Publications:

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Overview of cellular homeostasis-associated nuclear envelope lamins and associated input signals.

Frontiers In Cell And Developmental Biology

Kim, Hyeong Jae HJ; Lee, Peter C W PCW; Hong, Jeong Hee JH

Publication Date: 2023

Variant appearance in text: LMNA: R401C

PubMed Link: 37250905

Variant Present in the following documents:

• Main text

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: LMNA: 1201C>T; Arg401Cys

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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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: LMNA: R401C; rs61094188

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
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12

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Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Frontiers In Pediatrics

Baban, Anwar A; Cicenia, Marianna M; Magliozzi, Monia M; Gnazzo, Maria M; Cantarutti, Nicoletta N; Silvetti, Massimo Stefano MS; Adorisio, Rachele R; Dallapiccola, Bruno B; Bertini, Enrico E; Novelli, Antonio A; Drago, Fabrizio F

Publication Date: 2020

Variant appearance in text: LMNA: 1201C>T; Arg401Cys

PubMed Link: 32793522

Variant Present in the following documents:

• Main text
• fped-08-00374.pdf

View BVdb publication page

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PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation.

Cells

Santi, Spartaco S; Cenni, Vittoria V; Capanni, Cristina C; Lattanzi, Giovanna G; Mattioli, Elisabetta E

Publication Date: 2020-07-20

Variant appearance in text: LMNA: R401C

PubMed Link: 32698523

Variant Present in the following documents:

• Main text
• cells-09-01735.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LMNA: 1201C>T; Arg401Cys

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: LMNA: 1201C>T; R401C

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 6

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: LMNA: 1201C>T; R401C

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: LMNA: 1201C>T; R401C

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies.

Oxidative Medicine And Cellular Longevity

Cenni, Vittoria V; Kojic, Snezana S; Capanni, Cristina C; Faulkner, Georgine G; Lattanzi, Giovanna G

Publication Date: 2019

Variant appearance in text: LMNA: Arg401Cys

PubMed Link: 31428229

Variant Present in the following documents:

• Main text
• OMCL2019-7318796.pdf

View BVdb publication page

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Lamin A molecular compression and sliding as mechanisms behind nucleoskeleton elasticity.

Nature Communications

Makarov, Alex A AA; Zou, Juan J; Houston, Douglas R DR; Spanos, Christos C; Solovyova, Alexandra S AS; Cardenal-Peralta, Cristina C; Rappsilber, Juri J; Schirmer, Eric C EC

Publication Date: 2019-07-11

Variant appearance in text: LGMD1B: R401C

PubMed Link: 31296869

Variant Present in the following documents:

• Main text
• 41467_2019_Article_11063.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LMNA: R401C; rs61094188

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

European Journal Of Human Genetics : Ejhg

van Tienen, Florence H J FHJ; Lindsey, Patrick J PJ; Kamps, Miriam A F MAF; Krapels, Ingrid P IP; Ramaekers, Frans C S FCS; Brunner, Han G HG; van den Wijngaard, Arthur A; Broers, Jos L V JLV

Publication Date: 2019-03

Variant appearance in text: LMNA: 1201C>T; Arg401Cys

PubMed Link: 30420677

Variant Present in the following documents:

• Main text

View BVdb publication page

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Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.

Open Heart

Captur, Gabriella G; Arbustini, Eloisa E; Syrris, Petros P; Radenkovic, Dina D; O'Brien, Ben B; Mckenna, William J WJ; Moon, James C JC

Publication Date: 2018

Variant appearance in text: rs61094188

PubMed Link: 30402260

Variant Present in the following documents:

• openhrt-2018-000915supp002.xlsx, sheet 1

View BVdb publication page

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Laminopathies; Mutations on single gene and various human genetic diseases.

Bmb Reports

Kang, So-Mi SM; Yoon, Min-Ho MH; Park, Bum-Joon BJ

Publication Date: 2018-07

Variant appearance in text: LMNA: R401C

PubMed Link: 29764566

Variant Present in the following documents:

• bmb-51-327.pdf

View BVdb publication page

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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: LMNA: 1201C>T; Arg401Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.

Human Molecular Genetics

Zhou, Can C; Li, Chen C; Zhou, Bin B; Sun, Huaqin H; Koullourou, Victoria V; Holt, Ian I; Puckelwartz, Megan J MJ; Warren, Derek T DT; Hayward, Robert R; Lin, Ziyuan Z; Zhang, Lin L; Morris, Glenn E GE; McNally, Elizabeth M EM; Shackleton, Sue S; Rao, Li L; Shanahan, Catherine M CM; Zhang, Qiuping Q

Publication Date: 2017-06-15

Variant appearance in text: LMNA: R401C

PubMed Link: 28398466

Variant Present in the following documents:

• Main text
• ddx116.pdf

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: LMNA: 1201C>T; Arg401Cys

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 4

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: LMNA: R401C

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: LMNA: R401C

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: LMNA: R401C

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.

Plos Genetics

Meinke, Peter P; Mattioli, Elisabetta E; Haque, Farhana F; Antoku, Susumu S; Columbaro, Marta M; Straatman, Kees R KR; Worman, Howard J HJ; Gundersen, Gregg G GG; Lattanzi, Giovanna G; Wehnert, Manfred M; Shackleton, Sue S

Publication Date: 2014-09

Variant appearance in text: LMNA: R401C

PubMed Link: 25210889

Variant Present in the following documents:

• Main text
• pgen.1004605.pdf

View BVdb publication page

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Systematic identification of pathological lamin A interactors.

Molecular Biology Of The Cell

Dittmer, Travis A TA; Sahni, Nidhi N; Kubben, Nard N; Hill, David E DE; Vidal, Marc M; Burgess, Rebecca C RC; Roukos, Vassilis V; Misteli, Tom T

Publication Date: 2014-05

Variant appearance in text: CMD1A: Arg401Cys

PubMed Link: 24623722

Variant Present in the following documents:

• Main text
• 1493.pdf

View BVdb publication page

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Mutations in LMNA modulate the lamin A--Nesprin-2 interaction and cause LINC complex alterations.

Plos One

Yang, Liu L; Munck, Martina M; Swaminathan, Karthic K; Kapinos, Larisa E LE; Noegel, Angelika A AA; Neumann, Sascha S

Publication Date: 2013

Variant appearance in text: LMNA: R401C

PubMed Link: 23977161

Variant Present in the following documents:

• Main text
• pone.0071850.pdf

View BVdb publication page

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The lamin protein family.

Genome Biology

Dittmer, Travis A TA; Misteli, Tom T

Publication Date: 2011

Variant appearance in text: LMNA: R401C

PubMed Link: 21639948

Variant Present in the following documents:

• gb-2011-12-5-222.pdf

View BVdb publication page

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Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).

Brain Pathology (Zurich, Switzerland)

Mittelbronn, Michel M; Hanisch, Frank F; Gleichmann, Marc M; Stötter, Mechthild M; Korinthenberg, Rudolf R; Wehnert, Manfred M; Bonne, Gisèle G; Rudnik-Schöneborn, Sabine S; Bornemann, Antje A

Publication Date: 2006-10

Variant appearance in text: LMNA: 1201C>T; R401C

PubMed Link: 17107595

Variant Present in the following documents:

• Main text

View BVdb publication page

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