PMF1-BGLAP c.162-4731C>T

Variant ID: 1-156197380-C-T

NM_001199662.1(PMF1-BGLAP):c.162-4731C>T

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Dissecting Polygenic Etiology of Ischemic Stroke in the Era of Precision Medicine.

Journal Of Clinical Medicine
Li, Jiang J; Abedi, Vida V; Zand, Ramin R
Publication Date: 2022-10-11

Variant appearance in text: rs2984613
PubMed Link: 36294301
Variant Present in the following documents:
  • jcm-11-05980.pdf
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Intracerebral Hemorrhage Genetics.

Genes
Ekkert, Aleksandra A; Šliachtenko, Aleksandra A; Utkus, Algirdas A; Jatužis, Dalius D
Publication Date: 2022-07-15

Variant appearance in text: rs2984613
PubMed Link: 35886033
Variant Present in the following documents:
  • Main text
  • genes-13-01250.pdf
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Genetics and Epigenetics of Spontaneous Intracerebral Hemorrhage.

International Journal Of Molecular Sciences
Giralt-Steinhauer, Eva E; Jiménez-Balado, Joan J; Fernández-Pérez, Isabel I; Rey Álvarez, Lucía L; Rodríguez-Campello, Ana A; Ois, Ángel Á; Cuadrado-Godia, Elisa E; Jiménez-Conde, Jordi J; Roquer, Jaume J
Publication Date: 2022-06-09

Variant appearance in text: rs2984613
PubMed Link: 35742924
Variant Present in the following documents:
  • Main text
  • ijms-23-06479.pdf
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Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate.

Brain : A Journal Of Neurology
Mishra, Aniket A; Duplaà, Cécile C; Vojinovic, Dina D; Suzuki, Hideaki H; Sargurupremraj, Muralidharan M; Zilhão, Nuno R NR; Li, Shuo S; Bartz, Traci M TM; Jian, Xueqiu X; Zhao, Wei W; Hofer, Edith E; Wittfeld, Katharina K; Harris, Sarah E SE; van der Auwera-Palitschka, Sandra S; Luciano, Michelle M; Bis, Joshua C JC; Adams, Hieab H H HHH; Satizabal, Claudia L CL; Gottesman, Rebecca F RF; Gampawar, Piyush G PG; Bülow, Robin R; Weiss, Stefan S; Yu, Miao M; Bastin, Mark E ME; Lopez, Oscar L OL; Vernooij, Meike W MW; Beiser, Alexa S AS; Völker, Uwe U; Kacprowski, Tim T; Soumare, Aicha A; Smith, Jennifer A JA; Knopman, David S DS; Morris, Zoe Z; Zhu, Yicheng Y; Rotter, Jerome I JI; Dufouil, Carole C; Valdés Hernández, Maria M; Muñoz Maniega, Susana S; Lathrop, Mark M; Boerwinkle, Erik E; Schmidt, Reinhold R; Ihara, Masafumi M; Mazoyer, Bernard B; Yang, Qiong Q; Joutel, Anne A; Tournier-Lasserve, Elizabeth E; Launer, Lenore J LJ; Deary, Ian J IJ; Mosley, Thomas H TH; Amouyel, Philippe P; DeCarli, Charles S CS; Psaty, Bruce M BM; Tzourio, Christophe C; Kardia, Sharon L R SLR; Grabe, Hans J HJ; Teumer, Alexander A; van Duijn, Cornelia M CM; Schmidt, Helena H; Wardlaw, Joanna M JM; Ikram, M Arfan MA; Fornage, Myriam M; Gudnason, Vilmundur V; Seshadri, Sudha S; Matthews, Paul M PM; Longstreth, William T WT; Couffinhal, Thierry T; Debette, Stephanie S
Publication Date: 2022-06-30

Variant appearance in text: rs2984613
PubMed Link: 35511193
Variant Present in the following documents:
  • awab432_supplementary_data.pdf
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Genetics of Spontaneous Intracerebral Hemorrhage: Risk and Outcome.

Frontiers In Neuroscience
Guo, Hongxiu H; You, Mingfeng M; Wu, Jiehong J; Chen, Anqi A; Wan, Yan Y; Gu, Xinmei X; Tan, Senwei S; Xu, Yating Y; He, Quanwei Q; Hu, Bo B
Publication Date: 2022

Variant appearance in text: rs2984613
PubMed Link: 35478846
Variant Present in the following documents:
  • Main text
  • fnins-16-874962.pdf
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Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.

The Lancet. Neurology
Traylor, Matthew M; Persyn, Elodie E; Tomppo, Liisa L; Klasson, Sofia S; Abedi, Vida V; Bakker, Mark K MK; Torres, Nuria N; Li, Linxin L; Bell, Steven S; Rutten-Jacobs, Loes L; Tozer, Daniel J DJ; Griessenauer, Christoph J CJ; Zhang, Yanfei Y; Pedersen, Annie A; Sharma, Pankaj P; Jimenez-Conde, Jordi J; Rundek, Tatjana T; Grewal, Raji P RP; Lindgren, Arne A; Meschia, James F JF; Salomaa, Veikko V; Havulinna, Aki A; Kourkoulis, Christina C; Crawford, Katherine K; Marini, Sandro S; Mitchell, Braxton D BD; Kittner, Steven J SJ; Rosand, Jonathan J; Dichgans, Martin M; Jern, Christina C; Strbian, Daniel D; Fernandez-Cadenas, Israel I; Zand, Ramin R; Ruigrok, Ynte Y; Rost, Natalia N; Lemmens, Robin R; Rothwell, Peter M PM; Anderson, Christopher D CD; Wardlaw, Joanna J; Lewis, Cathryn M CM; Markus, Hugh S HS; , ; , ; , ; ,
Publication Date: 2021-05

Variant appearance in text: rs2984613
PubMed Link: 33773637
Variant Present in the following documents:
  • Main text
  • main.pdf
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Integrated genetic analyses revealed novel human longevity loci and reduced risks of multiple diseases in a cohort study of 15,651 Chinese individuals.

Aging Cell
Liu, Xiaomin X; Song, Zijun Z; Li, Yan Y; Yao, Yao Y; Fang, Mingyan M; Bai, Chen C; An, Peng P; Chen, Huashuai H; Chen, Zhihua Z; Tang, Biyao B; Shen, Juan J; Gao, Xiaotong X; Zhang, Mingrong M; Chen, Pengyu P; Zhang, Tao T; Jia, Huijue H; Liu, Xiao X; Hou, Yong Y; Yang, Huanming H; Wang, Jian J; Wang, Fudi F; Xu, Xun X; Min, Junxia J; Nie, Chao C; Zeng, Yi Y
Publication Date: 2021-03

Variant appearance in text: rs2984613
PubMed Link: 33657282
Variant Present in the following documents:
  • ACEL-20-e13323-s014.xlsx, sheet 1
View BVdb publication page



Replication of Top Loci From COL4A1/2 Associated With White Matter Hyperintensity Burden in Patients With Ischemic Stroke.

Stroke
Li, Jiang J; Abedi, Vida V; , ; Zand, Ramin R; Griessenauer, Christoph J CJ
Publication Date: 2020-12

Variant appearance in text: rs2984613
PubMed Link: 33148145
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of common genetic variants with brain microbleeds: A genome-wide association study.

Neurology
Knol, Maria J MJ; Lu, Dongwei D; Traylor, Matthew M; Adams, Hieab H H HHH; Romero, José Rafael J JRJ; Smith, Albert V AV; Fornage, Myriam M; Hofer, Edith E; Liu, Junfeng J; Hostettler, Isabel C IC; Luciano, Michelle M; Trompet, Stella S; Giese, Anne-Katrin AK; Hilal, Saima S; van den Akker, Erik B EB; Vojinovic, Dina D; Li, Shuo S; Sigurdsson, Sigurdur S; van der Lee, Sven J SJ; Jack, Clifford R CR; Wilson, Duncan D; Yilmaz, Pinar P; Satizabal, Claudia L CL; Liewald, David C M DCM; van der Grond, Jeroen J; Chen, Christopher C; Saba, Yasaman Y; van der Lugt, Aad A; Bastin, Mark E ME; Windham, B Gwen BG; Cheng, Ching Yu CY; Pirpamer, Lukas L; Kantarci, Kejal K; Himali, Jayandra J JJ; Yang, Qiong Q; Morris, Zoe Z; Beiser, Alexa S AS; Tozer, Daniel J DJ; Vernooij, Meike W MW; Amin, Najaf N; Beekman, Marian M; Koh, Jia Yu JY; Stott, David J DJ; Houlden, Henry H; Schmidt, Reinhold R; Gottesman, Rebecca F RF; MacKinnon, Andrew D AD; DeCarli, Charles C; Gudnason, Vilmundur V; Deary, Ian J IJ; van Duijn, Cornelia M CM; Slagboom, P Eline PE; Wong, Tien Yin TY; Rost, Natalia S NS; Jukema, J Wouter JW; Mosley, Thomas H TH; Werring, David J DJ; Schmidt, Helena H; Wardlaw, Joanna M JM; Ikram, M Arfan MA; Seshadri, Sudha S; Launer, Lenore J LJ; Markus, Hugh S HS; ,
Publication Date: 2020-12-15

Variant appearance in text: rs2984613
PubMed Link: 32913026
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2019043927.pdf
View BVdb publication page



GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease.

Aging
Jia, Xiaodong X; Shao, Libin L; Liu, Chengcheng C; Chen, Tuanzhi T; Peng, Ling L; Cao, Yinguang Y; Zhang, Chuanchen C; Yang, Xiafeng X; Zhang, Guifeng G; Gao, Jianlu J; Fan, Guangyi G; Gu, Mingliang M; Du, Hongli H; Xia, Zhangyong Z
Publication Date: 2020-03-03

Variant appearance in text: rs2984613
PubMed Link: 32126021
Variant Present in the following documents:
  • aging-12-102879.pdf
View BVdb publication page



Genetic risk of Spontaneous intracerebral hemorrhage: Systematic review and future directions.

Journal Of The Neurological Sciences
Wahab, Kolawole Wasiu KW; Tiwari, Hemant K HK; Ovbiagele, Bruce B; Sarfo, Fred F; Akinyemi, Rufus R; Traylor, Matthew M; Rotimi, Charles C; Markus, Hugh Stephen HS; Owolabi, Mayowa M
Publication Date: 2019-12-15

Variant appearance in text: rs2984613
PubMed Link: 31669726
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Associations of PMF1, ICAM1, AGT, TRIM65, FBF1, and ACOX1 Variants With Leukoaraiosis in Chinese Population.

Frontiers In Genetics
Huang, Wen-Qing WQ; Ye, Hui-Ming HM; Cai, Liang-Liang LL; Ma, Qi-Lin QL; Lu, Cong-Xia CX; Tong, Sui-Jun SJ; Tzeng, Chi-Meng CM; Lin, Qing Q
Publication Date: 2019

Variant appearance in text: rs2984613
PubMed Link: 31396257
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 2
  • fgene-10-00615.pdf
  • Table_1.xlsx, sheet 1
View BVdb publication page



Emerging insights from the genetics of cerebral small-vessel disease.

Annals Of The New York Academy Of Sciences
Rutten-Jacobs, Loes C A LCA; Rost, Natalia S NS
Publication Date: 2020-07

Variant appearance in text: rs2984613
PubMed Link: 30618052
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Polymorphisms Associated with Spontaneous Intracerebral Hemorrhage.

International Journal Of Molecular Sciences
Chen, Yi-Chun YC; Chang, Kuo-Hsuan KH; Chen, Chiung-Mei CM
Publication Date: 2018-12-04

Variant appearance in text: rs2984613
PubMed Link: 30518145
Variant Present in the following documents:
  • Main text
  • ijms-19-03879.pdf
View BVdb publication page



Advances in Understanding the Pathophysiology of Lacunar Stroke: A Review.

Jama Neurology
Regenhardt, Robert W RW; Das, Alvin S AS; Lo, Eng H EH; Caplan, Louis R LR
Publication Date: 2018-10-01

Variant appearance in text: rs2984613
PubMed Link: 30167649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypertension and Cerebral Microangiopathy (Cerebral Small Vessel Disease): Genetic and Epigenetic Aspects of Their Relationship.

Acta Naturae
Dobrynina, L A LA; Zabitova, M R MR; Kalashnikova, L A LA; Gnedovskaya, E V EV; Piradov, M A MA
Publication Date: 2018

Variant appearance in text: rs2984613
PubMed Link: 30116610
Variant Present in the following documents:
  • Main text
  • AN20758251-10-02-004.pdf
View BVdb publication page



Genetics of Spontaneous Intracerebral Hemorrhage.

Stroke
Falcone, Guido J GJ; Woo, Daniel D
Publication Date: 2017-12

Variant appearance in text: rs2984613
PubMed Link: 29114093
Variant Present in the following documents:
  • Main text
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: rs2984613
PubMed Link: 29111012
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole blood gene expression and white matter Hyperintensities.

Molecular Neurodegeneration
Lin, Honghuang H; Satizabal, Claudia C; Xie, Zhijun Z; Yang, Qiong Q; Huan, Tianxiao T; Joehanes, Roby R; Wen, Chengping C; Munson, Peter J PJ; Beiser, Alexa A; Levy, Daniel D; Seshadri, Sudha S
Publication Date: 2017-09-18

Variant appearance in text: rs2984613
PubMed Link: 28923099
Variant Present in the following documents:
  • Main text
  • 13024_2017_Article_209.pdf
View BVdb publication page



Genetics of stroke in a UK African ancestry case-control study: South London Ethnicity and Stroke Study.

Neurology. Genetics
Traylor, Matthew M; Rutten-Jacobs, Loes L; Curtis, Charles C; Patel, Hamel H; Breen, Gerome G; Newhouse, Stephen S; Lewis, Cathryn M CM; Markus, Hugh S HS
Publication Date: 2017-04

Variant appearance in text: rs2984613
PubMed Link: 28349126
Variant Present in the following documents:
  • NG2016003749.pdf
View BVdb publication page



Genetic Risk Factors for Ischemic and Hemorrhagic Stroke.

Current Cardiology Reports
Chauhan, Ganesh G; Debette, Stéphanie S
Publication Date: 2016-12

Variant appearance in text: rs2984613
PubMed Link: 27796860
Variant Present in the following documents:
  • Main text
  • 11886_2016_Article_804.pdf
View BVdb publication page



Genetic Associations With White Matter Hyperintensities Confer Risk of Lacunar Stroke.

Stroke
Traylor, Matthew M; Rutten-Jacobs, Loes C A LC; Thijs, Vincent V; Holliday, Elizabeth G EG; Levi, Chris C; Bevan, Steve S; Malik, Rainer R; Boncoraglio, Giorgio G; Sudlow, Cathie C; Rothwell, Peter M PM; Dichgans, Martin M; Markus, Hugh S HS
Publication Date: 2016-05

Variant appearance in text: rs2984613
PubMed Link: 27073246
Variant Present in the following documents:
  • Main text
  • str-47-1174.pdf
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Genome-wide meta-analysis of cerebral white matter hyperintensities in patients with stroke.

Neurology
Traylor, Matthew M; Zhang, Cathy R CR; Adib-Samii, Poneh P; Devan, William J WJ; Parsons, Owen E OE; Lanfranconi, Silvia S; Gregory, Sarah S; Cloonan, Lisa L; Falcone, Guido J GJ; Radmanesh, Farid F; Fitzpatrick, Kaitlin K; Kanakis, Allison A; Barrick, Thomas R TR; Moynihan, Barry B; Lewis, Cathryn M CM; Boncoraglio, Giorgio B GB; Lemmens, Robin R; Thijs, Vincent V; Sudlow, Cathie C; Wardlaw, Joanna J; Rothwell, Peter M PM; Meschia, James F JF; Worrall, Bradford B BB; Levi, Christopher C; Bevan, Steve S; Furie, Karen L KL; Dichgans, Martin M; Rosand, Jonathan J; Markus, Hugh S HS; Rost, Natalia N; ,
Publication Date: 2016-01-12

Variant appearance in text: rs2984613
PubMed Link: 26674333
Variant Present in the following documents:
  • Main text
  • NEUROLOGY2015657247.pdf
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Genetic factors in cerebral small vessel disease and their impact on stroke and dementia.

Journal Of Cerebral Blood Flow And Metabolism : Official Journal Of The International Society Of Cerebral Blood Flow And Metabolism
Haffner, Christof C; Malik, Rainer R; Dichgans, Martin M
Publication Date: 2016-01

Variant appearance in text: rs2984613
PubMed Link: 25899296
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of cerebral small vessel disease.

Journal Of Stroke
Choi, Jay Chol JC
Publication Date: 2015-01

Variant appearance in text: rs2984613
PubMed Link: 25692103
Variant Present in the following documents:
  • Main text
  • jos-17-7.pdf
View BVdb publication page



Multiethnic genome-wide association study of cerebral white matter hyperintensities on MRI.

Circulation. Cardiovascular Genetics
Verhaaren, Benjamin F J BF; Debette, Stéphanie S; Bis, Joshua C JC; Smith, Jennifer A JA; Ikram, M Kamran MK; Adams, Hieab H HH; Beecham, Ashley H AH; Rajan, Kumar B KB; Lopez, Lorna M LM; Barral, Sandra S; van Buchem, Mark A MA; van der Grond, Jeroen J; Smith, Albert V AV; Hegenscheid, Katrin K; Aggarwal, Neelum T NT; de Andrade, Mariza M; Atkinson, Elizabeth J EJ; Beekman, Marian M; Beiser, Alexa S AS; Blanton, Susan H SH; Boerwinkle, Eric E; Brickman, Adam M AM; Bryan, R Nick RN; Chauhan, Ganesh G; Chen, Christopher P L H CP; Chouraki, Vincent V; de Craen, Anton J M AJ; Crivello, Fabrice F; Deary, Ian J IJ; Deelen, Joris J; De Jager, Philip L PL; Dufouil, Carole C; Elkind, Mitchell S V MS; Evans, Denis A DA; Freudenberger, Paul P; Gottesman, Rebecca F RF; Guðnason, Vilmundur V; Habes, Mohamad M; Heckbert, Susan R SR; Heiss, Gerardo G; Hilal, Saima S; Hofer, Edith E; Hofman, Albert A; Ibrahim-Verbaas, Carla A CA; Knopman, David S DS; Lewis, Cora E CE; Liao, Jiemin J; Liewald, David C M DC; Luciano, Michelle M; van der Lugt, Aad A; Martinez, Oliver O OO; Mayeux, Richard R; Mazoyer, Bernard B; Nalls, Mike M; Nauck, Matthias M; Niessen, Wiro J WJ; Oostra, Ben A BA; Psaty, Bruce M BM; Rice, Kenneth M KM; Rotter, Jerome I JI; von Sarnowski, Bettina B; Schmidt, Helena H; Schreiner, Pamela J PJ; Schuur, Maaike M; Sidney, Stephen S SS; Sigurdsson, Sigurdur S; Slagboom, P Eline PE; Stott, David J M DJ; van Swieten, John C JC; Teumer, Alexander A; Töglhofer, Anna Maria AM; Traylor, Matthew M; Trompet, Stella S; Turner, Stephen T ST; Tzourio, Christophe C; Uh, Hae-Won HW; Uitterlinden, André G AG; Vernooij, Meike W MW; Wang, Jing J JJ; Wong, Tien Y TY; Wardlaw, Joanna M JM; Windham, B Gwen BG; Wittfeld, Katharina K; Wolf, Christiane C; Wright, Clinton B CB; Yang, Qiong Q; Zhao, Wei W; Zijdenbos, Alex A; Jukema, J Wouter JW; Sacco, Ralph L RL; Kardia, Sharon L R SL; Amouyel, Philippe P; Mosley, Thomas H TH; Longstreth, W T WT; DeCarli, Charles C CC; van Duijn, Cornelia M CM; Schmidt, Reinhold R; Launer, Lenore J LJ; Grabe, Hans J HJ; Seshadri, Sudha S SS; Ikram, M Arfan MA; Fornage, Myriam M
Publication Date: 2015-04

Variant appearance in text: rs2984613
PubMed Link: 25663218
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genome-wide association studies identifies 1q22 as a susceptibility locus for intracerebral hemorrhage.

American Journal Of Human Genetics
Woo, Daniel D; Falcone, Guido J GJ; Devan, William J WJ; Brown, W Mark WM; Biffi, Alessandro A; Howard, Timothy D TD; Anderson, Christopher D CD; Brouwers, H Bart HB; Valant, Valerie V; Battey, Thomas W K TW; Radmanesh, Farid F; Raffeld, Miriam R MR; Baedorf-Kassis, Sylvia S; Deka, Ranjan R; Woo, Jessica G JG; Martin, Lisa J LJ; Haverbusch, Mary M; Moomaw, Charles J CJ; Sun, Guangyun G; Broderick, Joseph P JP; Flaherty, Matthew L ML; Martini, Sharyl R SR; Kleindorfer, Dawn O DO; Kissela, Brett B; Comeau, Mary E ME; Jagiella, Jeremiasz M JM; Schmidt, Helena H; Freudenberger, Paul P; Pichler, Alexander A; Enzinger, Christian C; Hansen, Björn M BM; Norrving, Bo B; Jimenez-Conde, Jordi J; Giralt-Steinhauer, Eva E; Elosua, Roberto R; Cuadrado-Godia, Elisa E; Soriano, Carolina C; Roquer, Jaume J; Kraft, Peter P; Ayres, Alison M AM; Schwab, Kristin K; McCauley, Jacob L JL; Pera, Joanna J; Urbanik, Andrzej A; Rost, Natalia S NS; Goldstein, Joshua N JN; Viswanathan, Anand A; Stögerer, Eva-Maria EM; Tirschwell, David L DL; Selim, Magdy M; Brown, Devin L DL; Silliman, Scott L SL; Worrall, Bradford B BB; Meschia, James F JF; Kidwell, Chelsea S CS; Montaner, Joan J; Fernandez-Cadenas, Israel I; Delgado, Pilar P; Malik, Rainer R; Dichgans, Martin M; Greenberg, Steven M SM; Rothwell, Peter M PM; Lindgren, Arne A; Slowik, Agnieszka A; Schmidt, Reinhold R; Langefeld, Carl D CD; Rosand, Jonathan J; ,
Publication Date: 2014-04-03

Variant appearance in text: rs2984613
PubMed Link: 24656865
Variant Present in the following documents:
  • Main text
View BVdb publication page