Publications:

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Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.

Nature Communications

Yu, Jina J; Yan, Chunli C; Dodd, Thomas T; Tsai, Chi-Lin CL; Tainer, John A JA; Tsutakawa, Susan E SE; Ivanov, Ivaylo I

Publication Date: 2023-05-13

Variant appearance in text: XPD: R592P

PubMed Link: 37179334

Variant Present in the following documents:

• 41467_2023_38416_MOESM3_ESM.pdf
• 41467_2023_38416_MOESM4_ESM.xlsx, sheet 1
• 41467_2023_Article_38416.pdf

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Germline pathogenic variants in 786 neuroblastoma patients.

Medrxiv : The Preprint Server For Health Sciences

Kim, Jung J; Vaksman, Zalman Z; Egolf, Laura E LE; Kaufman, Rebecca R; Evans, J Perry JP; Conkrite, Karina L KL; Danesh, Arnavaz A; Lopez, Gonzalo G; Randall, Michael P MP; Dent, Maiah H MH; Farra, Lance M LM; Menghani, Neil N; Dymek, Malwina M; Desai, Heena H; Hausler, Ryan R; , ; , ; , ; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Hakonarson, Hakon H; Maxwell, Kara N KN; Cole, Kristina A KA; Pugh, Trevor J TJ; Bosse, Kristopher R KR; Khan, Javed J; Wei, Jun S JS; Maris, John M JM; Stewart, Douglas R DR; Diskin, Sharon J SJ

Publication Date: 2023-01-25

Variant appearance in text: ERCC2: R592P

PubMed Link: 36747619

Variant Present in the following documents:

• media-2.xlsx, sheet 3

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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: ERCC2: R592P

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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Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Frontiers In Molecular Biosciences

Tsutakawa, Susan E SE; Bacolla, Albino A; Katsonis, Panagiotis P; Bralić, Amer A; Hamdan, Samir M SM; Lichtarge, Olivier O; Tainer, John A JA; Tsai, Chi-Lin CL

Publication Date: 2021

Variant appearance in text: XPD: R592P

PubMed Link: 34966786

Variant Present in the following documents:

• Main text
• fmolb-08-791792.pdf

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Transcription preinitiation complex structure and dynamics provide insight into genetic diseases.

Nature Structural & Molecular Biology

Yan, Chunli C; Dodd, Thomas T; He, Yuan Y; Tainer, John A JA; Tsutakawa, Susan E SE; Ivanov, Ivaylo I

Publication Date: 2019-06

Variant appearance in text: XPD: R592P

PubMed Link: 31110295

Variant Present in the following documents:

• Main text
• nihms-1525853.pdf
• NIHMS1525853-supplement-3.pdf

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The complete structure of the human TFIIH core complex.

Elife

Greber, Basil J BJ; Toso, Daniel B DB; Fang, Jie J; Nogales, Eva E

Publication Date: 2019-03-12

Variant appearance in text: XPD: R592P

PubMed Link: 30860024

Variant Present in the following documents:

• Main text
• elife-44771.pdf

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Deep multi-region whole-genome sequencing reveals heterogeneity and gene-by-environment interactions in treatment-naive, metastatic lung cancer.

Oncogene

Leong, Tracy L TL; Gayevskiy, Velimir V; Steinfort, Daniel P DP; De Massy, Marc R MR; Gonzalez-Rajal, Alvaro A; Marini, Kieren D KD; Stone, Emily E; Chin, Venessa V; Havryk, Adrian A; Plit, Marshall M; Irving, Louis B LB; Jennings, Barton R BR; McCloy, Rachael A RA; Jayasekara, W Samantha N WSN; Alamgeer, Muhammad M; Boolell, Vishal V; Field, Andrew A; Russell, Prudence A PA; Kumar, Beena B; Gough, Daniel J DJ; Szczepny, Anette A; Ganju, Vinod V; Rossello, Fernando J FJ; Cain, Jason E JE; Papenfuss, Anthony T AT; Asselin-Labat, Marie-Liesse ML; Cowley, Mark J MJ; Watkins, D Neil DN

Publication Date: 2019-03

Variant appearance in text: ERCC2: 1775G>C; Arg592Pro

PubMed Link: 30348992

Variant Present in the following documents:

• 41388_2018_536_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

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XPD-The Lynchpin of NER: Molecule, Gene, Polymorphisms, and Role in Colorectal Carcinogenesis.

Frontiers In Molecular Biosciences

Sameer, Aga Syed AS; Nissar, Saniya S

Publication Date: 2018

Variant appearance in text: XPD: R592P

PubMed Link: 29616226

Variant Present in the following documents:

• Main text
• fmolb-05-00023.pdf

View BVdb publication page

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Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.

Bmc Bioinformatics

Sivley, R Michael RM; Sheehan, Jonathan H JH; Kropski, Jonathan A JA; Cogan, Joy J; Blackwell, Timothy S TS; Phillips, John A JA; Bush, William S WS; Meiler, Jens J; Capra, John A JA

Publication Date: 2018-01-23

Variant appearance in text: XPD: R592P

PubMed Link: 29361909

Variant Present in the following documents:

• 12859_2018_2010_MOESM3_ESM.xlsx, sheet 1

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: XPD: R592P

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: ERCC2: R592P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM2_ESM.xls, sheet 1
• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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In TFIIH, XPD helicase is exclusively devoted to DNA repair.

Plos Biology

Kuper, Jochen J; Braun, Cathy C; Elias, Agnes A; Michels, Gudrun G; Sauer, Florian F; Schmitt, Dominik R DR; Poterszman, Arnaud A; Egly, Jean-Marc JM; Kisker, Caroline C

Publication Date: 2014-09

Variant appearance in text: XPD: R592P

PubMed Link: 25268380

Variant Present in the following documents:

• Main text
• pbio.1001954.pdf

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Structure of the DNA repair helicase XPD.

Cell

Liu, Huanting H; Rudolf, Jana J; Johnson, Kenneth A KA; McMahon, Stephen A SA; Oke, Muse M; Carter, Lester L; McRobbie, Anne-Marie AM; Brown, Sara E SE; Naismith, James H JH; White, Malcolm F MF

Publication Date: 2008-05-30

Variant appearance in text: XPD: R592P

PubMed Link: 18510925

Variant Present in the following documents:

• Main text

View BVdb publication page

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XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.

Cell

Fan, Li L; Fuss, Jill O JO; Cheng, Quen J QJ; Arvai, Andrew S AS; Hammel, Michal M; Roberts, Victoria A VA; Cooper, Priscilla K PK; Tainer, John A JA

Publication Date: 2008-05-30

Variant appearance in text: XPD: R592P

PubMed Link: 18510924

Variant Present in the following documents:

• Main text

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Nucleotide Excision Repair, Genome Stability, and Human Disease: New Insight from Model Systems.

Journal Of Biomedicine & Biotechnology

Garfinkel, David J. DJ; Bailis, Adam M. AM

Publication Date: 2002

Variant appearance in text: XPD: R592P

PubMed Link: 12488584

Variant Present in the following documents:

• S1110724302201023.pdf

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