BOLL c.481-387C>T

Variant ID: 2-198631714-G-A

NM_033030.5(BOLL):c.481-387C>T

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs700651
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Epigenetic landscapes of intracranial aneurysm risk haplotypes implicate enhancer function of endothelial cells and fibroblasts in dysregulated gene expression.

Bmc Medical Genomics
Poppenberg, Kerry E KE; Zebraski, Haley R HR; Avasthi, Naval N; Waqas, Muhammad M; Siddiqui, Adnan H AH; Jarvis, James N JN; Tutino, Vincent M VM
Publication Date: 2021-06-16

Variant appearance in text: rs700651
PubMed Link: 34134708
Variant Present in the following documents:
  • Main text
  • 12920_2021_Article_1007.pdf
View BVdb publication page



Association of CDKN2A/CDKN2B Gene Polymorphisms with Increased Susceptibility to Intracranial Aneurysm in a Chinese Han Population.

Neuropsychiatric Disease And Treatment
Cui, Xiaopeng X; Xin, Wen-Qiang WQ; Wang, Bangyue B; Zhao, Yan Y; Hou, Changkai C; Cai, Shifei S; Peng, Chao C; Wang, Zhen Z; Li, Jian J; Huan, Linchun L; Chen, Lei L; Yang, Xinyu X
Publication Date: 2021

Variant appearance in text: rs700651
PubMed Link: 34012264
Variant Present in the following documents:
  • Main text
  • ndt-17-1443.pdf
View BVdb publication page



Epigenetic landscapes suggest that genetic risk for intracranial aneurysm operates on the endothelium.

Bmc Medical Genomics
Poppenberg, Kerry E KE; Jiang, Kaiyu K; Tso, Michael K MK; Snyder, Kenneth V KV; Siddiqui, Adnan H AH; Kolega, John J; Jarvis, James N JN; Meng, Hui H; Tutino, Vincent M VM
Publication Date: 2019-10-30

Variant appearance in text: rs700651
PubMed Link: 31666072
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_591.pdf
View BVdb publication page



Genome-Wide Association between the 2q33.1 Locus and Intracranial Aneurysm Susceptibility: An Updated Meta-Analysis Including 18,019 Individuals.

Journal Of Clinical Medicine
Hong, Eun Pyo EP; Kim, Bong Jun BJ; Jeon, Jin Pyeong JP
Publication Date: 2019-05-16

Variant appearance in text: rs700651
PubMed Link: 31100866
Variant Present in the following documents:
  • Main text
  • jcm-08-00692.pdf
View BVdb publication page



Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.

Journal Of Clinical Medicine
Hong, Eun Pyo EP; Kim, Bong Jun BJ; Cho, Steve S SS; Yang, Jin Seo JS; Choi, Hyuk Jai HJ; Kang, Suk Hyung SH; Jeon, Jin Pyeong JP
Publication Date: 2019-02-25

Variant appearance in text: rs700651
PubMed Link: 30823506
Variant Present in the following documents:
  • Main text
  • jcm-08-00275.pdf
  • jcm-08-00275-s001.pdf
View BVdb publication page



Advancing stroke genomic research in the age of Trans-Omics big data science: Emerging priorities and opportunities.

Journal Of The Neurological Sciences
Owolabi, Mayowa M; Peprah, Emmanuel E; Xu, Huichun H; Akinyemi, Rufus R; Tiwari, Hemant K HK; Irvin, Marguerite R MR; Wahab, Kolawole Wasiu KW; Arnett, Donna K DK; Ovbiagele, Bruce B
Publication Date: 2017-11-15

Variant appearance in text: rs700651
PubMed Link: 29111012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toward Understanding Non-coding RNA Roles in Intracranial Aneurysms and Subarachnoid Hemorrhage.

Translational Neuroscience
Huang, Fengzhen F; Yi, Jiping J; Zhou, Tieqiao T; Gong, Xiaoxiang X; Jiang, Hong H; Yao, Xiaoxi X
Publication Date: 2017

Variant appearance in text: rs700651
PubMed Link: 28729919
Variant Present in the following documents:
  • Main text
  • tnsci-08-054.pdf
View BVdb publication page



Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

Journal Of The American Heart Association
van 't Hof, Femke N G FN; Ruigrok, Ynte M YM; Lee, Cue Hyunkyu CH; Ripke, Stephan S; Anderson, Graig G; de Andrade, Mariza M; Baas, Annette F AF; Blankensteijn, Jan D JD; Böttinger, Erwin P EP; Bown, Matthew J MJ; Broderick, Joseph J; Bijlenga, Philippe P; Carrell, David S DS; Crawford, Dana C DC; Crosslin, David R DR; Ebeling, Christian C; Eriksson, Johan G JG; Fornage, Myriam M; Foroud, Tatiana T; von Und Zu Fraunberg, Mikael M; Friedrich, Christoph M CM; Gaál, Emília I EI; Gottesman, Omri O; Guo, Dong-Chuan DC; Harrison, Seamus C SC; Hernesniemi, Juha J; Hofman, Albert A; Inoue, Ituro I; Jääskeläinen, Juha E JE; Jones, Gregory T GT; Kiemeney, Lambertus A L M LA; Kivisaari, Riku R; Ko, Nerissa N; Koskinen, Seppo S; Kubo, Michiaki M; Kullo, Iftikhar J IJ; Kuivaniemi, Helena H; Kurki, Mitja I MI; Laakso, Aki A; Lai, Dongbing D; Leal, Suzanne M SM; Lehto, Hanna H; LeMaire, Scott A SA; Low, Siew-Kee SK; Malinowski, Jennifer J; McCarty, Catherine A CA; Milewicz, Dianna M DM; Mosley, Thomas H TH; Nakamura, Yusuke Y; Nakaoka, Hirofumi H; Niemelä, Mika M; Pacheco, Jennifer J; Peissig, Peggy L PL; Pera, Joanna J; Rasmussen-Torvik, Laura L; Ritchie, Marylyn D MD; Rivadeneira, Fernando F; van Rij, Andre M AM; Santos-Cortez, Regie Lyn P RL; Saratzis, Athanasios A; Slowik, Agnieszka A; Takahashi, Atsushi A; Tromp, Gerard G; Uitterlinden, André G AG; Verma, Shefali S SS; Vermeulen, Sita H SH; Wang, Gao T GT; , ; Han, Buhm B; Rinkel, Gabriël J E GJ; de Bakker, Paul I W PI
Publication Date: 2016-07-14

Variant appearance in text: rs700651
PubMed Link: 27418160
Variant Present in the following documents:
  • Main text
  • JAH3-5-e002603.pdf
View BVdb publication page



Molecular mechanisms of the formation and progression of intracranial aneurysms.

Neurologia Medico-Chirurgica
Kataoka, Hiroharu H
Publication Date: 2015

Variant appearance in text: rs700651
PubMed Link: 25761423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular basis and genetic predisposition to intracranial aneurysm.

Annals Of Medicine
Tromp, Gerard G; Weinsheimer, Shantel S; Ronkainen, Antti A; Kuivaniemi, Helena H
Publication Date: 2014-12

Variant appearance in text: rs700651
PubMed Link: 25117779
Variant Present in the following documents:
  • Main text
  • sann46_597.pdf
View BVdb publication page



High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms.

Plos Genetics
Kurki, Mitja I MI; Gaál, Emília Ilona EI; Kettunen, Johannes J; Lappalainen, Tuuli T; Menelaou, Androniki A; Anttila, Verneri V; van 't Hof, Femke N G FN; von Und Zu Fraunberg, Mikael M; Helisalmi, Seppo S; Hiltunen, Mikko M; Lehto, Hanna H; Laakso, Aki A; Kivisaari, Riku R; Koivisto, Timo T; Ronkainen, Antti A; Rinne, Jaakko J; Kiemeney, Lambertus A L LA; Vermeulen, Sita H SH; Kaunisto, Mari A MA; Eriksson, Johan G JG; Aromaa, Arpo A; Perola, Markus M; Lehtimäki, Terho T; Raitakari, Olli T OT; Salomaa, Veikko V; Gunel, Murat M; Dermitzakis, Emmanouil T ET; Ruigrok, Ynte M YM; Rinkel, Gabriel J E GJ; Niemelä, Mika M; Hernesniemi, Juha J; Ripatti, Samuli S; de Bakker, Paul I W PI; Palotie, Aarno A; Jääskeläinen, Juha E JE
Publication Date: 2014-01

Variant appearance in text: rs700651
PubMed Link: 24497844
Variant Present in the following documents:
  • Main text
  • pgen.1004134.pdf
View BVdb publication page



Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals.

Neurology
Alg, Varinder S VS; Sofat, Reecha R; Houlden, Henry H; Werring, David J DJ
Publication Date: 2013-06-04

Variant appearance in text: rs700651
PubMed Link: 23733552
Variant Present in the following documents:
  • Main text
View BVdb publication page



Current genomics in cardiovascular medicine.

Current Genomics
Sawhney, Vinit V; Brouilette, Scott S; Abrams, Dominic D; Schilling, Richard R; O'Brien, Benjamin B
Publication Date: 2012-09

Variant appearance in text: rs700651
PubMed Link: 23450299
Variant Present in the following documents:
  • Main text
  • CG-6-446.pdf
View BVdb publication page



The relationship between smoking and replicated sequence variants on chromosomes 8 and 9 with familial intracranial aneurysm.

Stroke
Deka, Ranjan R; Koller, Daniel L DL; Lai, Dongbing D; Indugula, Subba Rao SR; Sun, Guangyun G; Woo, Daniel D; Sauerbeck, Laura L; Moomaw, Charles J CJ; Hornung, Richard R; Connolly, E Sander ES; Anderson, Craig C; Rouleau, Guy G; Meissner, Irene I; Bailey-Wilson, Joan E JE; Huston, John J; Brown, Robert D RD; Kleindorfer, Dawn O DO; Flaherty, Matthew L ML; Langefeld, Carl D CD; Foroud, Tatiana T; Broderick, Joseph P JP; ,
Publication Date: 2010-06

Variant appearance in text: rs700651
PubMed Link: 20190001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Susceptibility loci for intracranial aneurysm in European and Japanese populations.

Nature Genetics
Bilguvar, Kaya K; Yasuno, Katsuhito K; Niemelä, Mika M; Ruigrok, Ynte M YM; von Und Zu Fraunberg, Mikael M; van Duijn, Cornelia M CM; van den Berg, Leonard H LH; Mane, Shrikant S; Mason, Christopher E CE; Choi, Murim M; Gaál, Emília E; Bayri, Yasar Y; Kolb, Luis L; Arlier, Zulfikar Z; Ravuri, Sudhakar S; Ronkainen, Antti A; Tajima, Atsushi A; Laakso, Aki A; Hata, Akira A; Kasuya, Hidetoshi H; Koivisto, Timo T; Rinne, Jaakko J; Ohman, Juha J; Breteler, Monique M B MM; Wijmenga, Cisca C; State, Matthew W MW; Rinkel, Gabriel J E GJ; Hernesniemi, Juha J; Jääskeläinen, Juha E JE; Palotie, Aarno A; Inoue, Ituro I; Lifton, Richard P RP; Günel, Murat M
Publication Date: 2008-12

Variant appearance in text: rs700651
PubMed Link: 18997786
Variant Present in the following documents:
  • Main text
View BVdb publication page