Publications:

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A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.

International Journal Of Molecular Sciences

Spinetti, Elena E; Delre, Pietro P; Saviano, Michele M; Siliqi, Dritan D; Lattanzi, Gianluca G; Mangiatordi, Giuseppe Felice GF

Publication Date: 2022-07-19

Variant appearance in text: SBDS: R126T

PubMed Link: 35887285

Variant Present in the following documents:

• Main text
• ijms-23-07938.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: SBDS: R126T; rs113993995

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: SBDS: 377G>C; R126T

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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Translating the Game: Ribosomes as Active Players.

Frontiers In Genetics

Calamita, Piera P; Gatti, Guido G; Miluzio, Annarita A; Scagliola, Alessandra A; Biffo, Stefano S

Publication Date: 2018

Variant appearance in text: SBDS: R126T

PubMed Link: 30498507

Variant Present in the following documents:

• Main text
• fgene-09-00533.pdf

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Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.

Advances In Biological Regulation

Warren, Alan J AJ

Publication Date: 2018-01

Variant appearance in text: SBDS: R126T

PubMed Link: 28942353

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.

Plos Genetics

Calamita, Piera P; Miluzio, Annarita A; Russo, Arianna A; Pesce, Elisa E; Ricciardi, Sara S; Khanim, Farhat F; Cheroni, Cristina C; Alfieri, Roberta R; Mancino, Marilena M; Gorrini, Chiara C; Rossetti, Grazisa G; Peluso, Ivana I; Pagani, Massimiliano M; Medina, Diego L DL; Rommens, Johanna J; Biffo, Stefano S

Publication Date: 2017-01

Variant appearance in text: SBDS: 377G>C; R126T

PubMed Link: 28056084

Variant Present in the following documents:

• Main text
• pgen.1006552.pdf

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Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.

Nucleic Acids Research

In, Kyungmin K; Zaini, Mohamad A MA; Müller, Christine C; Warren, Alan J AJ; von Lindern, Marieke M; Calkhoven, Cornelis F CF

Publication Date: 2016-05-19

Variant appearance in text: SBDS: R126T

PubMed Link: 26762974

Variant Present in the following documents:

• Main text
• gkw005.pdf

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Direct and high throughput (HT) interactions on the ribosomal surface by iRIA.

Scientific Reports

Pesce, Elisa E; Minici, Claudia C; Baβler, Jochen J; Hurt, Ed E; Degano, Massimo M; Calamita, Piera P; Biffo, Stefano S

Publication Date: 2015-10-21

Variant appearance in text: SBDS: R126T

PubMed Link: 26486184

Variant Present in the following documents:

• Main text
• srep15401.pdf

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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: SBDS: R126T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Blood

Burwick, Nicholas N; Coats, Scott A SA; Nakamura, Tomoka T; Shimamura, Akiko A

Publication Date: 2012-12-20

Variant appearance in text: SBDS: R126T

PubMed Link: 23115272

Variant Present in the following documents:

• Main text

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Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back.

Annals Of The New York Academy Of Sciences

Liu, Johnson M JM; Lipton, Jeffrey M JM; Mani, Sridhar S

Publication Date: 2011-12

Variant appearance in text: SBDS: R126T

PubMed Link: 22191554

Variant Present in the following documents:

• Main text

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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

Genes & Development

Finch, Andrew J AJ; Hilcenko, Christine C; Basse, Nicolas N; Drynan, Lesley F LF; Goyenechea, Beatriz B; Menne, Tobias F TF; González Fernández, Africa A; Simpson, Paul P; D'Santos, Clive S CS; Arends, Mark J MJ; Donadieu, Jean J; Bellanné-Chantelot, Christine C; Costanzo, Michael M; Boone, Charles C; McKenzie, Andrew N AN; Freund, Stefan M V SM; Warren, Alan J AJ

Publication Date: 2011-05-01

Variant appearance in text: SBDS: R126T

PubMed Link: 21536732

Variant Present in the following documents:

• Main text

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Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

Human Molecular Genetics

Ball, Heather L HL; Zhang, Bing B; Riches, J Jacob JJ; Gandhi, Rikesh R; Li, Jing J; Rommens, Johanna M JM; Myers, Jeremy S JS

Publication Date: 2009-10-01

Variant appearance in text: SBDS: R126T

PubMed Link: 19602484

Variant Present in the following documents:

• Main text

View BVdb publication page

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