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: NUP93: 1772G>T; Gly591Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.

Frontiers In Genetics

Gao, Min M; Yu, Fengling F; Dong, Rui R; Zhang, Kaihui K; Lv, Yuqiang Y; Ma, Jian J; Wang, Dong D; Zhang, Hongxia H; Gai, Zhongtao Z; Liu, Yi Y

Publication Date: 2022

Variant appearance in text: NUP93: 1772G>T; G591V

PubMed Link: 36685964

Variant Present in the following documents:

• Main text

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Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.

Human Genomics

Hussain, Hafiz Muhammad Jafar HMJ; Cai, Yikai Y; Weng, Qinjie Q; Tong, Jun J; Aftab, Ayesha A; Jin, Yuanmeng Y; Liu, Jian J; Yu, Shuwen S; Fang, Zhengying Z; Du, Wen W; Pan, Xiaoxia X; Ren, Hong H; Xie, Jingyuan J

Publication Date: 2022-11-12

Variant appearance in text: NUP93: G591V

PubMed Link: 36371311

Variant Present in the following documents:

• Main text
• 40246_2022_Article_430.pdf

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Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations.

Frontiers In Pediatrics

Cason, Rachel K RK; Williams, Anna A; Chryst-Stangl, Megan M; Wu, Guanghong G; Huggins, Kinsie K; Brathwaite, Kaye E KE; Lane, Brandon M BM; Greenbaum, Larry A LA; D'Agati, Vivette D VD; Gbadegesin, Rasheed A RA

Publication Date: 2022

Variant appearance in text: NUP93: 1772G>T; G591V

PubMed Link: 35874595

Variant Present in the following documents:

• Main text
• fped-10-915174.pdf

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The Thousand Polish Genomes-A Database of Polish Variant Allele Frequencies.

International Journal Of Molecular Sciences

Kaja, Elżbieta E; Lejman, Adrian A; Sielski, Dawid D; Sypniewski, Mateusz M; Gambin, Tomasz T; Dawidziuk, Mateusz M; Suchocki, Tomasz T; Golik, Paweł P; Wojtaszewska, Marzena M; Mroczek, Magdalena M; Stępień, Maria M; Szyda, Joanna J; Lisiak-Teodorczyk, Karolina K; Wolbach, Filip F; Kołodziejska, Daria D; Ferdyn, Katarzyna K; Dąbrowski, Maciej M; Woźna, Alicja A; Żytkiewicz, Marcin M; Bodora-Troińska, Anna A; Elikowski, Waldemar W; Król, Zbigniew J ZJ; Zaczyński, Artur A; Pawlak, Agnieszka A; Gil, Robert R; Wierzba, Waldemar W; Dobosz, Paula P; Zawadzka, Katarzyna K; Zawadzki, Paweł P; Sztromwasser, Paweł P

Publication Date: 2022-04-20

Variant appearance in text: NUP93: 1772G>T

PubMed Link: 35562925

Variant Present in the following documents:

• Main text
• ijms-23-04532.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: NUP93: G591V; rs145473779

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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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: NUP93: G591V

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Abstracts of the 53rd ESPN Annual Meeting, Amsterdam, The Netherlands, September 2021.

Pediatric Nephrology (Berlin, Germany)

Publication Date: 2021-08-25

Variant appearance in text: NUP93: 1772G>T

PubMed Link: 34432141

Variant Present in the following documents:

• 467_2021_Article_5210.pdf

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A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.

Pediatric Nephrology (Berlin, Germany)

Mason, Anna E AE; Saleem, Moin A MA; Bierzynska, Agnieszka A

Publication Date: 2021-11

Variant appearance in text: NUP93: 1772G>T; Gly591Val

PubMed Link: 34031708

Variant Present in the following documents:

• Main text
• 467_2021_Article_5134.pdf

View BVdb publication page

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A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.

Pediatric Nephrology (Berlin, Germany)

Mason, Anna E AE; Saleem, Moin A MA; Bierzynska, Agnieszka A

Publication Date: 2021-11

Variant appearance in text: NUP93: 1772G>T; Gly591Val

PubMed Link: 34031708

Variant Present in the following documents:

• Main text
• 467_2021_Article_5134.pdf

View BVdb publication page

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Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report.

Medicine

Zhao, Bo B; Chen, Ji-Yu JY; Liao, Ya-Bin YB; Li, Yan-Fang YF; Jiang, Xue-Mei XM; Bi, Xin X; Yang, Mi-Feng MF; Li, Li L; Cui, Jing-Jing JJ

Publication Date: 2021-02-12

Variant appearance in text: NUP93: 1772G>T; G591V

PubMed Link: 33578576

Variant Present in the following documents:

• Main text
• medi-100-e24627.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: NUP93: G591V

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental Glomerulosclerosis.

Kidney International Reports

Hashimoto, Taeko T; Harita, Yutaka Y; Takizawa, Keiichi K; Urae, Seiya S; Ishizuka, Kiyonobu K; Miura, Kenichiro K; Horita, Shigeru S; Ogino, Daisuke D; Tamiya, Gen G; Ishida, Hideki H; Mitsui, Tetsuo T; Hayasaka, Kiyoshi K; Hattori, Motoshi M

Publication Date: 2019-09

Variant appearance in text: NUP93: G591V

PubMed Link: 31517150

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: NUP93: G591V; rs145473779

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.

Plos Genetics

Padovan-Merhar, Olivia M OM; Raman, Pichai P; Ostrovnaya, Irina I; Kalletla, Karthik K; Rubnitz, Kaitlyn R KR; Sanford, Eric M EM; Ali, Siraj M SM; Miller, Vincent A VA; Mossé, Yael P YP; Granger, Meaghan P MP; Weiss, Brian B; Maris, John M JM; Modak, Shakeel S

Publication Date: 2016-12

Variant appearance in text: NUP93: 1772G>T; G591V

PubMed Link: 27997549

Variant Present in the following documents:

• pgen.1006501.s002.xlsx, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: NUP93: G591V

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.

Nature Genetics

Braun, Daniela A DA; Sadowski, Carolin E CE; Kohl, Stefan S; Lovric, Svjetlana S; Astrinidis, Susanne A SA; Pabst, Werner L WL; Gee, Heon Yung HY; Ashraf, Shazia S; Lawson, Jennifer A JA; Shril, Shirlee S; Airik, Merlin M; Tan, Weizhen W; Schapiro, David D; Rao, Jia J; Choi, Won-Il WI; Hermle, Tobias T; Kemper, Markus J MJ; Pohl, Martin M; Ozaltin, Fatih F; Konrad, Martin M; Bogdanovic, Radovan R; Büscher, Rainer R; Helmchen, Udo U; Serdaroglu, Erkin E; Lifton, Richard P RP; Antonin, Wolfram W; Hildebrandt, Friedhelm F

Publication Date: 2016-04

Variant appearance in text: NUP93: Gly591Val

PubMed Link: 26878725

Variant Present in the following documents:

• Main text
• NIHMS754396-supplement-3.pdf
• nihms754396.pdf

View BVdb publication page

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