Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SAMHD1: 602T>A; Ile201Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.

Frontiers In Pediatrics

Hong, Soon-Min SM; Chen, Wei W; Feng, Jiaqi J; Dai, Dai D; Shen, Nan N

Publication Date: 2022

Variant appearance in text: SAMHD1: I201N

PubMed Link: 35633950

Variant Present in the following documents:

• Main text
• fped-10-885006.pdf

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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: SAMHD1: I201N; rs138603088

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Structural and functional characterization explains loss of dNTPase activity of the cancer-specific R366C/H mutant SAMHD1 proteins.

The Journal Of Biological Chemistry

Bowen, Nicole E NE; Temple, Joshua J; Shepard, Caitlin C; Oo, Adrian A; Arizaga, Fidel F; Kapoor-Vazirani, Priya P; Persaud, Mirjana M; Yu, Corey H CH; Kim, Dong-Hyun DH; Schinazi, Raymond F RF; Ivanov, Dmitri N DN; Diaz-Griffero, Felipe F; Yu, David S DS; Xiong, Yong Y; Kim, Baek B

Publication Date: 2021-10

Variant appearance in text: SAMHD1: I201N

PubMed Link: 34492268

Variant Present in the following documents:

• Main text

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SAMHD1 in cancer: curse or cure?

Journal Of Molecular Medicine (Berlin, Germany)

Schott, Kerstin K; Majer, Catharina C; Bulashevska, Alla A; Childs, Liam L; Schmidt, Mirko H H MHH; Rajalingam, Krishnaraj K; Munder, Markus M; König, Renate R

Publication Date: 2022-03

Variant appearance in text: SAMHD1: I201N

PubMed Link: 34480199

Variant Present in the following documents:

• Main text
• 109_2021_Article_2131.pdf

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Dual roles of SAMHD1 in tumor development and chemoresistance to anticancer drugs.

Oncology Letters

Chen, Zhangming Z; Hu, Jie J; Ying, Songcheng S; Xu, Aman A

Publication Date: 2021-06

Variant appearance in text: SAMHD1: I201N

PubMed Link: 33907561

Variant Present in the following documents:

• Main text

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Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.

Leukemia

Blakemore, Stuart J SJ; Clifford, Ruth R; Parker, Helen H; Antoniou, Pavlos P; Stec-Dziedzic, Ewa E; Larrayoz, Marta M; Davis, Zadie Z; Kadalyayil, Latha L; Colins, Andrew A; Robbe, Pauline P; Vavoulis, Dimitris D; Forster, Jade J; Carr, Louise L; Morilla, Ricardo R; Else, Monica M; Bryant, Dean D; McCarthy, Helen H; Walewska, Renata J RJ; Steele, Andrew J AJ; Chan, Jacqueline J; Speight, Graham G; Stankovic, Tanja T; Cragg, Mark S MS; Catovsky, Daniel D; Oscier, David G DG; Rose-Zerilli, Matthew J J MJJ; Schuh, Anna A; Strefford, Jonathan C JC

Publication Date: 2020-07

Variant appearance in text: SAMHD1: I201N

PubMed Link: 32015491

Variant Present in the following documents:

• 41375_2020_723_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Nature Communications

Rashid, Mamunur M; van der Horst, Michiel M; Mentzel, Thomas T; Butera, Francesca F; Ferreira, Ingrid I; Pance, Alena A; Rütten, Arno A; Luzar, Bostjan B; Marusic, Zlatko Z; de Saint Aubain, Nicolas N; Ko, Jennifer S JS; Billings, Steven D SD; Chen, Sofia S; Abi Daoud, Marie M; Hewinson, James J; Louzada, Sandra S; Harms, Paul W PW; Cerretelli, Guia G; Robles-Espinoza, Carla Daniela CD; Patel, Rajiv M RM; van der Weyden, Louise L; Bakal, Chris C; Hornick, Jason L JL; Arends, Mark J MJ; Brenn, Thomas T; Adams, David J DJ

Publication Date: 2019-05-17

Variant appearance in text: SAMHD1: 602T>A; Ile201Asn

PubMed Link: 31101826

Variant Present in the following documents:

• 41467_2019_9979_MOESM5_ESM.xlsx, sheet 5

View BVdb publication page

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Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.

Cold Spring Harbor Molecular Case Studies

Haskell, Gloria T GT; Mori, Mari M; Powell, Cynthia C; Amrhein, Timothy J TJ; Rice, Gillian I GI; Bailey, Lauren L; Strande, Natasha N; Weck, Karen E KE; Evans, James P JP; Berg, Jonathan S JS; Kishnani, Priya P

Publication Date: 2018-10

Variant appearance in text: SAMHD1: 602T>A

PubMed Link: 30275001

Variant Present in the following documents:

• Main text
• MCS002758Has.pdf

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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: SAMHD1: 602T>A; Ile201Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

Human Mutation

White, Tommy E TE; Brandariz-Nuñez, Alberto A; Martinez-Lopez, Alicia A; Knowlton, Caitlin C; Lenzi, Gina G; Kim, Baek B; Ivanov, Dmitri D; Diaz-Griffero, Felipe F

Publication Date: 2017-06

Variant appearance in text: SAMHD1: I201N

PubMed Link: 28229507

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: AGS5: I201N

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SAMHD1: I201N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

American Journal Of Medical Genetics. Part A

Crow, Yanick J YJ; Chase, Diana S DS; Lowenstein Schmidt, Johanna J; Szynkiewicz, Marcin M; Forte, Gabriella M A GM; Gornall, Hannah L HL; Oojageer, Anthony A; Anderson, Beverley B; Pizzino, Amy A; Helman, Guy G; Abdel-Hamid, Mohamed S MS; Abdel-Salam, Ghada M GM; Ackroyd, Sam S; Aeby, Alec A; Agosta, Guillermo G; Albin, Catherine C; Allon-Shalev, Stavit S; Arellano, Montse M; Ariaudo, Giada G; Aswani, Vijay V; Babul-Hirji, Riyana R; Baildam, Eileen M EM; Bahi-Buisson, Nadia N; Bailey, Kathryn M KM; Barnerias, Christine C; Barth, Magalie M; Battini, Roberta R; Beresford, Michael W MW; Bernard, Geneviève G; Bianchi, Marika M; Billette de Villemeur, Thierry T; Blair, Edward M EM; Bloom, Miriam M; Burlina, Alberto B AB; Carpanelli, Maria Luisa ML; Carvalho, Daniel R DR; Castro-Gago, Manuel M; Cavallini, Anna A; Cereda, Cristina C; Chandler, Kate E KE; Chitayat, David A DA; Collins, Abigail E AE; Sierra Corcoles, Concepcion C; Cordeiro, Nuno J V NJ; Crichiutti, Giovanni G; Dabydeen, Lyvia L; Dale, Russell C RC; D'Arrigo, Stefano S; De Goede, Christian G E L CG; De Laet, Corinne C; De Waele, Liesbeth M H LM; Denzler, Ines I; Desguerre, Isabelle I; Devriendt, Koenraad K; Di Rocco, Maja M; Fahey, Michael C MC; Fazzi, Elisa E; Ferrie, Colin D CD; Figueiredo, António A; Gener, Blanca B; Goizet, Cyril C; Gowrinathan, Nirmala R NR; Gowrishankar, Kalpana K; Hanrahan, Donncha D; Isidor, Bertrand B; Kara, Bülent B; Khan, Nasaim N; King, Mary D MD; Kirk, Edwin P EP; Kumar, Ram R; Lagae, Lieven L; Landrieu, Pierre P; Lauffer, Heinz H; Laugel, Vincent V; La Piana, Roberta R; Lim, Ming J MJ; Lin, Jean-Pierre S-M JP; Linnankivi, Tarja T; Mackay, Mark T MT; Marom, Daphna R DR; Marques Lourenço, Charles C; McKee, Shane A SA; Moroni, Isabella I; Morton, Jenny E V JE; Moutard, Marie-Laure ML; Murray, Kevin K; Nabbout, Rima R; Nampoothiri, Sheela S; Nunez-Enamorado, Noemi N; Oades, Patrick J PJ; Olivieri, Ivana I; Ostergaard, John R JR; Pérez-Dueñas, Belén B; Prendiville, Julie S JS; Ramesh, Venkateswaran V; Rasmussen, Magnhild M; Régal, Luc L; Ricci, Federica F; Rio, Marlène M; Rodriguez, Diana D; Roubertie, Agathe A; Salvatici, Elisabetta E; Segers, Karin A KA; Sinha, Gyanranjan P GP; Soler, Doriette D; Spiegel, Ronen R; Stödberg, Tommy I TI; Straussberg, Rachel R; Swoboda, Kathryn J KJ; Suri, Mohnish M; Tacke, Uta U; Tan, Tiong Y TY; te Water Naude, Johann J; Wee Teik, Keng K; Thomas, Maya Mary MM; Till, Marianne M; Tonduti, Davide D; Valente, Enza Maria EM; Van Coster, Rudy Noel RN; van der Knaap, Marjo S MS; Vassallo, Grace G; Vijzelaar, Raymon R; Vogt, Julie J; Wallace, Geoffrey B GB; Wassmer, Evangeline E; Webb, Hannah J HJ; Whitehouse, William P WP; Whitney, Robyn N RN; Zaki, Maha S MS; Zuberi, Sameer M SM; Livingston, John H JH; Rozenberg, Flore F; Lebon, Pierre P; Vanderver, Adeline A; Orcesi, Simona S; Rice, Gillian I GI

Publication Date: 2015-02

Variant appearance in text: SAMHD1: Ile201Asn

PubMed Link: 25604658

Variant Present in the following documents:

• Main text

View BVdb publication page

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SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

Blood

Clifford, Ruth R; Louis, Tania T; Robbe, Pauline P; Ackroyd, Sam S; Burns, Adam A; Timbs, Adele T AT; Wright Colopy, Glen G; Dreau, Helene H; Sigaux, Francois F; Judde, Jean Gabriel JG; Rotger, Margalida M; Telenti, Amalio A; Lin, Yea-Lih YL; Pasero, Philippe P; Maelfait, Jonathan J; Titsias, Michalis M; Cohen, Dena R DR; Henderson, Shirley J SJ; Ross, Mark T MT; Bentley, David D; Hillmen, Peter P; Pettitt, Andrew A; Rehwinkel, Jan J; Knight, Samantha J L SJ; Taylor, Jenny C JC; Crow, Yanick J YJ; Benkirane, Monsef M; Schuh, Anna A

Publication Date: 2014-02-13

Variant appearance in text: SAMHD1: I201N

PubMed Link: 24335234

Variant Present in the following documents:

• Main text

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The Vpx lentiviral accessory protein targets SAMHD1 for degradation in the nucleus.

Journal Of Virology

Hofmann, Henning H; Logue, Eric C EC; Bloch, Nicolin N; Daddacha, Waaqo W; Polsky, Sylvie B SB; Schultz, Megan L ML; Kim, Baek B; Landau, Nathaniel R NR

Publication Date: 2012-12

Variant appearance in text: SAMHD1: I201N

PubMed Link: 22973040

Variant Present in the following documents:

• Main text

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Role of SAMHD1 nuclear localization in restriction of HIV-1 and SIVmac.

Retrovirology

Brandariz-Nuñez, Alberto A; Valle-Casuso, Jose Carlos JC; White, Tommy E TE; Laguette, Nadine N; Benkirane, Monsef M; Brojatsch, Jurgen J; Diaz-Griffero, Felipe F

Publication Date: 2012-06-12

Variant appearance in text: SAMHD1: I201N

PubMed Link: 22691373

Variant Present in the following documents:

• Main text
• 1742-4690-9-49.pdf

View BVdb publication page

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

Nature Genetics

Rice, Gillian I GI; Bond, Jacquelyn J; Asipu, Aruna A; Brunette, Rebecca L RL; Manfield, Iain W IW; Carr, Ian M IM; Fuller, Jonathan C JC; Jackson, Richard M RM; Lamb, Teresa T; Briggs, Tracy A TA; Ali, Manir M; Gornall, Hannah H; Couthard, Lydia R LR; Aeby, Alec A; Attard-Montalto, Simon P SP; Bertini, Enrico E; Bodemer, Christine C; Brockmann, Knut K; Brueton, Louise A LA; Corry, Peter C PC; Desguerre, Isabelle I; Fazzi, Elisa E; Cazorla, Angels Garcia AG; Gener, Blanca B; Hamel, Ben C J BC; Heiberg, Arvid A; Hunter, Matthew M; van der Knaap, Marjo S MS; Kumar, Ram R; Lagae, Lieven L; Landrieu, Pierre G PG; Lourenco, Charles M CM; Marom, Daphna D; McDermott, Michael F MF; van der Merwe, William W; Orcesi, Simona S; Prendiville, Julie S JS; Rasmussen, Magnhild M; Shalev, Stavit A SA; Soler, Doriette M DM; Shinawi, Marwan M; Spiegel, Ronen R; Tan, Tiong Y TY; Vanderver, Adeline A; Wakeling, Emma L EL; Wassmer, Evangeline E; Whittaker, Elizabeth E; Lebon, Pierre P; Stetson, Daniel B DB; Bonthron, David T DT; Crow, Yanick J YJ

Publication Date: 2009-07

Variant appearance in text: SAMHD1: I201N

PubMed Link: 19525956

Variant Present in the following documents:

• Main text

View BVdb publication page

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