Publications:

---

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: Arg182Cys

PubMed Link: 37158955

Variant Present in the following documents:

• Main text
• 40478_2023_Article_1558.pdf

View BVdb publication page

---

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: 544C>T; Arg182Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: NOTCH3: Arg182Cys

PubMed Link: 36606642

Variant Present in the following documents:

• jcn-19-12.pdf

View BVdb publication page

---

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Brain : A Journal Of Neurology

Wu, Chujun C; Wang, Mengwen M; Wang, Xingao X; Li, Wei W; Li, Shaowu S; Chen, Bin B; Niu, Songtao S; Tai, Hongfei H; Pan, Hua H; Zhang, Zaiqiang Z

Publication Date: 2022-11-16

Variant appearance in text: CADASIL: 544C>T

PubMed Link: 36380532

Variant Present in the following documents:

• awac426_supplementary_data.pdf

View BVdb publication page

---

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Jama Neurology

Cho, Bernard P H BPH; Harshfield, Eric L EL; Al-Thani, Maha M; Tozer, Daniel J DJ; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2022-10-27

Variant appearance in text: NOTCH3: 544C>T; Arg182Cys

PubMed Link: 36300346

Variant Present in the following documents:

• jamaneurol-e223832-s001.pdf

View BVdb publication page

---

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.

Journal Of Neurology, Neurosurgery, And Psychiatry

Uemura, Masahiro M; Hatano, Yuya Y; Nozaki, Hiroaki H; Ando, Shoichiro S; Kondo, Hajime H; Hanazono, Akira A; Iwanaga, Akira A; Murota, Hiroyuki H; Osakada, Yosuke Y; Osaki, Masato M; Kanazawa, Masato M; Kanai, Mitsuyasu M; Shibata, Yoko Y; Saika, Reiko R; Miyatake, Tadashi T; Aizawa, Hitoshi H; Ikeuchi, Takeshi T; Tomimoto, Hidekazu H; Mizuta, Ikuko I; Mizuno, Toshiki T; Ishihara, Tomohiko T; Onodera, Osamu O

Publication Date: 2022-10-19

Variant appearance in text: NOTCH3: 544C>T; rs28933697

PubMed Link: 36261288

Variant Present in the following documents:

• jnnp-2022-329917supp001.pdf

View BVdb publication page

---

Intravenous thrombolysis in CADASIL: report of two cases and a systematic review.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Pescini, Francesca F; Torricelli, Sara S; Squitieri, Martina M; Giacomucci, Giulia G; Poggesi, Anna A; Puca, Emanuele E; Bianchi, Silvia S; Ragno, Michele M; Pantoni, Leonardo L

Publication Date: 2022-10-18

Variant appearance in text: NOTCH3: Arg182Cys

PubMed Link: 36255541

Variant Present in the following documents:

• Main text
• 10072_2022_Article_6449.pdf

View BVdb publication page

---

Elderly CADASIL patients with intact neurological status.

Journal Of Stroke

Zhang, Ruiting R; Ouin, Elisa E; Grosset, Lina L; Ighilkrim, Karine K; Lebenberg, Jessica J; Guey, Stéphanie S; François, Véronique V; Tournier-Lasserve, Elisabeth E; Jouvent, Eric E; Chabriat, Hugues H

Publication Date: 2022-09

Variant appearance in text: CADASIL: R182C

PubMed Link: 36221938

Variant Present in the following documents:

• jos-2022-01578.pdf

View BVdb publication page

---

Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: NOTCH3: 544C>T; R182C

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

View BVdb publication page

---

Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Acta Neurologica Scandinavica

Mönkäre, Saana S; Kuuluvainen, Liina L; Schleutker, Johanna J; Myllykangas, Liisa L; Pöyhönen, Minna M

Publication Date: 2022-11

Variant appearance in text: NOTCH3: Arg182Cys; rs28933697

PubMed Link: 36086804

Variant Present in the following documents:

• Main text
• ANE-146-643.pdf

View BVdb publication page

---

Effect of NOTCH3 EGFr Group, Sex, and Cardiovascular Risk Factors on CADASIL Clinical and Neuroimaging Outcomes.

Stroke

Hack, Remco J RJ; Cerfontaine, Minne N MN; Gravesteijn, Gido G; Tap, Stephan S; Hafkemeijer, Anne A; van der Grond, Jeroen J; Witjes-Ané, Marie-Noëlle MN; Baas, Frank F; Rutten, Julie W JW; Lesnik Oberstein, Saskia A J SAJ

Publication Date: 2022-10

Variant appearance in text: NOTCH3: 544C>T

PubMed Link: 35862191

Variant Present in the following documents:

• str-53-3133-s001.pdf

View BVdb publication page

---

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.

Cns Neuroscience & Therapeutics

Ni, Wang W; Zhang, Yi Y; Zhang, Liang L; Xie, Juan-Juan JJ; Li, Hong-Fu HF; Wu, Zhi-Ying ZY

Publication Date: 2022-11

Variant appearance in text: CADASIL: 544C>T

PubMed Link: 35822697

Variant Present in the following documents:

• Main text
• CNS-28-1779.pdf

View BVdb publication page

---

Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population.

Neurology. Genetics

Kang, Chul-Hoo CH; Kim, Young Mee YM; Kim, Yang-Ji YJ; Hong, Su-Jeong SJ; Kim, Do Yoon DY; Woo, Hyun Goo HG; Kim, Young Ree YR; Kim, Joong-Goo JG; Lee, Jung Seok JS; Kong, Mi Hee MH; Kim, Hyeon Ju HJ; Choi, Jay Chol JC

Publication Date: 2021-12

Variant appearance in text: CADASIL: 544C>T

PubMed Link: 34881353

Variant Present in the following documents:

• Main text
• NG2021017140.pdf

View BVdb publication page

---

Contribution of rare variant associations to neurodegenerative disease presentation.

Npj Genomic Medicine

Dilliott, Allison A AA; Abdelhady, Abdalla A; Sunderland, Kelly M KM; Farhan, Sali M K SMK; Abrahao, Agessandro A; Binns, Malcolm A MA; Black, Sandra E SE; Borrie, Michael M; Casaubon, Leanne K LK; Dowlatshahi, Dar D; Finger, Elizabeth E; Fischer, Corinne E CE; Frank, Andrew A; Freedman, Morris M; Grimes, David D; Hassan, Ayman A; Jog, Mandar M; Kumar, Sanjeev S; Kwan, Donna D; Lang, Anthony E AE; Mandzia, Jennifer J; Masellis, Mario M; McIntyre, Adam D AD; Pasternak, Stephen H SH; Pollock, Bruce G BG; Rajji, Tarek K TK; Rogaeva, Ekaterina E; Sahlas, Demetrios J DJ; Saposnik, Gustavo G; Sato, Christine C; Seitz, Dallas D; Shoesmith, Christen C; Steeves, Thomas D L TDL; Swartz, Richard H RH; Tan, Brian B; Tang-Wai, David F DF; Tartaglia, Maria C MC; Turnbull, John J; Zinman, Lorne L; , ; Hegele, Robert A RA

Publication Date: 2021-09-28

Variant appearance in text: NOTCH3: 544C>T; Arg182Cys; rs28933697

PubMed Link: 34584092

Variant Present in the following documents:

• 41525_2021_243_MOESM1_ESM.pdf

View BVdb publication page

---

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients.

Frontiers In Genetics

Hu, Yacen Y; Sun, Qiying Q; Zhou, Yafang Y; Yi, Fang F; Tang, Haiyun H; Yao, Lingyan L; Tian, Yun Y; Xie, Nina N; Luo, Mengchuan M; Wang, Zhiqin Z; Liao, Xinxin X; Xu, Hongwei H; Zhou, Lin L

Publication Date: 2021

Variant appearance in text: CADASIL: R182C

PubMed Link: 34335700

Variant Present in the following documents:

• Main text
• fgene-12-705284.pdf

View BVdb publication page

---

NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.

Neuropathology And Applied Neurobiology

Gravesteijn, Gido G; Hack, Remco J RJ; Mulder, Aat A AA; Cerfontaine, Minne N MN; van Doorn, Remco R; Hegeman, Ingrid M IM; Jost, Carolina R CR; Rutten, Julie W JW; Lesnik Oberstein, Saskia A J SAJ

Publication Date: 2022-02

Variant appearance in text: NOTCH3: R182C

PubMed Link: 34297860

Variant Present in the following documents:

• Main text
• NAN-48-0.pdf

View BVdb publication page

---

The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.

Cns Neuroscience & Therapeutics

Guo, Lina L; Jiao, Bin B; Liao, Xinxin X; Xiao, Xuewen X; Zhang, Weiwei W; Yuan, Zhenhua Z; Liu, Xixi X; Zhou, Lu L; Wang, Xin X; Zhu, Yuan Y; Yang, Qijie Q; Wang, Junling J; Tang, Beisha B; Shen, Lu L

Publication Date: 2021-08

Variant appearance in text: CADASIL: 544C>T

PubMed Link: 33942994

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NOTCH3: R182C; rs28933697

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Journal Of Neurology, Neurosurgery, And Psychiatry

Cho, Bernard P H BPH; Nannoni, Stefania S; Harshfield, Eric L EL; Tozer, Daniel D; Gräf, Stefan S; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2021-07

Variant appearance in text: NOTCH3: 544C>T; Arg182Cys

PubMed Link: 33712516

Variant Present in the following documents:

• jnnp-2020-325838supp001.pdf

View BVdb publication page

---

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Journal Of Neurology, Neurosurgery, And Psychiatry

Cho, Bernard P H BPH; Nannoni, Stefania S; Harshfield, Eric L EL; Tozer, Daniel D; Gräf, Stefan S; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2021-07

Variant appearance in text: NOTCH3: 544C>T; Arg182Cys

PubMed Link: 33712516

Variant Present in the following documents:

• jnnp-2020-325838supp001.pdf

View BVdb publication page

---

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: NOTCH3: R182C

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

---

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: CADASIL: R182C

PubMed Link: 33464533

Variant Present in the following documents:

• Main text
• 12035_2021_Article_2282.pdf

View BVdb publication page

---

Notch3 and its CADASIL mutants differentially regulate cellular phenotypes.

Experimental And Therapeutic Medicine

Lin, Chunjing C; Huang, Ziyang Z; Zhou, Riyong R; Zhou, Ying Y; Shentu, Yangping Y; Yu, Kang K; Zhang, Yu Y

Publication Date: 2021-02

Variant appearance in text: CADASIL: R182C

PubMed Link: 33335580

Variant Present in the following documents:

• Main text
• etm-21-02-09549.pdf

View BVdb publication page

---

CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series.

Frontiers In Neurology

Khan, Ayesha A; Abedi, Vida V; Li, Jiang J; Malik, Muhammad T MT; Esch, Megan M; Zand, Ramin R

Publication Date: 2020

Variant appearance in text: NOTCH3: Arg182Cys

PubMed Link: 33013620

Variant Present in the following documents:

• Main text
• fneur-11-00860.pdf

View BVdb publication page

---

A Nationwide Survey and Multicenter Registry-Based Database of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy in Japan.

Frontiers In Aging Neuroscience

Shindo, Akihiro A; Tabei, Ken-Ichi KI; Taniguchi, Akira A; Nozaki, Hiroaki H; Onodera, Osamu O; Ueda, Akihiko A; Ando, Yukio Y; Urabe, Takao T; Kimura, Kazumi K; Kitagawa, Kazuo K; Hanyu, Haruo H; Hirano, Teruyuki T; Wakita, Hideaki H; Fukuyama, Hidenao H; Kagimura, Tatsuo T; Miyamoto, Yoshihiro Y; Takegami, Misa M; Saito, Satoshi S; Watanabe-Hosomi, Akiko A; Mizuta, Ikuko I; Ihara, Masafumi M; Mizuno, Toshiki T; Tomimoto, Hidekazu H

Publication Date: 2020

Variant appearance in text: CADASIL: 544C>T

PubMed Link: 32765252

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.

Neurology

Rutten, Julie W JW; Hack, Remco J RJ; Duering, Marco M; Gravesteijn, Gido G; Dauwerse, Johannes G JG; Overzier, Maurice M; van den Akker, Erik B EB; Slagboom, Eline E; Holstege, Henne H; Nho, Kwangsik K; Saykin, Andrew A; Dichgans, Martin M; Malik, Rainer R; Lesnik Oberstein, Saskia A J SAJ

Publication Date: 2020-09-29

Variant appearance in text: CADASIL: Arg182Cys

PubMed Link: 32732295

Variant Present in the following documents:

• NEUROLOGY2019046904.pdf

View BVdb publication page

---

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisited: Genotype-phenotype correlations of all published cases.

Neurology. Genetics

Xiromerisiou, Georgia G; Marogianni, Chrysoula C; Dadouli, Katerina K; Zompola, Christina C; Georgouli, Despoina D; Provatas, Antonios A; Theodorou, Aikaterini A; Zervas, Paschalis P; Nikolaidou, Christina C; Stergiou, Stergios S; Ntellas, Panagiotis P; Sokratous, Maria M; Stathis, Pantelis P; Paraskevas, Georgios P GP; Bonakis, Anastasios A; Voumvourakis, Konstantinos K; Hadjichristodoulou, Christos C; Hadjigeorgiou, Georgios M GM; Tsivgoulis, Georgios G

Publication Date: 2020-06

Variant appearance in text: CADASIL: R182C

PubMed Link: 32582863

Variant Present in the following documents:

• Main text
• NG2020013011.pdf

View BVdb publication page

---

Prevalence and Atypical Clinical Characteristics of NOTCH3 Mutations Among Patients Admitted for Acute Lacunar Infarctions.

Frontiers In Aging Neuroscience

Okada, Takashi T; Washida, Kazuo K; Irie, Kenichi K; Saito, Satoshi S; Noguchi, Michio M; Tomita, Tsutomu T; Koga, Masatoshi M; Toyoda, Kazunori K; Okazaki, Shuhei S; Koizumi, Takashi T; Mizuta, Ikuko I; Mizuno, Toshiki T; Ihara, Masafumi M

Publication Date: 2020

Variant appearance in text: NOTCH3: R182C

PubMed Link: 32477100

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: CADASIL: Arg182Cys

PubMed Link: 32457593

Variant Present in the following documents:

• Main text
• fnagi-12-00091.pdf

View BVdb publication page

---

Intracranial high-resolution vessel wall imaging in CADASIL.

Neurology

Goldstein, Eric D ED; Majersik, Jennifer J JJ; McNally, Scott S

Publication Date: 2020-06-09

Variant appearance in text: CADASIL: 544C>T

PubMed Link: 32430314

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Human iPS cell-derived mural cells as an in vitro model of hereditary cerebral small vessel disease.

Molecular Brain

Yamamoto, Yumi Y; Kojima, Katsutoshi K; Taura, Daisuke D; Sone, Masakatsu M; Washida, Kazuo K; Egawa, Naohiro N; Kondo, Takayuki T; Minakawa, Eiko N EN; Tsukita, Kayoko K; Enami, Takako T; Tomimoto, Hidekazu H; Mizuno, Toshiki T; Kalaria, Raj N RN; Inagaki, Nobuya N; Takahashi, Ryosuke R; Harada-Shiba, Mariko M; Ihara, Masafumi M; Inoue, Haruhisa H

Publication Date: 2020-03-19

Variant appearance in text: CADASIL: Arg182Cys

PubMed Link: 32188464

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: Arg182Cys

PubMed Link: 31960911

Variant Present in the following documents:

• Main text
• ddz285.pdf

View BVdb publication page

---

Investigating diagnostic sequencing techniques for CADASIL diagnosis.

Human Genomics

Dunn, P J PJ; Maksemous, N N; Smith, R A RA; Sutherland, H G HG; Haupt, L M LM; Griffiths, L R LR

Publication Date: 2020-01-08

Variant appearance in text: NOTCH3: Arg182Cys; rs28933697

PubMed Link: 31915071

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: 544C>T; R182C

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

---

Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice.

Translational Stroke Research

Gravesteijn, Gido G; Munting, Leon P LP; Overzier, Maurice M; Mulder, Aat A AA; Hegeman, Ingrid I; Derieppe, Marc M; Koster, Abraham J AJ; van Duinen, Sjoerd G SG; Meijer, Onno C OC; Aartsma-Rus, Annemieke A; van der Weerd, Louise L; Jost, Carolina R CR; van den Maagdenberg, Arn M J M AMJM; Rutten, Julie W JW; Lesnik Oberstein, Saskia A J SAJ

Publication Date: 2020-06

Variant appearance in text: NOTCH3: 544C>T

PubMed Link: 31667734

Variant Present in the following documents:

• Main text
• 12975_2019_Article_742.pdf

View BVdb publication page

---

Novel Characteristics of Race-Specific Genetic Functions in Korean CADASIL.

Medicina (Kaunas, Lithuania)

Kim, Yerim Y; Lee, Seung-Hoon SH

Publication Date: 2019-08-22

Variant appearance in text: NOTCH3: R182C

PubMed Link: 31443546

Variant Present in the following documents:

• Main text
• medicina-55-00521.pdf

View BVdb publication page

---

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: 544C>T; Arg182Cys

PubMed Link: 30859180

Variant Present in the following documents:

• awz024_supplementary_text.pdf

View BVdb publication page

---

Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.

Plos One

Olivier, Magali M; Bouaoun, Liacine L; Villar, Stephanie S; Robitaille, Alexis A; Cahais, Vincent V; Heguy, Adriana A; Byrnes, Graham G; Le Calvez-Kelm, Florence F; Torres-Mejía, Gabriela G; Alvarado-Cabrero, Isabel I; Imani-Razavi, Fazlollah Shahram FS; Inés Sánchez, Gloria G; Jaramillo, Roberto R; Porras, Carolina C; Rodriguez, Ana Cecilia AC; Garmendia, Maria Luisa ML; Soto, José Luis JL; Romieu, Isabelle I; Porter, Peggy P; Guenthoer, Jamie J; Rinaldi, Sabina S; ,

Publication Date: 2019

Variant appearance in text: NOTCH3: R182C; rs28933697

PubMed Link: 30653559

Variant Present in the following documents:

• pone.0210372.s001.xlsx, sheet 3

View BVdb publication page

---

Encephalopathy in a Large Cohort of British Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Patients.

Stroke

Drazyk, Anna M AM; Tan, Rhea Y Y RYY; Tay, Jonathan J; Traylor, Matthew M; Das, Tilak T; Markus, Hugh S HS

Publication Date: 2019-02

Variant appearance in text: NOTCH3: Arg182Cys

PubMed Link: 30636574

Variant Present in the following documents:

• Main text
• str-50-283.pdf

View BVdb publication page

---

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: 544C>T

PubMed Link: 28717674

Variant Present in the following documents:

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

View BVdb publication page

---

Evaluation of NOTCH3 Pro167Ser Variation in a Japanese Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Dementia And Geriatric Cognitive Disorders Extra

Mizuno, Toshiki T; Mizuta, Ikuko I; Tomimoto, Hidekazu H

Publication Date: 2016

Variant appearance in text: CADASIL: Arg182Cys

PubMed Link: 27350778

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.

Acta Neuropathologica Communications

Rutten, Julie W JW; Klever, Roselin R RR; Hegeman, Ingrid M IM; Poole, Dana S DS; Dauwerse, Hans G HG; Broos, Ludo A M LA; Breukel, Cor C; Aartsma-Rus, Annemieke M AM; Verbeek, J Sjef JS; van der Weerd, Louise L; van Duinen, Sjoerd G SG; van den Maagdenberg, Arn M J M AM; Lesnik Oberstein, Saskia A J SA

Publication Date: 2015-12-29

Variant appearance in text: NOTCH3: Arg182Cys

PubMed Link: 26715087

Variant Present in the following documents:

• Main text
• 40478_2015_Article_268.pdf

View BVdb publication page

---

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: R182C; rs28933697

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---