TMC4 c.50G>T ;(p.E17V)

Variant ID: 19-54676763-C-A

NM_144686.2(TMC4):c.50G>T;(p.E17V)

This variant was identified in 283 publications

View GRCh38 version.




Publications:


Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.

Nature Genetics
Schlosser, Pascal P; Scherer, Nora N; Grundner-Culemann, Franziska F; Monteiro-Martins, Sara S; Haug, Stefan S; Steinbrenner, Inga I; Uluvar, Burulça B; Wuttke, Matthias M; Cheng, Yurong Y; Ekici, Arif B AB; Gyimesi, Gergely G; Karoly, Edward D ED; Kotsis, Fruzsina F; Mielke, Johanna J; Gomez, Maria F MF; Yu, Bing B; Grams, Morgan E ME; Coresh, Josef J; Boerwinkle, Eric E; Köttgen, Michael M; Kronenberg, Florian F; Meiselbach, Heike H; Mohney, Robert P RP; Akilesh, Shreeram S; , ; Schmidts, Miriam M; Hediger, Matthias A MA; Schultheiss, Ulla T UT; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Sekula, Peggy P; Li, Yong Y; Köttgen, Anna A
Publication Date: 2023-06-05

Variant appearance in text: rs641738
PubMed Link: 37277652
Variant Present in the following documents:
  • 41588_2023_1409_MOESM4_ESM.pdf
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Precision Medicine in Fatty Liver Disease/Non-Alcoholic Fatty Liver Disease.

Journal Of Personalized Medicine
Valenzuela-Vallejo, Laura L; Sanoudou, Despina D; Mantzoros, Christos S CS
Publication Date: 2023-05-14

Variant appearance in text: rs641738
PubMed Link: 37241000
Variant Present in the following documents:
  • Main text
  • jpm-13-00830.pdf
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Genetic variants in HFE are associated with non-alcoholic fatty liver disease in lean individuals.

Jhep Reports : Innovation In Hepatology
Sun, Zewen Z; Pan, Xingchen X; Tian, Aowen A; Surakka, Ida I; Wang, Tao T; Jiao, Xu X; He, Shanshan S; Song, Jinfang J; Tian, Xin X; Tong, Dan D; Wen, Jianping J; Zhang, Yonggang Y; Liu, Wanqing W; Chen, Peng P
Publication Date: 2023-07

Variant appearance in text: rs641738
PubMed Link: 37235137
Variant Present in the following documents:
  • main.pdf
  • mmc1.pdf
  • mmc4.pdf
View BVdb publication page



Lipid droplet biogenesis and functions in health and disease.

Nature Reviews. Endocrinology
Zadoorian, Armella A; Du, Ximing X; Yang, Hongyuan H
Publication Date: 2023-05-23

Variant appearance in text: rs641738
PubMed Link: 37221402
Variant Present in the following documents:
  • Main text
  • 41574_2023_Article_845.pdf
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Adipocyte phosphatidylinositol biosynthesis via the Lands cycle protects against insulin resistance.

Journal Of Lipid Research
Bornfeldt, Karin E KE
Publication Date: 2023-04-29

Variant appearance in text: rs641738
PubMed Link: 37127068
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Identification of biomarkers, pathways, and potential therapeutic targets for heart failure using next-generation sequencing data and bioinformatics analysis.

Therapeutic Advances In Cardiovascular Disease
Ganekal, Prashanth P; Vastrad, Basavaraj B; Vastrad, Chanabasayya C; Kotrashetti, Shivakumar S
Publication Date: 2023

Variant appearance in text: rs641738
PubMed Link: 37092838
Variant Present in the following documents:
  • 10.1177_17539447231168471.pdf
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Glutathione: Pharmacological aspects and implications for clinical use in non-alcoholic fatty liver disease.

Frontiers In Medicine
Santacroce, Giovanni G; Gentile, Antonella A; Soriano, Simone S; Novelli, Andrea A; Lenti, Marco Vincenzo MV; Di Sabatino, Antonio A
Publication Date: 2023

Variant appearance in text: rs641738
PubMed Link: 37035339
Variant Present in the following documents:
  • Main text
  • fmed-10-1124275.pdf
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Should we undertake surveillance for HCC in patients with MAFLD?

Therapeutic Advances In Endocrinology And Metabolism
Norero, Blanca B; Dufour, Jean-François JF
Publication Date: 2023

Variant appearance in text: rs641738
PubMed Link: 37006779
Variant Present in the following documents:
  • Main text
  • 10.1177_20420188231160389.pdf
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Metabolic-Dysfunction-Associated Fatty Liver Disease and Gut Microbiota: From Fatty Liver to Dysmetabolic Syndrome.

Medicina (Kaunas, Lithuania)
Abenavoli, Ludovico L; Scarlata, Giuseppe Guido Maria GGM; Scarpellini, Emidio E; Boccuto, Luigi L; Spagnuolo, Rocco R; Tilocca, Bruno B; Roncada, Paola P; Luzza, Francesco F
Publication Date: 2023-03-17

Variant appearance in text: rs641738
PubMed Link: 36984595
Variant Present in the following documents:
  • Main text
  • medicina-59-00594.pdf
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Correlation between nonalcoholic fatty liver disease and left ventricular diastolic dysfunction in non-obese adults: a cross-sectional study.

Bmc Gastroenterology
Cong, Fangyuan F; Zhu, Luying L; Deng, Lihua L; Xue, Qian Q; Wang, Jingtong J
Publication Date: 2023-03-27

Variant appearance in text: rs641738
PubMed Link: 36973654
Variant Present in the following documents:
  • 12876_2023_Article_2708.pdf
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Fatty liver disease in children (MAFLD/PeFLD Type 2): unique classification considerations and challenges.

Therapeutic Advances In Endocrinology And Metabolism
Hegarty, Robert R; Kyrana, Eirini E; Fitzpatrick, Emer E; Dhawan, Anil A
Publication Date: 2023

Variant appearance in text: rs641738
PubMed Link: 36968656
Variant Present in the following documents:
  • Main text
  • 10.1177_20420188231160388.pdf
View BVdb publication page



Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study.

Jhep Reports : Innovation In Hepatology
Zheng, Melanie M; Huang, Daniel Q DQ; Konkwo, Chigoziri C; Agrawal, Saaket S; Khera, Amit V AV; Loomba, Rohit R; Vilarinho, Sílvia S; Ajmera, Veeral V
Publication Date: 2023-04

Variant appearance in text: rs641738
PubMed Link: 36937991
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc1.pdf
  • mmc4.pdf
View BVdb publication page



TM6SF2-rs58542926 Genetic Variant Modifies the Protective Effect of a "Prudent" Dietary Pattern on Serum Triglyceride Levels.

Nutrients
Kalafati, Ioanna Panagiota IP; Dimitriou, Maria M; Revenas, Konstantinos K; Kokkinos, Alexander A; Deloukas, Panos P; Dedoussis, George V GV
Publication Date: 2023-02-23

Variant appearance in text: rs641738
PubMed Link: 36904112
Variant Present in the following documents:
  • Main text
  • nutrients-15-01112.pdf
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High producer variant of lipoprotein lipase may protect from hepatocellular carcinoma in alcohol-associated cirrhosis.

Jhep Reports : Innovation In Hepatology
Schmalz, Franziska F; Fischer, Janett J; Innes, Hamish H; Buch, Stephan S; Möller, Christine C; Matz-Soja, Madlen M; von Schönfels, Witigo W; Krämer, Benjamin B; Langhans, Bettina B; Klüners, Alexandra A; Soyka, Michael M; Stickel, Felix F; Nattermann, Jacob J; Strassburg, Christian P CP; Berg, Thomas T; Lutz, Philipp P; Nischalke, Hans Dieter HD
Publication Date: 2023-04

Variant appearance in text: rs641738
PubMed Link: 36879887
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc4.pdf
View BVdb publication page



Hepatic Stellate Cells - Dictating outcome in non-alcoholic fatty liver disease.

Cellular And Molecular Gastroenterology And Hepatology
Wiering, Leke L; Subramanian, Pallavi P; Hammerich, Linda L
Publication Date: 2023-02-22

Variant appearance in text: rs641738
PubMed Link: 36828280
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



MBOAT7-Driven Lysophosphatidylinositol Acylation in Adipocytes Contributes to Systemic Glucose Homeostasis.

Journal Of Lipid Research
Massey, William J WJ; Varadharajan, Venkateshwari V; Banerjee, Rakhee R; Brown, Amanda L AL; Horak, Anthony J AJ; Hohe, Rachel C RC; Jung, Bryan M BM; Qiu, Yunguang Y; Chan, E Ricky ER; Pan, Calvin C; Zhang, Renliang R; Allende, Daniela S DS; Willard, Belinda B; Cheng, Feixiong F; Lusis, Aldons J AJ; Brown, J Mark JM
Publication Date: 2023-02-18

Variant appearance in text: rs641738
PubMed Link: 36806709
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



COVID-19-related liver injury: Focus on genetic and drug-induced perspectives.

World Journal Of Virology
Parchwani, Deepak D; Sonagra, Amit D AD; Dholariya, Sagar S; Motiani, Anita A; Singh, Ragini R
Publication Date: 2023-01-25

Variant appearance in text: rs641738
PubMed Link: 36743658
Variant Present in the following documents:
  • Main text
  • WJV-12-53.pdf
View BVdb publication page



Clinical features and metabolic complications for non-alcoholic fatty liver disease (NAFLD) in youth with obesity.

Frontiers In Endocrinology
Barbieri, Emiliano E; Santoro, Nicola N; Umano, Giuseppina Rosaria GR
Publication Date: 2023

Variant appearance in text: rs641738
PubMed Link: 36733529
Variant Present in the following documents:
  • fendo-14-1062341.pdf
View BVdb publication page



Genetic variation in TBC1 domain family member 1 gene associates with the risk of lean NAFLD via high-density lipoprotein.

Frontiers In Genetics
Wu, Na N; Zhai, Xiangyu X; Yuan, Fan F; Li, Jie J; Li, Dong D; Wang, Jianying J; Zhang, Lei L; Shi, Yi Y; Ji, Guang G; He, Guang G; Liu, Baocheng B
Publication Date: 2022

Variant appearance in text: rs641738
PubMed Link: 36712867
Variant Present in the following documents:
  • Main text
  • fgene-13-1026725.pdf
View BVdb publication page



Hepatocellular carcinoma in non-alcoholic steatohepatitis without cirrhosis.

World Journal Of Gastroenterology
Tovo, Cristiane Valle CV; de Mattos, Angelo Zambam AZ; Coral, Gabriela Perdomo GP; Sartori, Giovana D P GDP; Nogueira, Livia Villela LV; Both, Gustavo Tovo GT; Villela-Nogueira, Cristiane A CA; de Mattos, Angelo A AA
Publication Date: 2023-01-14

Variant appearance in text: rs641738
PubMed Link: 36687125
Variant Present in the following documents:
  • WJG-29-343.pdf
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Genetic Polymorphisms and Diversity in Nonalcoholic Fatty Liver Disease (NAFLD): A Mini Review.

Biomedicines
Sulaiman, Siti Aishah SA; Dorairaj, Vicneswarry V; Adrus, Muhammad Nafiz Haidi MNH
Publication Date: 2022-12-30

Variant appearance in text: rs641738
PubMed Link: 36672614
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00106.pdf
View BVdb publication page



Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: rs641738
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Pathological Connections between Nonalcoholic Fatty Liver Disease and Chronic Kidney Disease.

Kidney Diseases (Basel, Switzerland)
Liu, Huixia H; Zhang, Chun C; Xiong, Jing J
Publication Date: 2022-12

Variant appearance in text: rs641738
PubMed Link: 36590682
Variant Present in the following documents:
  • Main text
  • kdd-0008-0458.pdf
View BVdb publication page



MTARC1 and HSD17B13 Variants Have Protective Effects on Non-Alcoholic Fatty Liver Disease in Patients Undergoing Bariatric Surgery.

International Journal Of Molecular Sciences
Kalinowski, Piotr P; Smyk, Wiktor W; Nowosad, Małgorzata M; Paluszkiewicz, Rafał R; Michałowski, Łukasz Ł; Ziarkiewicz-Wróblewska, Bogna B; Weber, Susanne N SN; Milkiewicz, Piotr P; Lammert, Frank F; Zieniewicz, Krzysztof K; Krawczyk, Marcin M
Publication Date: 2022-12-13

Variant appearance in text: rs641738
PubMed Link: 36555467
Variant Present in the following documents:
  • Main text
  • ijms-23-15825.pdf
View BVdb publication page



Liver fibrosis in children: a comprehensive review of mechanisms, diagnosis, and therapy.

Clinical And Experimental Pediatrics
Ozdogan, Elif E; Arikan, Cigdem C
Publication Date: 2022-12-19

Variant appearance in text: rs641738
PubMed Link: 36550776
Variant Present in the following documents:
  • Main text
  • cep-2022-00367.pdf
View BVdb publication page



Current insights in molecular characterization of non-alcoholic fatty liver disease and treatment.

Frontiers In Endocrinology
Che, Wensheng W; Zhao, Ming M; Li, Xiaoqing X; Li, Chunlong C; Cho, William C WC; Yu, Shan S
Publication Date: 2022

Variant appearance in text: rs641738
PubMed Link: 36523601
Variant Present in the following documents:
  • Main text
  • fendo-13-1002916.pdf
View BVdb publication page



A metabolic associated fatty liver disease risk variant in MBOAT7 regulates toll like receptor induced outcomes.

Nature Communications
Alharthi, Jawaher J; Bayoumi, Ali A; Thabet, Khaled K; Pan, Ziyan Z; Gloss, Brian S BS; Latchoumanin, Olivier O; Lundberg, Mischa M; Twine, Natalie A NA; McLeod, Duncan D; Alenizi, Shafi S; Adams, Leon A LA; Weltman, Martin M; Berg, Thomas T; Liddle, Christopher C; George, Jacob J; Eslam, Mohammed M
Publication Date: 2022-12-06

Variant appearance in text: rs641738
PubMed Link: 36473860
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_35158.pdf
View BVdb publication page



Genetics in non-alcoholic fatty liver disease: The role of risk alleles through the lens of immune response.

Clinical And Molecular Hepatology
Sookoian, Silvia S; Pirola, Carlos J CJ
Publication Date: 2022-12-05

Variant appearance in text: rs641738
PubMed Link: 36472053
Variant Present in the following documents:
  • Main text
  • cmh-2022-0318.pdf
View BVdb publication page



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: rs641738
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Moderate Treadmill Exercise Alleviates NAFLD by Regulating the Biogenesis and Autophagy of Lipid Droplet.

Nutrients
Yang, Yangjun Y; Li, Xi X; Liu, Zonghan Z; Ruan, Xinyu X; Wang, Huihui H; Zhang, Qiang Q; Cao, Lu L; Song, Luchen L; Chen, Yinghong Y; Sun, Yi Y
Publication Date: 2022-11-20

Variant appearance in text: rs641738
PubMed Link: 36432597
Variant Present in the following documents:
  • nutrients-14-04910.pdf
View BVdb publication page



Biofabrication of synthetic human liver tissue with advanced programmable functions.

Iscience
Florentino, Rodrigo M RM; Morita, Kazutoyo K; Haep, Nils N; Motomura, Takashi T; Diaz-Aragon, Ricardo R; Faccioli, Lanuza A P LAP; Collin de l'Hortet, Alexandra A; Cetin, Zeliha Z; Frau, Carla C; Vernetti, Lawrence L; Amler, Anna-Klara AK; Thomas, Alexander A; Lam, Tobias T; Kloke, Lutz L; Takeishi, Kazuki K; Taylor, D Lansing DL; Fox, Ira J IJ; Soto-Gutierrez, Alejandro A
Publication Date: 2022-12-22

Variant appearance in text: rs641738
PubMed Link: 36404924
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Nonalcoholic Fatty Liver Disease and Chronic Kidney Disease: Epidemiology, Pathogenesis, and Clinical and Research Implications.

International Journal Of Molecular Sciences
Lonardo, Amedeo A; Mantovani, Alessandro A; Targher, Giovanni G; Baffy, Gyorgy G
Publication Date: 2022-11-01

Variant appearance in text: rs641738
PubMed Link: 36362108
Variant Present in the following documents:
  • ijms-23-13320.pdf
View BVdb publication page



TM6SF2 rs58542926 is related to hepatic steatosis, fibrosis and serum lipids both in adults and children: A meta-analysis.

Frontiers In Endocrinology
Li, Xue-Ying XY; Liu, Zheng Z; Li, Li L; Wang, Hai-Jun HJ; Wang, Hui H
Publication Date: 2022

Variant appearance in text: rs641738
PubMed Link: 36353245
Variant Present in the following documents:
  • fendo-13-1026901.pdf
View BVdb publication page



Interplay between metabolic dysfunction-associated fatty liver disease and chronic kidney disease: Epidemiology, pathophysiologic mechanisms, and treatment considerations.

World Journal Of Gastroenterology
Theofilis, Panagiotis P; Vordoni, Aikaterini A; Kalaitzidis, Rigas G RG
Publication Date: 2022-10-21

Variant appearance in text: rs641738
PubMed Link: 36338895
Variant Present in the following documents:
  • WJG-28-5691.pdf
View BVdb publication page



Multiomics study of nonalcoholic fatty liver disease.

Nature Genetics
Sveinbjornsson, Gardar G; Ulfarsson, Magnus O MO; Thorolfsdottir, Rosa B RB; Jonsson, Benedikt A BA; Einarsson, Eythor E; Gunnlaugsson, Gylfi G; Rognvaldsson, Solvi S; Arnar, David O DO; Baldvinsson, Magnus M; Bjarnason, Ragnar G RG; , ; Eiriksdottir, Thjodbjorg T; Erikstrup, Christian C; Ferkingstad, Egil E; Halldorsson, Gisli H GH; Helgason, Hannes H; Helgadottir, Anna A; Hindhede, Lotte L; Hjorleifsson, Grimur G; Jones, David D; Knowlton, Kirk U KU; Lund, Sigrun H SH; Melsted, Pall P; Norland, Kristjan K; Olafsson, Isleifur I; Olafsson, Sigurdur S; Oskarsson, Gudjon R GR; Ostrowski, Sisse Rye SR; Pedersen, Ole Birger OB; Snaebjarnarson, Auðunn S AS; Sigurdsson, Emil E; Steinthorsdottir, Valgerdur V; Schwinn, Michael M; Thorgeirsson, Gudmundur G; Thorleifsson, Gudmar G; Jonsdottir, Ingileif I; Bundgaard, Henning H; Nadauld, Lincoln L; Bjornsson, Einar S ES; Rulifson, Ingrid C IC; Rafnar, Thorunn T; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Gudbjartsson, Daniel F DF; Holm, Hilma H; Stefansson, Kari K
Publication Date: 2022-11

Variant appearance in text: rs641738
PubMed Link: 36280732
Variant Present in the following documents:
  • Main text
  • 41588_2022_1199_MOESM4_ESM.xlsx, sheet 1
  • 41588_2022_Article_1199.pdf
View BVdb publication page



Profiling of cell-free DNA methylation and histone signatures in pediatric NAFLD: A pilot study.

Hepatology Communications
Buzova, Diana D; Braghini, Maria Rita MR; Bianco, Salvatore Daniele SD; Lo Re, Oriana O; Raffaele, Marco M; Frohlich, Jan J; Kisheva, Antoniya A; Crudele, Annalisa A; Mosca, Antonella A; Sartorelli, Maria Rita MR; Balsano, Clara C; Cerveny, Jan J; Mazza, Tommaso T; Alisi, Anna A; Vinciguerra, Manlio M
Publication Date: 2022-12

Variant appearance in text: rs641738
PubMed Link: 36264206
Variant Present in the following documents:
  • HEP4-6-3311.pdf
View BVdb publication page