzalo A GA; De Felice, Fernanda G FG; Ferrari, Raffaele R; de Oliveira, Fabricio Ferreira FF; Ferreira, Sergio T ST; Ferretti, Ceres C; Figueredo Balthazar, Marcio Luiz ML; Ferreira Frota, Norberto Anizio NA; Fuentes, Patricio P; García, Adolfo M AM; Garcia, Patricia J PJ; de Gobbi Porto, Fábio Henrique FH; Duque Peñailillo, Lissette L; Engler, Henry Willy HW; Maier, Irene I; Mata, Ignacio F IF; Gonzalez-Billault, Christian C; Lopez, Oscar L OL; Morelli, Laura L; Nitrini, Ricardo R; Quiroz, Yakeel T YT; Guerrero Barragan, Alejandra A; Huepe, David D; Pio, Fabricio Joao FJ; Suemoto, Claudia Kimie CK; Kochhann, Renata R; Kochen, Silvia S; Kumfor, Fiona F; Lanata, Serggio S; Miller, Bruce B; Mansur, Leticia Lessa LL; Hosogi, Mirna Lie ML; Lillo, Patricia P; Llibre Guerra, Jorge J; Lira, David D; Lopera, Francisco F; Comas, Adelina A; Avila-Funes, José Alberto JA; Sosa, Ana Luisa AL; Ramos, Claudia C; Resende, Elisa de Paula França EPF; Snyder, Heather M HM; Tarnanas, Ioannis I; Yokoyama, Jenifer J; Llibre, Juan J; Cardona, Juan Felipe JF; Possin, Kate K; Kosik, Kenneth S KS; Montesinos, Rosa R; Moguilner, Sebastian S; Solis, Patricia Cristina Lourdes PCL; Ferretti-Rebustini, Renata Eloah de Lucena REL; Ramirez, Jeronimo Martin JM; Matallana, Diana D; Mbakile-Mahlanza, Lingani L; Marques Ton, Alyne Mendonça AM; Tavares, Ronnielly Melo RM; Miotto, Eliane C EC; Muniz-Terrera, Graciela G; Muñoz-Nevárez, Luis Arnoldo LA; Orozco, David D; Okada de Oliveira, Maira M; Piguet, Olivier O; Pintado Caipa, Maritza M; Piña Escudero, Stefanie Danielle SD; Schilling, Lucas Porcello LP; Rodrigues Palmeira, André Luiz AL; Yassuda, Mônica Sanches MS; Santacruz-Escudero, Jose Manuel JM; Serafim, Rodrigo Bernardo RB; Smid, Jerusa J; Slachevsky, Andrea A; Serrano, Cecilia C; Soto-Añari, Marcio M; Takada, Leonel Tadao LT; Grinberg, Lea Tenenholz LT; Teixeira, Antonio Lucio AL; Barbosa, Maira Tonidandel MT; Trépel, Dominic D; Ibanez, Agustin A

Publication Date: 2021-02

Variant appearance in text: CADASIL: C455R

PubMed Link: 33634602

Variant Present in the following documents:

• ALZ-17-295.pdf

View BVdb publication page

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CADASIL from Bench to Bedside: Disease Models and Novel Therapeutic Approaches.

Molecular Neurobiology

Manini, Arianna A; Pantoni, Leonardo L

Publication Date: 2021-06

Variant appearance in text: NOTCH3: C455R

PubMed Link: 33464533

Variant Present in the following documents:

• Main text
• 12035_2021_Article_2282.pdf

View BVdb publication page

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Apolipoprotein E ε4 Is Associated With the Development of Incident Dementia in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients With p.Arg544Cys Mutation.

Frontiers In Aging Neuroscience

Lee, Jung Seok JS; Ko, Keun Hyuk KH; Oh, Jung-Hwan JH; Kim, Joong-Goo JG; Kang, Chul-Hoo CH; Song, Sook-Keun SK; Kang, Sa-Yoon SY; Kang, Ji-Hoon JH; Park, Joon Hyuk JH; Koh, Myeong Ju MJ; Lee, Ho Kyu HK; Choi, Jay Chol JC

Publication Date: 2020

Variant appearance in text: NOTCH3: C455R

PubMed Link: 33328970

Variant Present in the following documents:

• Main text
• fnagi-12-591879.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: NOTCH3: 1363T>C; Cys455Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Cognitive performance in asymptomatic carriers of mutations R1031C and R141C in CADASIL.

International Journal Of Psychological Research

Zuluaga-Castaño, Yesica Y; Montoya-Arenas, David Andrés DA; Velilla, Lina L; Ospina, Carolina C; Arboleda-Velasquez, Joseph F JF; Quiroz, Yakeel T YT; Lopera, Francisco F

Publication Date: 2018

Variant appearance in text: CADASIL: C455R

PubMed Link: 32612778

Variant Present in the following documents:

• Main text
• ijpr-11-02-00046.pdf

View BVdb publication page

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Clinical and Genetic Aspects of CADASIL.

Frontiers In Aging Neuroscience

Mizuno, Toshiki T; Mizuta, Ikuko I; Watanabe-Hosomi, Akiko A; Mukai, Mao M; Koizumi, Takashi T

Publication Date: 2020

Variant appearance in text: NOTCH3: Cys455Arg

PubMed Link: 32457593

Variant Present in the following documents:

• Main text
• fnagi-12-00091.pdf

View BVdb publication page

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Notch3 in Development, Health and Disease.

Biomolecules

Hosseini-Alghaderi, Samira S; Baron, Martin M

Publication Date: 2020-03-23

Variant appearance in text: NOTCH3: C455R

PubMed Link: 32210034

Variant Present in the following documents:

• biomolecules-10-00485.pdf

View BVdb publication page

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Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.

Human Molecular Genetics

Gravesteijn, Gido G; Dauwerse, Johannes G JG; Overzier, Maurice M; Brouwer, Gwendolyn G; Hegeman, Ingrid I; Mulder, Aat A AA; Baas, Frank F; Kruit, Mark C MC; Terwindt, Gisela M GM; van Duinen, Sjoerd G SG; Jost, Carolina R CR; Aartsma-Rus, Annemieke A; Lesnik Oberstein, Saskia A J SAJ; Rutten, Julie W JW

Publication Date: 2020-07-21

Variant appearance in text: NOTCH3: C455R

PubMed Link: 31960911

Variant Present in the following documents:

• Main text

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: NOTCH3: 1363T>C; C455R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Brain : A Journal Of Neurology

Mishra, Aniket A; Chauhan, Ganesh G; Violleau, Marie-Helene MH; Vojinovic, Dina D; Jian, Xueqiu X; Bis, Joshua C JC; Li, Shuo S; Saba, Yasaman Y; Grenier-Boley, Benjamin B; Yang, Qiong Q; Bartz, Traci M TM; Hofer, Edith E; Soumaré, Aïcha A; Peng, Fen F; Duperron, Marie-Gabrielle MG; Foglio, Mario M; Mosley, Thomas H TH; Schmidt, Reinhold R; Psaty, Bruce M BM; Launer, Lenore J LJ; Boerwinkle, Eric E; Zhu, Yicheng Y; Mazoyer, Bernard B; Lathrop, Mark M; Bellenguez, Celine C; Van Duijn, Cornelia M CM; Ikram, M Arfan MA; Schmidt, Helena H; Longstreth, W T WT; Fornage, Myriam M; Seshadri, Sudha S; Joutel, Anne A; Tzourio, Christophe C; Debette, Stephanie S

Publication Date: 2019-04-01

Variant appearance in text: NOTCH3: 1363T>C; Cys455Arg

PubMed Link: 30859180

Variant Present in the following documents:

• awz024_supplementary_text.pdf

View BVdb publication page

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Cerebrovascular disorders associated with genetic lesions.

Cellular And Molecular Life Sciences : Cmls

Karschnia, Philipp P; Nishimura, Sayoko S; Louvi, Angeliki A

Publication Date: 2019-01

Variant appearance in text: CADASIL: C455R

PubMed Link: 30327838

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Rutten, Julie W JW; Van Eijsden, Bastian J BJ; Duering, Marco M; Jouvent, Eric E; Opherk, Christian C; Pantoni, Leonardo L; Federico, Antonio A; Dichgans, Martin M; Markus, Hugh S HS; Chabriat, Hugues H; Lesnik Oberstein, Saskia A J SAJ

Publication Date: 2019-03

Variant appearance in text: CADASIL: C455R

PubMed Link: 30032161

Variant Present in the following documents:

• 41436_2018_Article_88.pdf

View BVdb publication page

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: NOTCH3: C455R

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: CADASIL: C455R

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 4
• supp_3.4.e163_Table_e-1.xlsx, sheet 3

View BVdb publication page

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Therapeutic antibody targeting of Notch3 signaling prevents mural cell loss in CADASIL.

The Journal Of Experimental Medicine

Machuca-Parra, Arturo I AI; Bigger-Allen, Alexander A AA; Sanchez, Angie V AV; Boutabla, Anissa A; Cardona-Vélez, Jonathan J; Amarnani, Dhanesh D; Saint-Geniez, Magali M; Siebel, Christian W CW; Kim, Leo A LA; D'Amore, Patricia A PA; Arboleda-Velasquez, Joseph F JF

Publication Date: 2017-08-07

Variant appearance in text: NOTCH3: C455R

PubMed Link: 28698285

Variant Present in the following documents:

• Main text

View BVdb publication page

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The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation.

Eneurologicalsci

Vishnevetsky, Anastasia A; Inca-Martinez, Miguel M; Milla-Neyra, Karina K; Barrientos-Iman, Danny Moises DM; Cornejo-Herrera, Ivan I; Cosentino, Carlos C; Cornejo-Olivas, Mario M

Publication Date: 2016-12

Variant appearance in text: CADASIL: C455R

PubMed Link: 28534048

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Vascular cognitive impairment: Modeling a critical neurologic disease in vitro and in vivo.

Biochimica Et Biophysica Acta

Helman, Alex M AM; Murphy, M Paul MP

Publication Date: 2016-05

Variant appearance in text: NOTCH3: C455R

PubMed Link: 26704178

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CADASIL: C455R; rs28933698

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NOTCH3: C455R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Clinical significance of cerebral microbleeds locations in CADASIL with R544C NOTCH3 mutation.

Plos One

Lee, Jung Seok JS; Kang, Chul-Hoo CH; Park, Sukh Que SQ; Choi, H Alex HA; Sim, Ki-Bum KB

Publication Date: 2015

Variant appearance in text: CADASIL: C455R

PubMed Link: 25692567

Variant Present in the following documents:

• pone.0118163.pdf

View BVdb publication page

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CADASIL and CARASIL.

Brain Pathology (Zurich, Switzerland)

Tikka, Saara S; Baumann, Marc M; Siitonen, Maija M; Pasanen, Petra P; Pöyhönen, Minna M; Myllykangas, Liisa L; Viitanen, Matti M; Fukutake, Toshio T; Cognat, Emmanuel E; Joutel, Anne A; Kalimo, Hannu H

Publication Date: 2014-09

Variant appearance in text: NOTCH3: C455R

PubMed Link: 25323668

Variant Present in the following documents:

• Main text
• BPA-24-525.pdf

View BVdb publication page

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Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.

Plos One

Meng, He H; Zhang, Xiaojie X; Yu, Genggeng G; Lee, Soo Jung SJ; Chen, Y Eugene YE; Prudovsky, Igor I; Wang, Michael M MM

Publication Date: 2012

Variant appearance in text: NOTCH3: C455R

PubMed Link: 23028706

Variant Present in the following documents:

• Main text
• pone.0044964.pdf

View BVdb publication page

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Notch and disease: a growing field.

Seminars In Cell & Developmental Biology

Louvi, Angeliki A; Artavanis-Tsakonas, Spyros S

Publication Date: 2012-06

Variant appearance in text: CADASIL: C455R

PubMed Link: 22373641

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic animal models of cerebral vasculopathies.

Progress In Molecular Biology And Translational Science

Lee, Jeong Hyun JH; Bacskai, Brian J BJ; Ayata, Cenk C

Publication Date: 2012

Variant appearance in text: NOTCH3: C455R

PubMed Link: 22137428

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.

Neuropsychiatric Disease And Treatment

Shahien, Radi R; Bianchi, Silvia S; Bowirrat, Abdalla A

Publication Date: 2011

Variant appearance in text: CADASIL: C455R

PubMed Link: 21822390

Variant Present in the following documents:

• ndt-7-383.pdf

View BVdb publication page

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Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Arboleda-Velasquez, Joseph F JF; Manent, Jan J; Lee, Jeong Hyun JH; Tikka, Saara S; Ospina, Carolina C; Vanderburg, Charles R CR; Frosch, Matthew P MP; Rodríguez-Falcón, Manuel M; Villen, Judit J; Gygi, Steven S; Lopera, Francisco F; Kalimo, Hannu H; Moskowitz, Michael A MA; Ayata, Cenk C; Louvi, Angeliki A; Artavanis-Tsakonas, Spyros S

Publication Date: 2011-05-24

Variant appearance in text: NOTCH3: C455R

PubMed Link: 21555590

Variant Present in the following documents:

• Main text

View BVdb publication page

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Notch signaling in the vasculature.

Current Topics In Developmental Biology

Gridley, Thomas T

Publication Date: 2010

Variant appearance in text: CADASIL: Cys455Arg

PubMed Link: 20816399

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.

Brain : A Journal Of Neurology

Monet-Leprêtre, Marie M; Bardot, Boris B; Lemaire, Barbara B; Domenga, Valérie V; Godin, Ophélia O; Dichgans, Martin M; Tournier-Lasserve, Elisabeth E; Cohen-Tannoudji, Michel M; Chabriat, Hugues H; Joutel, Anne A

Publication Date: 2009-06

Variant appearance in text: NOTCH3: C455R

PubMed Link: 19293235

Variant Present in the following documents:

• Main text

View BVdb publication page

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CADASIL in Arabs: clinical and genetic findings.

Bmc Medical Genetics

Bohlega, Saeed S; Al Shubili, Asmahan A; Edris, Abdulrahman A; Alreshaid, Abdulrahman A; Alkhairallah, Thamer T; AlSous, M Walid MW; Farah, Samir S; Abu-Amero, Khaled K KK

Publication Date: 2007-11-09

Variant appearance in text: NOTCH3: C455R

PubMed Link: 17996090

Variant Present in the following documents:

• 1471-2350-8-67.pdf

View BVdb publication page

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