CERS4 c.1058C>A ;(p.A353E)

Variant ID: 19-8326866-C-A

NM_024552.2(CERS4):c.1058C>A;(p.A353E)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
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: rs17160348
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Genome-wide association meta-analysis of circulating odd-numbered chain saturated fatty acids: Results from the CHARGE Consortium.

Plos One
de Oliveira Otto, Marcia C MC; Lemaitre, Rozenn N RN; Sun, Qi Q; King, Irena B IB; Wu, Jason H Y JHY; Manichaikul, Ani A; Rich, Stephen S SS; Tsai, Michael Y MY; Chen, Y D YD; Fornage, Myriam M; Weihua, Guan G; Aslibekyan, Stella S; Irvin, Marguerite R MR; Kabagambe, Edmond K EK; Arnett, Donna K DK; Jensen, Majken K MK; McKnight, Barbara B; Psaty, Bruce M BM; Steffen, Lyn M LM; Smith, Caren E CE; Risérus, Ulf U; Lind, Lars L; Hu, Frank B FB; Rimm, Eric B EB; Siscovick, David S DS; Mozaffarian, Dariush D
Publication Date: 2018

Variant appearance in text: rs17160348
PubMed Link: 29738550
Variant Present in the following documents:
  • Main text
  • pone.0196951.pdf
View BVdb publication page



Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia.

Plos One
Schaefer, Beverly A BA; Flanagan, Jonathan M JM; Alvarez, Ofelia A OA; Nelson, Stephen C SC; Aygun, Banu B; Nottage, Kerri A KA; George, Alex A; Roberts, Carla W CW; Piccone, Connie M CM; Howard, Thad A TA; Davis, Barry R BR; Ware, Russell E RE
Publication Date: 2016

Variant appearance in text: rs17160348
PubMed Link: 27711207
Variant Present in the following documents:
  • Main text
  • pone.0164364.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CERS4: 1058C>A; A353E
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs17160348
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s2.xls, sheet 1
View BVdb publication page



Linkage and association of phospholipid transfer protein activity to LASS4.

Journal Of Lipid Research
Rosenthal, Elisabeth A EA; Ronald, James J; Rothstein, Joseph J; Rajagopalan, Ramakrishnan R; Ranchalis, Jane J; Wolfbauer, G G; Albers, John J JJ; Brunzell, John D JD; Motulsky, Arno G AG; Rieder, Mark J MJ; Nickerson, Deborah A DA; Wijsman, Ellen M EM; Jarvik, Gail P GP
Publication Date: 2011-10

Variant appearance in text: rs17160348
PubMed Link: 21757428
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel germline variants identified in the inner mitochondrial membrane transporter TIMM44 and their role in predisposition to oncocytic thyroid carcinomas.

British Journal Of Cancer
Bonora, E E; Evangelisti, C C; Bonichon, F F; Tallini, G G; Romeo, G G
Publication Date: 2006-12-04

Variant appearance in text: rs17160348
PubMed Link: 17088905
Variant Present in the following documents:
  • Main text
  • 95-6603455a.pdf
View BVdb publication page