MSR1 c.877C>T ;(p.R293*)

Variant ID: 8-16012594-G-A

NM_138715.2(MSR1):c.877C>T;(p.R293*)

This variant was identified in 51 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MSR1: 877C>T; Arg293Ter; rs41341748
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: MSR1: 877C>T; Arg293Ter; rs41341748
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



The role of macrophage scavenger receptor 1 (MSR1) in inflammatory disorders and cancer.

Frontiers In Immunology
Gudgeon, Jack J; Marín-Rubio, José Luis JL; Trost, Matthias M
Publication Date: 2022

Variant appearance in text: MSR1: 877C>T
PubMed Link: 36325338
Variant Present in the following documents:
  • Main text
  • fimmu-13-1012002.pdf
View BVdb publication page



Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications
Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA
Publication Date: 2022-08-23

Variant appearance in text: MSR1: 877C>T; Arg293*; rs41341748
PubMed Link: 35999217
Variant Present in the following documents:
  • 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-06

Variant appearance in text: rs41341748
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genetic regulation of post-translational modification of two distinct proteins.

Nature Communications
Landini, Arianna A; Trbojević-Akmačić, Irena I; Navarro, Pau P; Tsepilov, Yakov A YA; Sharapov, Sodbo Z SZ; Vučković, Frano F; Polašek, Ozren O; Hayward, Caroline C; Petrović, Tea T; Vilaj, Marija M; Aulchenko, Yurii S YS; Lauc, Gordan G; Wilson, James F JF; Klarić, Lucija L
Publication Date: 2022-03-24

Variant appearance in text: rs41341748
PubMed Link: 35332118
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_29189.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Mapping the serum proteome to neurological diseases using whole genome sequencing.

Nature Communications
Png, Grace G; Barysenka, Andrei A; Repetto, Linda L; Navarro, Pau P; Shen, Xia X; Pietzner, Maik M; Wheeler, Eleanor E; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Dedoussis, George G; Mälarstig, Anders A; Wilson, James F JF; Gilly, Arthur A; Zeggini, Eleftheria E
Publication Date: 2021-12-02

Variant appearance in text: rs41341748
PubMed Link: 34857772
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27387.pdf
View BVdb publication page



Mapping the serum proteome to neurological diseases using whole genome sequencing.

Nature Communications
Png, Grace G; Barysenka, Andrei A; Repetto, Linda L; Navarro, Pau P; Shen, Xia X; Pietzner, Maik M; Wheeler, Eleanor E; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Dedoussis, George G; Mälarstig, Anders A; Wilson, James F JF; Gilly, Arthur A; Zeggini, Eleftheria E
Publication Date: 2021-12-02

Variant appearance in text: rs41341748
PubMed Link: 34857772
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27387.pdf
View BVdb publication page



Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics
Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA
Publication Date: 2021-02

Variant appearance in text: MSR1: Arg293Ter
PubMed Link: 33462484
Variant Present in the following documents:
  • NIHMS1651539-supplement-2.xlsx, sheet 9
View BVdb publication page



Exome sequencing reveals heterogeneous clonal dynamics in donor cell myeloid neoplasms after stem cell transplantation.

Haematologica
Suárez-González, Julia J; Triviño, Juan Carlos JC; Bautista, Guiomar G; García-Marco, José Antonio JA; Figuera, Ángela Á; Balas, Antonio A; Vicario, José Luis JL; Ortuño, Francisco José FJ; Teruel, Raúl R; María Álamo, José J; Carbonell, Diego D; Andrés-Zayas, Cristina C; Dorado, Nieves N; Rodríguez-Macías, Gabriela G; Kwon, Mi M; Díez-Martín, José Luis JL; Martínez-Laperche, Carolina C; Buño, Ismael I; Spanish Group For Hematopoietic Transplantation Geth,
Publication Date: 2020-11-01

Variant appearance in text: MSR1: 877C>T
PubMed Link: 33131255
Variant Present in the following documents:
  • Main text
  • 1052655.pdf
View BVdb publication page



Inflammation as a Driver of Prostate Cancer Metastasis and Therapeutic Resistance.

Cancers
Archer, Maddison M; Dogra, Navneet N; Kyprianou, Natasha N
Publication Date: 2020-10-15

Variant appearance in text: MSR1: ARG293x
PubMed Link: 33076397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy.

Journal Of The American Heart Association
Jiang, Xuan X; Shao, Yanqiu Y; Araj, Faris G FG; Amin, Alpesh A AA; Greenberg, Benjamin M BM; Drazner, Mark H MH; Xing, Chao C; Mammen, Pradeep P A PPA
Publication Date: 2020-10-20

Variant appearance in text: rs41341748
PubMed Link: 33003980
Variant Present in the following documents:
  • JAH3-9-e016799-s001.pdf
View BVdb publication page



Workflow for the Implementation of Precision Genomics in Healthcare.

Frontiers In Genetics
Mehandziska, Sanja S; Stajkovska, Aleksandra A; Stavrevska, Margarita M; Jakovleva, Kristina K; Janevska, Marija M; Rosalia, Rodney R; Kungulovski, Ivan I; Mitrev, Zan Z; Kungulovski, Goran G
Publication Date: 2020

Variant appearance in text: MSR1: 877C>T; Arg293*; rs41341748
PubMed Link: 32695137
Variant Present in the following documents:
  • Main text
  • fgene-11-00619.pdf
View BVdb publication page



Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Molecular Genetics & Genomic Medicine
Wong, Karen H Y KHY; Levy-Sakin, Michal M; Ma, Walfred W; Gonzaludo, Nina N; Mak, Angel C Y ACY; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Grenville, Zoe Z; Wong, Nicolas N; Kane, John P JP; Kwok, Pui-Yan PY; Malloy, Mary J MJ; Pullinger, Clive R CR
Publication Date: 2019-12

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 31617323
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole genome sequencing and rare variant analysis in essential tremor families.

Plos One
Odgerel, Zagaa Z; Sonti, Shilpa S; Hernandez, Nora N; Park, Jemin J; Ottman, Ruth R; Louis, Elan D ED; Clark, Lorraine N LN
Publication Date: 2019

Variant appearance in text: MSR1: 877C>T; Arg293Ter
PubMed Link: 31404076
Variant Present in the following documents:
  • Main text
  • pone.0220512.pdf
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Cancers
Quezada Urban, Rosalía R; Díaz Velásquez, Clara Estela CE; Gitler, Rina R; Rojo Castillo, María Patricia MP; Sirota Toporek, Max M; Figueroa Morales, Andrea A; Moreno García, Oscar O; García Esquivel, Lizbeth L; Torres Mejía, Gabriela G; Dean, Michael M; Delgado Enciso, Iván I; Ochoa Díaz López, Héctor H; Rodríguez León, Fernando F; Jan, Virginia V; Garzón Barrientos, Víctor Hugo VH; Ruiz Flores, Pablo P; Espino Silva, Perla Karina PK; Haro Santa Cruz, Jorge J; Martínez Gregorio, Héctor H; Rojas Jiménez, Ernesto Arturo EA; Romero Cruz, Luis Enrique LE; Méndez Catalá, Claudia Fabiola CF; Álvarez Gómez, Rosa María RM; Fragoso Ontiveros, Verónica V; Herrera, Luis Alonso LA; Romieu, Isabelle I; Terrazas, Luis Ignacio LI; Chirino, Yolanda Irasema YI; Frecha, Cecilia C; Oliver, Javier J; Perdomo, Sandra S; Vaca Paniagua, Felipe F
Publication Date: 2018-09-27

Variant appearance in text: MSR1: R293X
PubMed Link: 30262796
Variant Present in the following documents:
  • Main text
  • cancers-10-00361.pdf
View BVdb publication page



Function of macrophage scavenger receptor 1 gene polymorphisms in chronic obstructive pulmonary disease with and without lung cancer in China.

Oncology Letters
Xie, Liang L; Chen, Wei W; Dong, Ran R; He, Bin B; Zhao, Kaishun K; Zhang, Li L; Zhou, Min M; He, Ping P
Publication Date: 2018-05

Variant appearance in text: MSR1: Arg293X
PubMed Link: 29731913
Variant Present in the following documents:
  • Main text
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

Npj Genomic Medicine
Dale, Breanne B; Modi, Bonnie MacKinnon BM; Jilderda, Sanne S; McConnell, Beth B; Hoang, Ny N; Swaroop, Pooja P; Falcon, Jhoan J; Thiruvahindrapuram, Bhooma B; Walker, Susan S; Scherer, Stephen W SW; Stavropoulos, D James DJ; Drmic, Irene E IE; Carter, Melissa T MT
Publication Date: 2017

Variant appearance in text: MSR1: R293X
PubMed Link: 29263838
Variant Present in the following documents:
  • 41525_2017_31_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Architecture of the Cardiovascular Risk Proteome.

Circulation
Benson, Mark D MD; Yang, Qiong Q; Ngo, Debby D; Zhu, Yineng Y; Shen, Dongxiao D; Farrell, Laurie A LA; Sinha, Sumita S; Keyes, Michelle J MJ; Vasan, Ramachandran S RS; Larson, Martin G MG; Smith, J Gustav JG; Wang, Thomas J TJ; Gerszten, Robert E RE
Publication Date: 2018-03-13

Variant appearance in text: rs41341748
PubMed Link: 29258991
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Nature Medicine
Broutier, Laura L; Mastrogiovanni, Gianmarco G; Verstegen, Monique Ma MM; Francies, Hayley E HE; Gavarró, Lena Morrill LM; Bradshaw, Charles R CR; Allen, George E GE; Arnes-Benito, Robert R; Sidorova, Olga O; Gaspersz, Marcia P MP; Georgakopoulos, Nikitas N; Koo, Bon-Kyoung BK; Dietmann, Sabine S; Davies, Susan E SE; Praseedom, Raaj K RK; Lieshout, Ruby R; IJzermans, Jan N M JNM; Wigmore, Stephen J SJ; Saeb-Parsy, Kourosh K; Garnett, Mathew J MJ; van der Laan, Luc Jw LJ; Huch, Meritxell M
Publication Date: 2017-12

Variant appearance in text: MSR1: 877C>T; Arg293*
PubMed Link: 29131160
Variant Present in the following documents:
  • NIHMS74480-supplement-Supplementary_Dataset_4.xlsx, sheet 14
View BVdb publication page



De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Zarrei, Mehdi M; Fehlings, Darcy L DL; Mawjee, Karizma K; Switzer, Lauren L; Thiruvahindrapuram, Bhooma B; Walker, Susan S; Merico, Daniele D; Casallo, Guillermo G; Uddin, Mohammed M; MacDonald, Jeffrey R JR; Gazzellone, Matthew J MJ; Higginbotham, Edward J EJ; Campbell, Craig C; deVeber, Gabrielle G; Frid, Pam P; Gorter, Jan Willem JW; Hunt, Carolyn C; Kawamura, Anne A; Kim, Marie M; McCormick, Anna A; Mesterman, Ronit R; Samdup, Dawa D; Marshall, Christian R CR; Stavropoulos, Dimitri J DJ; Wintle, Richard F RF; Scherer, Stephen W SW
Publication Date: 2018-02

Variant appearance in text: MSR1: R293X
PubMed Link: 28771244
Variant Present in the following documents:
  • gim201783x4.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSR1: 877C>T; Arg293Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
Publication Date: 2017-05-31

Variant appearance in text: rs41341748
PubMed Link: 28569218
Variant Present in the following documents:
  • 13058_2017_854_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: MSR1: 877C>T; Arg293*
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page



Germline genetic profiling in prostate cancer: latest developments and potential clinical applications.

Future Science Oa
Ahmed, Mahbubl M; Eeles, Rosalind R
Publication Date: 2016-03

Variant appearance in text: MSR1: R293X
PubMed Link: 28031937
Variant Present in the following documents:
  • fso-02-87.pdf
View BVdb publication page



Prostate Cancer Genetics: A Review.

Ejifcc
Wallis, Christopher J D CJ; Nam, Robert K RK
Publication Date: 2015-03

Variant appearance in text: MSR1: Arg293X
PubMed Link: 27683484
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic susceptibility to Barrett's oesophagus: Lessons from early studies.

United European Gastroenterology Journal
Findlay, John M JM; Middleton, Mark R MR; Tomlinson, Ian I
Publication Date: 2016-08

Variant appearance in text: rs41341748
PubMed Link: 27536357
Variant Present in the following documents:
  • Main text
  • 10.1177_2050640615611018.pdf
View BVdb publication page



Analysis of protein-coding genetic variation in 60,706 humans.

Nature
Lek, Monkol M; Karczewski, Konrad J KJ; Minikel, Eric V EV; Samocha, Kaitlin E KE; Banks, Eric E; Fennell, Timothy T; O'Donnell-Luria, Anne H AH; Ware, James S JS; Hill, Andrew J AJ; Cummings, Beryl B BB; Tukiainen, Taru T; Birnbaum, Daniel P DP; Kosmicki, Jack A JA; Duncan, Laramie E LE; Estrada, Karol K; Zhao, Fengmei F; Zou, James J; Pierce-Hoffman, Emma E; Berghout, Joanne J; Cooper, David N DN; Deflaux, Nicole N; DePristo, Mark M; Do, Ron R; Flannick, Jason J; Fromer, Menachem M; Gauthier, Laura L; Goldstein, Jackie J; Gupta, Namrata N; Howrigan, Daniel D; Kiezun, Adam A; Kurki, Mitja I MI; Moonshine, Ami Levy AL; Natarajan, Pradeep P; Orozco, Lorena L; Peloso, Gina M GM; Poplin, Ryan R; Rivas, Manuel A MA; Ruano-Rubio, Valentin V; Rose, Samuel A SA; Ruderfer, Douglas M DM; Shakir, Khalid K; Stenson, Peter D PD; Stevens, Christine C; Thomas, Brett P BP; Tiao, Grace G; Tusie-Luna, Maria T MT; Weisburd, Ben B; Won, Hong-Hee HH; Yu, Dongmei D; Altshuler, David M DM; Ardissino, Diego D; Boehnke, Michael M; Danesh, John J; Donnelly, Stacey S; Elosua, Roberto R; Florez, Jose C JC; Gabriel, Stacey B SB; Getz, Gad G; Glatt, Stephen J SJ; Hultman, Christina M CM; Kathiresan, Sekar S; Laakso, Markku M; McCarroll, Steven S; McCarthy, Mark I MI; McGovern, Dermot D; McPherson, Ruth R; Neale, Benjamin M BM; Palotie, Aarno A; Purcell, Shaun M SM; Saleheen, Danish D; Scharf, Jeremiah M JM; Sklar, Pamela P; Sullivan, Patrick F PF; Tuomilehto, Jaakko J; Tsuang, Ming T MT; Watkins, Hugh C HC; Wilson, James G JG; Daly, Mark J MJ; MacArthur, Daniel G DG; ,
Publication Date: 2016-08-18

Variant appearance in text: MSR1: R293X
PubMed Link: 27535533
Variant Present in the following documents:
  • NIHMS798561-supplement-supp_table20.xlsx, sheet 1
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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: MSR1: 877C>T; Arg293Ter; rs41341748
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Association Between Germline Mutation in VSIG10L and Familial Barrett Neoplasia.

Jama Oncology
Fecteau, Ryan E RE; Kong, Jianping J; Kresak, Adam A; Brock, Wendy W; Song, Yeunjoo Y; Fujioka, Hisashi H; Elston, Robert R; Willis, Joseph E JE; Lynch, John P JP; Markowitz, Sanford D SD; Guda, Kishore K; Chak, Amitabh A
Publication Date: 2016-10-01

Variant appearance in text: MSR1: R293X
PubMed Link: 27467440
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Qatar genome: a population-specific tool for precision medicine in the Middle East.

Human Genome Variation
Fakhro, Khalid A KA; Staudt, Michelle R MR; Ramstetter, Monica Denise MD; Robay, Amal A; Malek, Joel A JA; Badii, Ramin R; Al-Marri, Ajayeb Al-Nabet AA; Abi Khalil, Charbel C; Al-Shakaki, Alya A; Chidiac, Omar O; Stadler, Dora D; Zirie, Mahmoud M; Jayyousi, Amin A; Salit, Jacqueline J; Mezey, Jason G JG; Crystal, Ronald G RG; Rodriguez-Flores, Juan L JL
Publication Date: 2016

Variant appearance in text: rs41341748
PubMed Link: 27408750
Variant Present in the following documents:
View BVdb publication page



Inflammation in prostate cancer progression and therapeutic targeting.

Translational Andrology And Urology
Stark, Timothy T; Livas, Lydia L; Kyprianou, Natasha N
Publication Date: 2015-08

Variant appearance in text: MSR1: ARG293x
PubMed Link: 26816843
Variant Present in the following documents:
  • Main text
  • tau-04-04-455.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: rs41341748
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine
Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P
Publication Date: 2014-09

Variant appearance in text: MSR1: R293*; rs41341748
PubMed Link: 25333069
Variant Present in the following documents:
  • Main text
  • mgg30002-0438.pdf
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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Overexpression of CD163, CD204 and CD206 on alveolar macrophages in the lungs of patients with severe chronic obstructive pulmonary disease.

Plos One
Kaku, Yoichiro Y; Imaoka, Haruki H; Morimatsu, Yoshitaka Y; Komohara, Yoshihiro Y; Ohnishi, Koji K; Oda, Hanako H; Takenaka, Shinichi S; Matsuoka, Masanobu M; Kawayama, Tomotaka T; Takeya, Motohiro M; Hoshino, Tomoaki T
Publication Date: 2014

Variant appearance in text: CD204: Arg293X
PubMed Link: 24498098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: MSR1: R293X; rs41341748
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page



Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Plos Genetics
Thompson, Ella R ER; Doyle, Maria A MA; Ryland, Georgina L GL; Rowley, Simone M SM; Choong, David Y H DY; Tothill, Richard W RW; Thorne, Heather H; , ; Barnes, Daniel R DR; Li, Jason J; Ellul, Jason J; Philip, Gayle K GK; Antill, Yoland C YC; James, Paul A PA; Trainer, Alison H AH; Mitchell, Gillian G; Campbell, Ian G IG
Publication Date: 2012-09

Variant appearance in text: MSR1: R293*; rs41341748
PubMed Link: 23028338
Variant Present in the following documents:
  • pgen.1002894.s003.xlsx, sheet 1
View BVdb publication page



Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma.

Jama
Orloff, Mohammed M; Peterson, Charissa C; He, Xin X; Ganapathi, Shireen S; Heald, Brandie B; Yang, Yi-ran YR; Bebek, Gurkan G; Romigh, Todd T; Song, Jee Hoon JH; Wu, Wenjing W; David, Stefan S; Cheng, Yulan Y; Meltzer, Stephen J SJ; Eng, Charis C
Publication Date: 2011-07-27

Variant appearance in text: MSR1: 877C>T; R293X
PubMed Link: 21791690
Variant Present in the following documents:
  • Main text
View BVdb publication page



COPD is associated with a macrophage scavenger receptor-1 gene sequence variation.

Chest
Ohar, Jill A JA; Hamilton, Raymond F RF; Zheng, Siqun S; Sadeghnejad, Alireza A; Sterling, David A DA; Xu, Jianfeng J; Meyers, Deborah A DA; Bleecker, Eugene R ER; Holian, Andrij A
Publication Date: 2010-05

Variant appearance in text: rs41341748
PubMed Link: 20081102
Variant Present in the following documents:
  • Main text
View BVdb publication page



Selected aspects of inherited susceptibility to prostate cancer and tumours of different site of origin.

Hereditary Cancer In Clinical Practice
Cybulski, Cezary C
Publication Date: 2007-09-15

Variant appearance in text: MSR1: R293X
PubMed Link: 19725994
Variant Present in the following documents:
  • Main text
  • 1897-4287-5-3-164.pdf
View BVdb publication page



Genetic susceptibility to prostate cancer in men of African descent: implications for global disparities in incidence and outcomes.

The Canadian Journal Of Urology
Zeigler-Johnson, Charnita M CM; Spangler, Elaine E; Jalloh, Mohamed M; Gueye, Serigne M SM; Rennert, Hanna H; Rebbeck, Timothy R TR
Publication Date: 2008-02

Variant appearance in text: MSR1: Arg293X
PubMed Link: 18304397
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inflammation in prostate carcinogenesis.

Nature Reviews. Cancer
De Marzo, Angelo M AM; Platz, Elizabeth A EA; Sutcliffe, Siobhan S; Xu, Jianfeng J; Grönberg, Henrik H; Drake, Charles G CG; Nakai, Yasutomo Y; Isaacs, William B WB; Nelson, William G WG
Publication Date: 2007-04

Variant appearance in text: MSR1: R293X
PubMed Link: 17384581
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk.

American Journal Of Human Genetics
Xu, Jianfeng J; Zheng, S Lilly SL; Komiya, Akira A; Mychaleckyj, Josyf C JC; Isaacs, Sarah D SD; Chang, Baoli B; Turner, Aubrey R AR; Ewing, Charles M CM; Wiley, Kathleen E KE; Hawkins, Gregory A GA; Bleecker, Eugene R ER; Walsh, Patrick C PC; Meyers, Deborah A DA; Isaacs, William B WB
Publication Date: 2003-01

Variant appearance in text: MSR1: Arg293X
PubMed Link: 12471593
Variant Present in the following documents:
  • Main text
View BVdb publication page