Publications:

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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: rs11006132

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Mitochondria-related TFAM gene variants and their effects on patients with cervical cancer.

Biomedical Reports

Golubickaite, Ieva I; Ugenskiene, Rasa R; Cepaite, Juste J; Ziliene, Egle E; Inciura, Arturas A; Poskiene, Lina L; Juozaityte, Elona E

Publication Date: 2021-12

Variant appearance in text: rs11006132

PubMed Link: 34765190

Variant Present in the following documents:

• Main text
• br-15-06-01482.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs11006132

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits.

American Journal Of Human Genetics

Kraja, Aldi T AT; Liu, Chunyu C; Fetterman, Jessica L JL; Graff, Mariaelisa M; Have, Christian Theil CT; Gu, Charles C; Yanek, Lisa R LR; Feitosa, Mary F MF; Arking, Dan E DE; Chasman, Daniel I DI; Young, Kristin K; Ligthart, Symen S; Hill, W David WD; Weiss, Stefan S; Luan, Jian'an J; Giulianini, Franco F; Li-Gao, Ruifang R; Hartwig, Fernando P FP; Lin, Shiow J SJ; Wang, Lihua L; Richardson, Tom G TG; Yao, Jie J; Fernandez, Eliana P EP; Ghanbari, Mohsen M; Wojczynski, Mary K MK; Lee, Wen-Jane WJ; Argos, Maria M; Armasu, Sebastian M SM; Barve, Ruteja A RA; Ryan, Kathleen A KA; An, Ping P; Baranski, Thomas J TJ; Bielinski, Suzette J SJ; Bowden, Donald W DW; Broeckel, Ulrich U; Christensen, Kaare K; Chu, Audrey Y AY; Corley, Janie J; Cox, Simon R SR; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Cropp, Cheryl D CD; Daw, E Warwick EW; van Heemst, Diana D; de Las Fuentes, Lisa L; Gao, He H; Tzoulaki, Ioanna I; Ahluwalia, Tarunveer S TS; de Mutsert, Renée R; Emery, Leslie S LS; Erzurumluoglu, A Mesut AM; Perry, James A JA; Fu, Mao M; Forouhi, Nita G NG; Gu, Zhenglong Z; Hai, Yang Y; Harris, Sarah E SE; Hemani, Gibran G; Hunt, Steven C SC; Irvin, Marguerite R MR; Jonsson, Anna E AE; Justice, Anne E AE; Kerrison, Nicola D ND; Larson, Nicholas B NB; Lin, Keng-Hung KH; Love-Gregory, Latisha D LD; Mathias, Rasika A RA; Lee, Joseph H JH; Nauck, Matthias M; Noordam, Raymond R; Ong, Ken K KK; Pankow, James J; Patki, Amit A; Pattie, Alison A; Petersmann, Astrid A; Qi, Qibin Q; Ribel-Madsen, Rasmus R; Rohde, Rebecca R; Sandow, Kevin K; Schnurr, Theresia M TM; Sofer, Tamar T; Starr, John M JM; Taylor, Adele M AM; Teumer, Alexander A; Timpson, Nicholas J NJ; de Haan, Hugoline G HG; Wang, Yujie Y; Weeke, Peter E PE; Williams, Christine C; Wu, Hongsheng H; Yang, Wei W; Zeng, Donglin D; Witte, Daniel R DR; Weir, Bruce S BS; Wareham, Nicholas J NJ; Vestergaard, Henrik H; Turner, Stephen T ST; Torp-Pedersen, Christian C; Stergiakouli, Evie E; Sheu, Wayne Huey-Herng WH; Rosendaal, Frits R FR; Ikram, M Arfan MA; Franco, Oscar H OH; Ridker, Paul M PM; Perls, Thomas T TT; Pedersen, Oluf O; Nohr, Ellen A EA; Newman, Anne B AB; Linneberg, Allan A; Langenberg, Claudia C; Kilpeläinen, Tuomas O TO; Kardia, Sharon L R SLR; Jørgensen, Marit E ME; Jørgensen, Torben T; Sørensen, Thorkild I A TIA; Homuth, Georg G; Hansen, Torben T; Goodarzi, Mark O MO; Deary, Ian J IJ; Christensen, Cramer C; Chen, Yii-Der Ida YI; Chakravarti, Aravinda A; Brandslund, Ivan I; Bonnelykke, Klaus K; Taylor, Kent D KD; Wilson, James G JG; Rodriguez, Santiago S; Davies, Gail G; Horta, Bernardo L BL; Thyagarajan, Bharat B; Rao, D C DC; Grarup, Niels N; Davila-Roman, Victor G VG; Hudson, Gavin G; Guo, Xiuqing X; Arnett, Donna K DK; Hayward, Caroline C; Vaidya, Dhananjay D; Mook-Kanamori, Dennis O DO; Tiwari, Hemant K HK; Levy, Daniel D; Loos, Ruth J F RJF; Dehghan, Abbas A; Elliott, Paul P; Malik, Afshan N AN; Scott, Robert A RA; Becker, Diane M DM; de Andrade, Mariza M; Province, Michael A MA; Meigs, James B JB; Rotter, Jerome I JI; North, Kari E KE

Publication Date: 2019-01-03

Variant appearance in text: rs11006132

PubMed Link: 30595373

Variant Present in the following documents:

• Main text

View BVdb publication page

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Brain-Wide Genome-Wide Association Study for Alzheimer's Disease via Joint Projection Learning and Sparse Regression Model.

Ieee Transactions On Bio-Medical Engineering

Zhou, Tao T; Thung, Kim-Han KH; Liu, Mingxia M; Shen, Dinggang D

Publication Date: 2019-01

Variant appearance in text: rs11006132

PubMed Link: 29993426

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Control over mtDNA and Its Relationship to Major Depressive Disorder.

Current Biology : Cb

Cai, Na N; Li, Yihan Y; Chang, Simon S; Liang, Jieqin J; Lin, Chongyun C; Zhang, Xiufei X; Liang, Lu L; Hu, Jingchu J; Chan, Wharton W; Kendler, Kenneth S KS; Malinauskas, Tomas T; Huang, Guo-Jen GJ; Li, Qibin Q; Mott, Richard R; Flint, Jonathan J

Publication Date: 2015-12-21

Variant appearance in text: rs11006132

PubMed Link: 26687620

Variant Present in the following documents:

• mmc2.pdf
• mmc1.pdf

View BVdb publication page

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PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease.

Molecular Neurodegeneration

Taherzadeh-Fard, Elahe E; Saft, Carsten C; Akkad, Denis A DA; Wieczorek, Stefan S; Haghikia, Aiden A; Chan, Andrew A; Epplen, Jörg T JT; Arning, Larissa L

Publication Date: 2011-05-19

Variant appearance in text: rs11006132

PubMed Link: 21595933

Variant Present in the following documents:

• Main text
• 1750-1326-6-32.pdf

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Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Nucleic Acids Research

Wang, Wenyi W; Shen, Peidong P; Thiyagarajan, Sreedevi S; Lin, Shengrong S; Palm, Curtis C; Horvath, Rita R; Klopstock, Thomas T; Cutler, David D; Pique, Lynn L; Schrijver, Iris I; Davis, Ronald W RW; Mindrinos, Michael M; Speed, Terence P TP; Scharfe, Curt C

Publication Date: 2011-01

Variant appearance in text: rs11006132

PubMed Link: 20843780

Variant Present in the following documents:

• supp_gkq750_NAR-WangWetal-SuppTable-6.xls, sheet 1

View BVdb publication page

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