TTN c.40_41delinsGC ;(p.S14A)

Variant ID: 2-179669329-CT-GC

NM_001267550.1(TTN):c.40_41delinsGC;(p.S14A)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Morphology Engineering of Hybrid Supercapacitor Electrodes from Hierarchical Stem-like Carbon Networks with Flower-like MoS2 Structures.

Acs Omega
Ji, Jaehoon J; Park, Sewon S; Choi, Jong Hyun JH
Publication Date: 2023-05-16

Variant appearance in text: TMD: S14a
PubMed Link: 37214723
Variant Present in the following documents:
  • Main text
  • ao3c00445.pdf
View BVdb publication page



Identification of Molecular Determinants in iRhoms1 and 2 That Contribute to the Substrate Selectivity of Stimulated ADAM17.

International Journal Of Molecular Sciences
Zhao, Yi Y; Dávila, Eliud Morales EM; Li, Xue X; Tang, Beiyu B; Rabinowitsch, Ariana I AI; Perez-Aguilar, Jose Manuel JM; Blobel, Carl P CP
Publication Date: 2022-10-24

Variant appearance in text: TMD: S14A
PubMed Link: 36361585
Variant Present in the following documents:
  • Main text
  • ijms-23-12796.pdf
View BVdb publication page



Identification of natural product 3, 5-diiodotyrosine as APOBEC3B inhibitor to prevent somatic mutation accumulation and cancer progression.

Journal For Immunotherapy Of Cancer
Chen, Chunxia C; Sui, Xinghua X; Ning, Haoming H; Sun, Yixuan Y; Du, Jiangfeng J; Chen, Xiaotong X; Zhou, Xiuman X; Chen, Guanyu G; Shen, Wenhui W; Pang, Liwei L; Zhou, Xiaowen X; Shi, Ranran R; Li, Wanqiong W; Wang, Hongfei H; Zhao, Wenshan W; Zhai, Wenjie W; Qi, Yuanming Y; Wu, Yahong Y; Gao, Yanfeng Y
Publication Date: 2022-11

Variant appearance in text: CMD1G: S14A
PubMed Link: 36323433
Variant Present in the following documents:
  • Main text
  • jitc-2022-005503.pdf
View BVdb publication page



Three-dimensional hierarchically porous MoS2 foam as high-rate and stable lithium-ion battery anode.

Nature Communications
Wei, Xuan X; Lin, Chia-Ching CC; Wu, Chuanwan C; Qaiser, Nadeem N; Cai, Yichen Y; Lu, Ang-Yu AY; Qi, Kai K; Fu, Jui-Han JH; Chiang, Yu-Hsiang YH; Yang, Zheng Z; Ding, Lianhui L; Ali, Ola S OS; Xu, Wei W; Zhang, Wenli W; Hassine, Mohamed Ben MB; Kong, Jing J; Chen, Han-Yi HY; Tung, Vincent V
Publication Date: 2022-10-12

Variant appearance in text: TMD: S14a
PubMed Link: 36224249
Variant Present in the following documents:
  • 41467_2022_33790_MOESM2_ESM.pdf
View BVdb publication page



Structural Insights into Porphyrin Recognition by the Human ATP-Binding Cassette Transporter ABCB6.

Molecules And Cells
Kim, Songwon S; Lee, Sang Soo SS; Park, Jun Gyou JG; Kim, Ji Won JW; Ju, Seulgi S; Choi, Seung Hun SH; Kim, Subin S; Kim, Na Jin NJ; Hong, Semi S; Kang, Jin Young JY; Jin, Mi Sun MS
Publication Date: 2022-08-31

Variant appearance in text: TMD: S14A
PubMed Link: 35950458
Variant Present in the following documents:
  • Main text
  • molce-45-8-575.pdf
View BVdb publication page



Integrated Bioinformatics Analysis of Serine Racemase as an Independent Prognostic Biomarker in Endometrial Cancer.

Frontiers In Genetics
Cui, Zhiwei Z; Mo, Jiantao J; Wang, Lijun L; Wang, Rongli R; Cheng, Feiyan F; Wang, Lihui L; Yang, Xinyuan X; Wang, Wei W
Publication Date: 2022

Variant appearance in text: TTN: S14A
PubMed Link: 35923695
Variant Present in the following documents:
  • Main text
  • fgene-13-906291.pdf
View BVdb publication page



Functional modulation of PTH1R activation and signaling by RAMP2.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Nemec, Katarina K; Schihada, Hannes H; Kleinau, Gunnar G; Zabel, Ulrike U; Grushevskyi, Eugene O EO; Scheerer, Patrick P; Lohse, Martin J MJ; Maiellaro, Isabella I
Publication Date: 2022-08-09

Variant appearance in text: TMD: S14A
PubMed Link: 35914163
Variant Present in the following documents:
  • pnas.202122037.pdf
View BVdb publication page



Molecular Mingling: Multimodal Predictions of Ligand Promiscuity in Pentameric Ligand-Gated Ion Channels.

Frontiers In Molecular Biosciences
Koniuszewski, Filip F; Vogel, Florian D FD; Bampali, Konstantina K; Fabjan, Jure J; Seidel, Thomas T; Scholze, Petra P; Schmiedhofer, Philip B PB; Langer, Thierry T; Ernst, Margot M
Publication Date: 2022

Variant appearance in text: TMD: S14A
PubMed Link: 35615739
Variant Present in the following documents:
  • Main text
  • fmolb-09-860246.pdf
View BVdb publication page



Machine-learning of complex evolutionary signals improves classification of SNVs.

Nar Genomics And Bioinformatics
Labes, Sapir S; Stupp, Doron D; Wagner, Naama N; Bloch, Idit I; Lotem, Michal M; L Lahad, Ephrat E; Polak, Paz P; Pupko, Tal T; Tabach, Yuval Y
Publication Date: 2022-06

Variant appearance in text: TTN: S14A
PubMed Link: 35402908
Variant Present in the following documents:
  • Main text
  • lqac025.pdf
View BVdb publication page



Structural Comparative Modeling of Multi-Domain F508del CFTR.

Biomolecules
McDonald, Eli Fritz EF; Woods, Hope H; Smith, Shannon T ST; Kim, Minsoo M; Schoeder, Clara T CT; Plate, Lars L; Meiler, Jens J
Publication Date: 2022-03-18

Variant appearance in text: TMD: S14A
PubMed Link: 35327663
Variant Present in the following documents:
  • Main text
  • biomolecules-12-00471.pdf
View BVdb publication page



CK2 Phosphorylation Is Required for Regulation of Syntaxin 1A Activity in Ca2+-Triggered Release in Neuroendocrine Cells.

International Journal Of Molecular Sciences
Barak-Broner, Noa N; Singer-Lahat, Dafna D; Chikvashvili, Dodo D; Lotan, Ilana I
Publication Date: 2021-12-17

Variant appearance in text: TMD: S14A
PubMed Link: 34948351
Variant Present in the following documents:
  • Main text
  • ijms-22-13556.pdf
View BVdb publication page



TM2D genes regulate Notch signaling and neuronal function in Drosophila.

Plos Genetics
Salazar, Jose L JL; Yang, Sheng-An SA; Lin, Yong Qi YQ; Li-Kroeger, David D; Marcogliese, Paul C PC; Deal, Samantha L SL; Neely, G Gregory GG; Yamamoto, Shinya S
Publication Date: 2021-12-14

Variant appearance in text: TMD: S14A
PubMed Link: 34905536
Variant Present in the following documents:
  • Main text
View BVdb publication page



TM2D genes regulate Notch signaling and neuronal function in Drosophila.

Plos Genetics
Salazar, Jose L JL; Yang, Sheng-An SA; Lin, Yong Qi YQ; Li-Kroeger, David D; Marcogliese, Paul C PC; Deal, Samantha L SL; Neely, G Gregory GG; Yamamoto, Shinya S
Publication Date: 2021-12

Variant appearance in text: TMD: S14A
PubMed Link: 34905536
Variant Present in the following documents:
  • Main text
View BVdb publication page



TNFSF13 Is a Novel Onco-Inflammatory Marker and Correlates With Immune Infiltration in Gliomas.

Frontiers In Immunology
Chen, Rui R; Wang, Xinxing X; Dai, Ziyu Z; Wang, Zeyu Z; Wu, Wantao W; Hu, Zhengang Z; Zhang, Xun X; Liu, Zhixiong Z; Zhang, Hao H; Cheng, Quan Q
Publication Date: 2021

Variant appearance in text: TTN: S14A
PubMed Link: 34712225
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of pyroptosis-related subtypes, the development of a prognosis model, and characterization of tumor microenvironment infiltration in colorectal cancer.

Oncoimmunology
Song, Wei W; Ren, Jun J; Xiang, Rensheng R; Kong, Can C; Fu, Tao T
Publication Date: 2021

Variant appearance in text: TTN: S14A
PubMed Link: 34676149
Variant Present in the following documents:
  • Main text
  • KONI_10_1987636.pdf
View BVdb publication page



Highly Sensitive, Ultrafast, and Broadband Photo-Detecting Field-Effect Transistor with Transition-Metal Dichalcogenide van der Waals Heterostructures of MoTe2 and PdSe2.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
Afzal, Amir Muhammad AM; Iqbal, Muhammad Zahir MZ; Dastgeer, Ghulam G; Ahmad, Aqrab Ul AU; Park, Byoungchoo B
Publication Date: 2021-06

Variant appearance in text: TMD: S14a
PubMed Link: 34105276
Variant Present in the following documents:
  • ADVS-8-2003713-s001.pdf
View BVdb publication page



Phospho-regulation, nucleotide binding and ion access control in potassium-chloride cotransporters.

The Embo Journal
Chi, Gamma G; Ebenhoch, Rebecca R; Man, Henry H; Tang, Haiping H; Tremblay, Laurence E LE; Reggiano, Gabriella G; Qiu, Xingyu X; Bohstedt, Tina T; Liko, Idlir I; Almeida, Fernando G FG; Garneau, Alexandre P AP; Wang, Dong D; McKinley, Gavin G; Moreau, Christophe P CP; Bountra, Kiran D KD; Abrusci, Patrizia P; Mukhopadhyay, Shubhashish M M SMM; Fernandez-Cid, Alejandra A; Slimani, Samira S; Lavoie, Julie L JL; Burgess-Brown, Nicola A NA; Tehan, Ben B; DiMaio, Frank F; Jazayeri, Ali A; Isenring, Paul P; Robinson, Carol V CV; Dürr, Katharina L KL
Publication Date: 2021-07-15

Variant appearance in text: TMD: S14A
PubMed Link: 34031912
Variant Present in the following documents:
  • EMBJ-40-e107294.pdf
View BVdb publication page



Structural mechanism of cooperative activation of the human calcium-sensing receptor by Ca2+ ions and L-tryptophan.

Cell Research
Ling, Shenglong S; Shi, Pan P; Liu, Sanling S; Meng, Xianyu X; Zhou, Yingxin Y; Sun, Wenjing W; Chang, Shenghai S; Zhang, Xing X; Zhang, Longhua L; Shi, Chaowei C; Sun, Demeng D; Liu, Lei L; Tian, Changlin C
Publication Date: 2021-04

Variant appearance in text: TMD: S14a
PubMed Link: 33603117
Variant Present in the following documents:
  • Main text
  • 41422_2021_Article_474.pdf
View BVdb publication page



Epitaxial Growth of Wafer-Scale Molybdenum Disulfide/Graphene Heterostructures by Metal-Organic Vapor-Phase Epitaxy and Their Application in Photodetectors.

Acs Applied Materials & Interfaces
Hoang, Anh Tuan AT; Katiyar, Ajit K AK; Shin, Heechang H; Mishra, Neeraj N; Forti, Stiven S; Coletti, Camilla C; Ahn, Jong-Hyun JH
Publication Date: 2020-09-30

Variant appearance in text: TMD: S14a
PubMed Link: 32877158
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transcriptome-wide sites of collided ribosomes reveal principles of translational pausing.

Genome Research
Arpat, Alaaddin Bulak AB; Liechti, Angélica A; De Matos, Mara M; Dreos, René R; Janich, Peggy P; Gatfield, David D
Publication Date: 2020-07

Variant appearance in text: TMD: S14A
PubMed Link: 32703885
Variant Present in the following documents:
  • Main text
  • 985.pdf
View BVdb publication page



3D Crumpled Ultrathin 1T MoS2 for Inkjet Printing of Mg-Ion Asymmetric Micro-supercapacitors.

Acs Nano
Shao, Yuanlong Y; Fu, Jui-Han JH; Cao, Zhen Z; Song, Kepeng K; Sun, Ruofan R; Wan, Yi Y; Shamim, Atif A; Cavallo, Luigi L; Han, Yu Y; Kaner, Richard B RB; Tung, Vincent C VC
Publication Date: 2020-06-23

Variant appearance in text: TMD: S14a
PubMed Link: 32478507
Variant Present in the following documents:
  • Main text
  • nn0c02585.pdf
View BVdb publication page



Porphyromonas gingivalis induces penetration of lipopolysaccharide and peptidoglycan through the gingival epithelium via degradation of junctional adhesion molecule 1.

Plos Pathogens
Takeuchi, Hiroki H; Sasaki, Naoko N; Yamaga, Shunsuke S; Kuboniwa, Masae M; Matsusaki, Michiya M; Amano, Atsuo A
Publication Date: 2019-11

Variant appearance in text: TMD: S14A
PubMed Link: 31697789
Variant Present in the following documents:
  • Main text
  • ppat.1008124.pdf
View BVdb publication page



Discovery of Genomic Characteristics and Selection Signatures in Korean Indigenous Goats Through Comparison of 10 Goat Breeds.

Frontiers In Genetics
Kim, Jae-Yoon JY; Jeong, Seongmun S; Kim, Kyoung Hyoun KH; Lim, Won-Jun WJ; Lee, Ho-Yeon HY; Kim, Namshin N
Publication Date: 2019

Variant appearance in text: TTN: S14A
PubMed Link: 31440273
Variant Present in the following documents:
  • Main text
  • fgene-10-00699.pdf
View BVdb publication page



Immunoglobulin G structure and rheumatoid factor epitopes.

Plos One
Maibom-Thomsen, Sheila Lefoli SL; Trier, Nicole Hartwig NH; Holm, Bettina Eide BE; Hansen, Kirsten Beth KB; Rasmussen, Morten Ib MI; Chailyan, Anna A; Marcatili, Paolo P; Højrup, Peter P; Houen, Gunnar G
Publication Date: 2019

Variant appearance in text: TTN: S14a
PubMed Link: 31199818
Variant Present in the following documents:
  • Main text
  • pone.0217624.pdf
View BVdb publication page



Dynamics of the excised base release in thymine DNA glycosylase during DNA repair process.

Nucleic Acids Research
Da, Lin-Tai LT; Shi, Yi Y; Ning, Guodong G; Yu, Jin J
Publication Date: 2018-01-25

Variant appearance in text: TMD: S14A
PubMed Link: 29253232
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multiregional proteomic survey of the postnatal human brain.

Nature Neuroscience
Carlyle, Becky C BC; Kitchen, Robert R RR; Kanyo, Jean E JE; Voss, Edward Z EZ; Pletikos, Mihovil M; Sousa, André M M AMM; Lam, TuKiet T TT; Gerstein, Mark B MB; Sestan, Nenad N; Nairn, Angus C AC
Publication Date: 2017-12

Variant appearance in text: TTN: S14A
PubMed Link: 29184206
Variant Present in the following documents:
  • nihms909823.pdf
View BVdb publication page



Deciphering Intrinsic Inter-subunit Couplings that Lead to Sequential Hydrolysis of F1-ATPase Ring.

Biophysical Journal
Dai, Liqiang L; Flechsig, Holger H; Yu, Jin J
Publication Date: 2017-10-03

Variant appearance in text: TMD: S14A
PubMed Link: 28978438
Variant Present in the following documents:
  • mmc8.pdf
  • mmc1.pdf
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: TTN: S14A
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page