TG c.287G>A ;(p.C96Y)

Variant ID: 8-133883605-G-A

NM_003235.4(TG):c.287G>A;(p.C96Y)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Poster Presentation.

Experimental Animals
Publication Date: 2023

Variant appearance in text: TG: C96Y
PubMed Link: 37316216
Variant Present in the following documents:
  • expanim-72-S104.pdf
View BVdb publication page



Translation Animal Models of Diabetic Kidney Disease: Biochemical and Histological Phenotypes, Advantages and Limitations.

Diabetes, Metabolic Syndrome And Obesity : Targets And Therapy
Luo, Wenting W; Tang, Shiyun S; Xiao, Xiang X; Luo, Simin S; Yang, Zixuan Z; Huang, Wei W; Tang, Songqi S
Publication Date: 2023

Variant appearance in text: TG: C96Y
PubMed Link: 37179788
Variant Present in the following documents:
  • Main text
  • dmso-16-1297.pdf
View BVdb publication page



HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 287G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: TG: 287G>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: TG: 287G>A
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: TG: 287G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TG: 287G>A
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Pathophysiology and Treatment of Diabetic Cardiomyopathy and Heart Failure in Patients with Diabetes Mellitus.

International Journal Of Molecular Sciences
Nakamura, Kazufumi K; Miyoshi, Toru T; Yoshida, Masashi M; Akagi, Satoshi S; Saito, Yukihiro Y; Ejiri, Kentaro K; Matsuo, Naoaki N; Ichikawa, Keishi K; Iwasaki, Keiichiro K; Naito, Takanori T; Namba, Yusuke Y; Yoshida, Masatoki M; Sugiyama, Hiroki H; Ito, Hiroshi H
Publication Date: 2022-03-25

Variant appearance in text: TG: C96Y
PubMed Link: 35408946
Variant Present in the following documents:
  • ijms-23-03587.pdf
View BVdb publication page



Type 1 Diabetes Impairs Cardiomyocyte Contractility in the Left and Right Ventricular Free Walls but Preserves It in the Interventricular Septum.

International Journal Of Molecular Sciences
Khokhlova, Anastasia A; Myachina, Tatiana T; Volzhaninov, Denis D; Butova, Xenia X; Kochurova, Anastasia A; Berg, Valentina V; Gette, Irina I; Moroz, Gleb G; Klinova, Svetlana S; Minigalieva, Ilzira I; Solovyova, Olga O; Danilova, Irina I; Sokolova, Ksenia K; Kopylova, Galina G; Shchepkin, Daniil D
Publication Date: 2022-02-02

Variant appearance in text: TG: C96Y
PubMed Link: 35163643
Variant Present in the following documents:
  • ijms-23-01719.pdf
View BVdb publication page



A small molecule UPR modulator for diabetes identified by high throughput screening.

Acta Pharmaceutica Sinica. B
Marrocco, Valeria V; Tran, Tuan T; Zhu, Siying S; Choi, Seung Hyuk SH; Gamo, Ana M AM; Li, Sijia S; Fu, Qiangwei Q; Cunado, Marta Diez MD; Roland, Jason J; Hull, Mitch M; Nguyen-Tran, Van V; Joseph, Sean S; Chatterjee, Arnab K AK; Rogers, Nikki N; Tremblay, Matthew S MS; Shen, Weijun W
Publication Date: 2021-12

Variant appearance in text: TG: C96Y
PubMed Link: 35024320
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Ca2+ mishandling and mitochondrial dysfunction: a converging road to prediabetic and diabetic cardiomyopathy.

Pflugers Archiv : European Journal Of Physiology
Jaquenod De Giusti, Carolina C; Palomeque, Julieta J; Mattiazzi, Alicia A
Publication Date: 2022-01

Variant appearance in text: TG: C96Y
PubMed Link: 34978597
Variant Present in the following documents:
  • 424_2021_Article_2650.pdf
View BVdb publication page



ATF4-mediated transcriptional regulation protects against β-cell loss during endoplasmic reticulum stress in a mouse model.

Molecular Metabolism
Kitakaze, Keisuke K; Oyadomari, Miho M; Zhang, Jun J; Hamada, Yoshimasa Y; Takenouchi, Yasuhiro Y; Tsuboi, Kazuhito K; Inagaki, Mai M; Tachikawa, Masanori M; Fujitani, Yoshio Y; Okamoto, Yasuo Y; Oyadomari, Seiichi S
Publication Date: 2021-09-20

Variant appearance in text: TG: C96Y
PubMed Link: 34547510
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATF4-mediated transcriptional regulation protects against β-cell loss during endoplasmic reticulum stress in a mouse model.

Molecular Metabolism
Kitakaze, Keisuke K; Oyadomari, Miho M; Zhang, Jun J; Hamada, Yoshimasa Y; Takenouchi, Yasuhiro Y; Tsuboi, Kazuhito K; Inagaki, Mai M; Tachikawa, Masanori M; Fujitani, Yoshio Y; Okamoto, Yasuo Y; Oyadomari, Seiichi S
Publication Date: 2021-12

Variant appearance in text: TG: C96Y
PubMed Link: 34547510
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomics of an endemic cystic fibrosis Burkholderia multivorans strain reveals low within-patient evolution but high between-patient diversity.

Plos Pathogens
Lood, Cédric C; Peeters, Charlotte C; Lamy-Besnier, Quentin Q; Wagemans, Jeroen J; De Vos, Daniel D; Proesmans, Marijke M; Pirnay, Jean-Paul JP; Echahidi, Fedoua F; Piérard, Denis D; Thimmesch, Matthieu M; Boeras, Anca A; Lagrou, Katrien K; De Canck, Evelien E; De Wachter, Elke E; van Noort, Vera V; Lavigne, Rob R; Vandamme, Peter P
Publication Date: 2021-03

Variant appearance in text: TG: 287G>A
PubMed Link: 33720991
Variant Present in the following documents:
  • ppat.1009418.s005.xlsx, sheet 9
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TG: 287G>A; C96Y
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: TG: 287G>A
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



The making of insulin in health and disease.

Diabetologia
Vasiljević, Jovana J; Torkko, Juha M JM; Knoch, Klaus-Peter KP; Solimena, Michele M
Publication Date: 2020-10

Variant appearance in text: TGN: C96Y
PubMed Link: 32894308
Variant Present in the following documents:
  • Main text
  • 125_2020_Article_5192.pdf
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: TG: Cys96Tyr
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 12
  • Supplementary_Data2.xlsx, sheet 7
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: TG: 287G>A
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



MicroRNA-24 promotes pancreatic beta cells toward dedifferentiation to avoid endoplasmic reticulum stress-induced apoptosis.

Journal Of Molecular Cell Biology
Zhu, Yunxia Y; Sun, Yi Y; Zhou, Yuncai Y; Zhang, Yan Y; Zhang, Tao T; Li, Yating Y; You, Weiyan W; Chang, Xiaoai X; Yuan, Li L; Han, Xiao X
Publication Date: 2019-09-19

Variant appearance in text: TG: C96Y
PubMed Link: 30753517
Variant Present in the following documents:
  • Main text
  • mjz004.pdf
View BVdb publication page



Rapid and reliable identification of insulin 2 gene mutation in Akita diabetic mice by a tetra-primer-ARMS-PCR method.

Heliyon
Undi, Rambabu R; Lim, Hui-Ying HY; Wang, Weidong W
Publication Date: 2019-01

Variant appearance in text: TG: C96Y
PubMed Link: 30656224
Variant Present in the following documents:
  • Main text
View BVdb publication page



Of mice and men: models and mechanisms of diabetic cardiomyopathy.

Basic Research In Cardiology
Riehle, Christian C; Bauersachs, Johann J
Publication Date: 2018-11-15

Variant appearance in text: TG: C96Y
PubMed Link: 30443826
Variant Present in the following documents:
  • 395_2018_Article_711.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: TG: 287G>A; Cys96Tyr
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Endoplasmic reticulum stress signalling - from basic mechanisms to clinical applications.

The Febs Journal
Almanza, Aitor A; Carlesso, Antonio A; Chintha, Chetan C; Creedican, Stuart S; Doultsinos, Dimitrios D; Leuzzi, Brian B; Luís, Andreia A; McCarthy, Nicole N; Montibeller, Luigi L; More, Sanket S; Papaioannou, Alexandra A; Püschel, Franziska F; Sassano, Maria Livia ML; Skoko, Josip J; Agostinis, Patrizia P; de Belleroche, Jackie J; Eriksson, Leif A LA; Fulda, Simone S; Gorman, Adrienne M AM; Healy, Sandra S; Kozlov, Andrey A; Muñoz-Pinedo, Cristina C; Rehm, Markus M; Chevet, Eric E; Samali, Afshin A
Publication Date: 2019-01

Variant appearance in text: TG: C96Y
PubMed Link: 30027602
Variant Present in the following documents:
  • FEBS-286-241.pdf
View BVdb publication page



Crosstalk Between the Unfolded Protein Response, MicroRNAs, and Insulin Signaling Pathways: In Search of Biomarkers for the Diagnosis and Treatment of Type 2 Diabetes.

Frontiers In Endocrinology
Berry, Chinar C; Lal, Megha M; Binukumar, B K BK
Publication Date: 2018

Variant appearance in text: TG: C96Y
PubMed Link: 29770126
Variant Present in the following documents:
  • fendo-09-00210.pdf
View BVdb publication page



Physiological/pathological ramifications of transcription factors in the unfolded protein response.

Genes & Development
Han, Jaeseok J; Kaufman, Randal J RJ
Publication Date: 2017-07-15

Variant appearance in text: TG: Cys96Tyr
PubMed Link: 28860159
Variant Present in the following documents:
  • Main text
  • 1417.pdf
View BVdb publication page



Mesencephalic astrocyte-derived neurotrophic factor (MANF), a new player in endoplasmic reticulum diseases: structure, biology, and therapeutic roles.

Translational Research : The Journal Of Laboratory And Clinical Medicine
Kim, Yeawon Y; Park, Sun-Ji SJ; Chen, Ying Maggie YM
Publication Date: 2017-10

Variant appearance in text: TG: C96Y
PubMed Link: 28719799
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: TG: Cys96Tyr
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



PLIN2 is a Key Regulator of the Unfolded Protein Response and Endoplasmic Reticulum Stress Resolution in Pancreatic β Cells.

Scientific Reports
Chen, Elaine E; Tsai, Tsung Huang TH; Li, Lan L; Saha, Pradip P; Chan, Lawrence L; Chang, Benny Hung-Junn BH
Publication Date: 2017-01-19

Variant appearance in text: TG: C96Y
PubMed Link: 28102311
Variant Present in the following documents:
  • Main text
  • srep40855.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: TG: 287G>A
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Animal models of diabetic macrovascular complications: key players in the development of new therapeutic approaches.

Journal Of Diabetes Research
Heinonen, Suvi E SE; Genové, Guillem G; Bengtsson, Eva E; Hübschle, Thomas T; Åkesson, Lina L; Hiss, Katrin K; Benardeau, Agnes A; Ylä-Herttuala, Seppo S; Jönsson-Rylander, Ann-Cathrine AC; Gomez, Maria F MF
Publication Date: 2015

Variant appearance in text: TG: Cys96Tyr
PubMed Link: 25785279
Variant Present in the following documents:
  • Main text
  • JDR2015-404085.pdf
View BVdb publication page



Protein disulfide isomerase A6 controls the decay of IRE1α signaling via disulfide-dependent association.

Molecular Cell
Eletto, Davide D; Eletto, Daniela D; Dersh, Devin D; Gidalevitz, Tali T; Argon, Yair Y
Publication Date: 2014-02-20

Variant appearance in text: TG: C96Y
PubMed Link: 24508390
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myocardial adipose triglyceride lipase overexpression protects diabetic mice from the development of lipotoxic cardiomyopathy.

Diabetes
Pulinilkunnil, Thomas T; Kienesberger, Petra C PC; Nagendran, Jeevan J; Waller, Terri J TJ; Young, Martin E ME; Kershaw, Erin E EE; Korbutt, Gregory G; Haemmerle, Guenter G; Zechner, Rudolf R; Dyck, Jason R B JR
Publication Date: 2013-05

Variant appearance in text: TG: C96Y
PubMed Link: 23349479
Variant Present in the following documents:
  • 1464.pdf
View BVdb publication page



HDLs protect pancreatic β-cells against ER stress by restoring protein folding and trafficking.

Diabetes
Pétremand, Jannick J; Puyal, Julien J; Chatton, Jean-Yves JY; Duprez, Jessica J; Allagnat, Florent F; Frias, Miguel M; James, Richard W RW; Waeber, Gérard G; Jonas, Jean-Christophe JC; Widmann, Christian C
Publication Date: 2012-05

Variant appearance in text: TG: C96Y
PubMed Link: 22399686
Variant Present in the following documents:
  • Main text
View BVdb publication page



The kallikrein-kinin system in diabetic nephropathy.

Kidney International
Tomita, Hirofumi H; Sanford, Ryan B RB; Smithies, Oliver O; Kakoki, Masao M
Publication Date: 2012-04

Variant appearance in text: TG: C96Y
PubMed Link: 22318421
Variant Present in the following documents:
  • nihms-347045.pdf
View BVdb publication page



Therapeutic impact of leptin on diabetes, diabetic complications, and longevity in insulin-deficient diabetic mice.

Diabetes
Naito, Masaki M; Fujikura, Junji J; Ebihara, Ken K; Miyanaga, Fumiko F; Yokoi, Hideki H; Kusakabe, Toru T; Yamamoto, Yuji Y; Son, Cheol C; Mukoyama, Masashi M; Hosoda, Kiminori K; Nakao, Kazuwa K
Publication Date: 2011-09

Variant appearance in text: TG: C96Y
PubMed Link: 21810600
Variant Present in the following documents:
  • Main text
View BVdb publication page



The endoplasmic reticulum stress response and diabetic kidney disease.

American Journal Of Physiology. Renal Physiology
Cunard, Robyn R; Sharma, Kumar K
Publication Date: 2011-05

Variant appearance in text: TG: C96y
PubMed Link: 21345978
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pparg-P465L mutation worsens hyperglycemia in Ins2-Akita female mice via adipose-specific insulin resistance and storage dysfunction.

Diabetes
Pendse, Avani A AA; Johnson, Lance A LA; Tsai, Yau-Sheng YS; Maeda, Nobuyo N
Publication Date: 2010-11

Variant appearance in text: TG: C96Y
PubMed Link: 20724579
Variant Present in the following documents:
  • Main text
  • zdb2890.pdf
View BVdb publication page



Involvement of 4E-BP1 in the protection induced by HDLs on pancreatic beta-cells.

Molecular Endocrinology (Baltimore, Md.)
Pétremand, Jannick J; Bulat, Natasa N; Butty, Anne-Christine AC; Poussin, Carine C; Rütti, Sabine S; Au, Karin K; Ghosh, Sujoy S; Mooser, Vincent V; Thorens, Bernard B; Yang, Jiang-Yan JY; Widmann, Christian C; Waeber, Gérard G
Publication Date: 2009-10

Variant appearance in text: TG: C96Y
PubMed Link: 19574449
Variant Present in the following documents:
  • Main text
View BVdb publication page