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: LMNA: 608A>G; Glu203Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.

Aging Cell

Ghosh, Debasish Kumar DK; Pande, Shruti S; Kumar, Jeevan J; Yesodharan, Dhanya D; Nampoothiri, Sheela S; Radhakrishnan, Periyasamy P; Reddy, Chilakala Gangi CG; Ranjan, Akash A; Girisha, Katta M KM

Publication Date: 2022-11

Variant appearance in text: LMNA: E203G

PubMed Link: 36225129

Variant Present in the following documents:

• Main text
• ACEL-21-e13688.pdf

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Pregnancy and Progression of Cardiomyopathy in Women With LMNA Genotype-Positive.

Journal Of The American Heart Association

Castrini, Anna I AI; Skjølsvik, Eystein E; Estensen, Mette E ME; Almaas, Vibeke M VM; Skulstad, Helge H; Lyseggen, Erik E; Edvardsen, Thor T; Lie, Øyvind H ØH; Picard, Kermshlise C I KCI; Lakdawala, Neal K NK; Haugaa, Kristina H KH

Publication Date: 2022-04-19

Variant appearance in text: LMNA: 608A>G; E203G

PubMed Link: 35434999

Variant Present in the following documents:

• JAH3-11-e024960.pdf

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: LMNA: 608A>G; Glu203Gly

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine

Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL

Publication Date: 2021-12-03

Variant appearance in text: LMNA: E203G

PubMed Link: 34862408

Variant Present in the following documents:

• Main text
• 41525_2021_Article_265.pdf

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Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Npj Genomic Medicine

Anderson, Corey L CL; Langer, Emma R ER; Routes, Timothy C TC; McWilliams, Seamus F SF; Bereslavskyy, Igor I; Kamp, Timothy J TJ; Eckhardt, Lee L LL

Publication Date: 2021-12-03

Variant appearance in text: LMNA: E203G

PubMed Link: 34862408

Variant Present in the following documents:

• Main text
• 41525_2021_Article_265.pdf

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Diversity of Nuclear Lamin A/C Action as a Key to Tissue-Specific Regulation of Cellular Identity in Health and Disease.

Frontiers In Cell And Developmental Biology

Malashicheva, Anna A; Perepelina, Kseniya K

Publication Date: 2021

Variant appearance in text: LMNA: E203G

PubMed Link: 34722546

Variant Present in the following documents:

• Main text
• fcell-09-761469.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LMNA: 608A>G; Glu203Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Targeted Regulation of Nuclear Lamins by Ubiquitin and Ubiquitin-Like Modifiers.

Cells

Blank, Michael M

Publication Date: 2020-05-27

Variant appearance in text: LMNA: E203G

PubMed Link: 32471220

Variant Present in the following documents:

• Main text
• cells-09-01340.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: LMNA: 608A>G; Glu203Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Hutchinson-Gilford Progeria Syndrome: A premature aging disease caused by LMNA gene mutations.

Ageing Research Reviews

Gonzalo, Susana S; Kreienkamp, Ray R; Askjaer, Peter P

Publication Date: 2017-01

Variant appearance in text: LMNA: E203G

PubMed Link: 27374873

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: LMNA: E203G

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

Biomed Research International

Zhao, Yue Y; Feng, Yue Y; Zhang, Yun-Mei YM; Ding, Xiao-Xue XX; Song, Yu-Zhu YZ; Zhang, A-Mei AM; Liu, Li L; Zhang, Hong H; Ding, Jia-Huan JH; Xia, Xue-Shan XS

Publication Date: 2015

Variant appearance in text: LMNA: Glu203Gly

PubMed Link: 26199943

Variant Present in the following documents:

• BMRI2015-561819.pdf

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Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

Human Molecular Genetics

Zwerger, Monika M; Jaalouk, Diana E DE; Lombardi, Maria L ML; Isermann, Philipp P; Mauermann, Monika M; Dialynas, George G; Herrmann, Harald H; Wallrath, Lori L LL; Lammerding, Jan J

Publication Date: 2013-06-15

Variant appearance in text: LMNA: E203G

PubMed Link: 23427149

Variant Present in the following documents:

• Main text

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Return of genetic results in the familial dilated cardiomyopathy research project.

Journal Of Genetic Counseling

Siegfried, Jill D JD; Morales, Ana A; Kushner, Jessica D JD; Burkett, Emily E; Cowan, Jason J; Mauro, Ana Clara AC; Huggins, Gordon S GS; Li, Duanxiang D; Norton, Nadine N; Hershberger, Ray E RE

Publication Date: 2013-04

Variant appearance in text: LMNA: E203G

PubMed Link: 22886719

Variant Present in the following documents:

• Main text

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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: E203G

PubMed Link: 21639948

Variant Present in the following documents:

• Main text
• gb-2011-12-5-222.pdf

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Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

The Journal Of Biological Chemistry

Haque, Farhana F; Mazzeo, Daniela D; Patel, Jennifer T JT; Smallwood, Dawn T DT; Ellis, Juliet A JA; Shanahan, Catherine M CM; Shackleton, Sue S

Publication Date: 2010-01-29

Variant appearance in text: LMNA: E203G

PubMed Link: 19933576

Variant Present in the following documents:

• Main text
• zbc3487.pdf

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Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

American Heart Journal

Parks, Sharie B SB; Kushner, Jessica D JD; Nauman, Deirdre D; Burgess, Donna D; Ludwigsen, Susan S; Peterson, Amanda A; Li, Duanxiang D; Jakobs, Petra P; Litt, Michael M; Porter, Charles B CB; Rahko, Peter S PS; Hershberger, Ray E RE

Publication Date: 2008-07

Variant appearance in text: LMNA: Glu203Gly

PubMed Link: 18585512

Variant Present in the following documents:

• Main text

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