Publications:

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ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.

Frontiers In Neurology

Wang, Yu Y; Duan, Xiaohui X; Zhou, Xiao X; Wang, Renbin R; Zhang, Xiangfei X; Cao, Zhenhua Z; Wang, Xiaoxia X; Zhou, Zhi Z; Sun, Yu Y; Peng, Dantao D

Publication Date: 2022

Variant appearance in text: ANXA11: Arg210Gln

PubMed Link: 36226077

Variant Present in the following documents:

• Main text
• fneur-13-886887.pdf

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Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Biomedical Reports

Aitkulova, Akbota A; Mukhtarova, Kymbat K; Zholdybayeva, Elena E; Medetov, Yerkin Y; Dzhamantayeva, Botagoz B; Kassymbek, Kuat K; Utupov, Talgat T; Akhmetollayev, Ilyas I; Akshulakov, Serik S; Kulmambetova, Gulmira G; Ramankulov, Yerlan Y

Publication Date: 2022-08

Variant appearance in text: ANXA11: R210Q; rs147610631

PubMed Link: 35815187

Variant Present in the following documents:

• Supplementary_Data.xlsx, sheet 1

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: ANXA11: R210Q

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Journal Of Medical Genetics

Chen, Yong-Ping YP; Yu, Shi-Hui SH; Wei, Qian-Qian QQ; Cao, Bei B; Gu, Xiao-Jing XJ; Chen, Xue-Ping XP; Song, Wei W; Zhao, Bi B; Wu, Ying Y; Sun, Ming-Ming MM; Liu, Fei-Fei FF; Hou, Yan-Bing YB; Ou, Ru-Wei RW; Zhang, Ling-Yu LY; Liu, Kun-Cheng KC; Lin, Jun-Yu JY; Xu, Xin-Ran XR; Li, Chun-Yu CY; Yang, Jing J; Jiang, Zheng Z; Liu, Jiao J; Cheng, Yang-Fan YF; Xiao, Yi Y; Chen, Ke K; Feng, Fei F; Cai, Ying-Ying YY; Li, Shi-Rong SR; Hu, Tao T; Yuan, Xiao-Qin XQ; Guo, Xiao-Yan XY; Liu, Hui H; Han, Qing Q; Zhou, Qing-Qing QQ; Shao, Na N; Li, Jian-Peng JP; Pan, Ping-Lei PL; Ma, Sha S; Shang, Hui-Fang HF

Publication Date: 2022-09

Variant appearance in text: ANXA11: 629G>A; Arg210Gln; rs147610631

PubMed Link: 34544842

Variant Present in the following documents:

• jmedgenet-2021-107965supp002.pdf

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: ANXA11: R210Q

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: ANXA11: 629G>A; R210Q; rs147610631

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: ANXA11: R210Q

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Amino Acids

Nava, Caroline C; Rupp, Johanna J; Boissel, Jean-Paul JP; Mignot, Cyril C; Rastetter, Agnès A; Amiet, Claire C; Jacquette, Aurélia A; Dupuits, Céline C; Bouteiller, Delphine D; Keren, Boris B; Ruberg, Merle M; Faudet, Anne A; Doummar, Diane D; Philippe, Anne A; Périsse, Didier D; Laurent, Claudine C; Lebrun, Nicolas N; Guillemot, Vincent V; Chelly, Jamel J; Cohen, David D; Héron, Delphine D; Brice, Alexis A; Closs, Ellen I EI; Depienne, Christel C

Publication Date: 2015-12

Variant appearance in text: ANXA11: R210Q

PubMed Link: 26215737

Variant Present in the following documents:

• 726_2015_2057_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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