Publications:

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Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.

Science (New York, N.Y.)

Reichart, Daniel D; Lindberg, Eric L EL; Maatz, Henrike H; Miranda, Antonio M A AMA; Viveiros, Anissa A; Shvetsov, Nikolay N; Gärtner, Anna A; Nadelmann, Emily R ER; Lee, Michael M; Kanemaru, Kazumasa K; Ruiz-Orera, Jorge J; Strohmenger, Viktoria V; DeLaughter, Daniel M DM; Patone, Giannino G; Zhang, Hao H; Woehler, Andrew A; Lippert, Christoph C; Kim, Yuri Y; Adami, Eleonora E; Gorham, Joshua M JM; Barnett, Sam N SN; Brown, Kemar K; Buchan, Rachel J RJ; Chowdhury, Rasheda A RA; Constantinou, Chrystalla C; Cranley, James J; Felkin, Leanne E LE; Fox, Henrik H; Ghauri, Ahla A; Gummert, Jan J; Kanda, Masatoshi M; Li, Ruoyan R; Mach, Lukas L; McDonough, Barbara B; Samari, Sara S; Shahriaran, Farnoush F; Yapp, Clarence C; Stanasiuk, Caroline C; Theotokis, Pantazis I PI; Theis, Fabian J FJ; van den Bogaerdt, Antoon A; Wakimoto, Hiroko H; Ware, James S JS; Worth, Catherine L CL; Barton, Paul J R PJR; Lee, Young-Ae YA; Teichmann, Sarah A SA; Milting, Hendrik H; Noseda, Michela M; Oudit, Gavin Y GY; Heinig, Matthias M; Seidman, Jonathan G JG; Hubner, Norbert N; Seidman, Christine E CE

Publication Date: 2022-08-05

Variant appearance in text: LMNA: 907T>C

PubMed Link: 35926050

Variant Present in the following documents:

• NIHMS1835045-supplement-Supp__table_1.xlsx, sheet 2

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Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Journal Of Medical Genetics

Fan, Yanbin Y; Tan, Dandan D; Song, Danyu D; Zhang, Xu X; Chang, Xingzhi X; Wang, Zhaoxia Z; Zhang, Cheng C; Chan, Sophelia Hoi-Shan SH; Wu, Qixi Q; Wu, Liwen L; Wang, Shuang S; Yan, Hui H; Ge, Lin L; Yang, Haipo H; Mao, Bing B; Bönnemann, Carsten C; Liu, Jingying J; Wang, Suxia S; Yuan, Yun Y; Wu, Xiru X; Zhang, Hong H; Xiong, Hui H

Publication Date: 2021-05

Variant appearance in text: LMNA: 907T>C

PubMed Link: 32571898

Variant Present in the following documents:

• jmedgenet-2019-106671supp001.pdf

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The functional landscape of the human phosphoproteome.

Nature Biotechnology

Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P

Publication Date: 2020-03

Variant appearance in text: LMNA: 907T>C; Ser303Pro

PubMed Link: 31819260

Variant Present in the following documents:

• EMS84831-supplement-Table_S5.xlsx, sheet 1

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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: LGMD1B: S303P

PubMed Link: 29764566

Variant Present in the following documents:

• bmb-51-327.pdf

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Distinct Fiber Type Signature in Mouse Muscles Expressing a Mutant Lamin A Responsible for Congenital Muscular Dystrophy in a Patient.

Cells

Barateau, Alice A; Vadrot, Nathalie N; Agbulut, Onnik O; Vicart, Patrick P; Batonnet-Pichon, Sabrina S; Buendia, Brigitte B

Publication Date: 2017-04-24

Variant appearance in text: LMNA: Ser303Pro

PubMed Link: 28441765

Variant Present in the following documents:

• Main text
• cells-06-00010.pdf

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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: 907T>C; Ser303Pro

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

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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: S303P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Cardioembolic stroke related to limb-girdle muscular dystrophy 1B.

Bmc Research Notes

Chen, Chih-Hao CH; Tang, Sung-Chun SC; Su, Yi-Ning YN; Yang, Chih-Chao CC; Jeng, Jiann-Shing JS

Publication Date: 2013-01-29

Variant appearance in text: LMNA: 907T>C

PubMed Link: 23360689

Variant Present in the following documents:

• Main text
• 1756-0500-6-32.pdf

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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: S303P

PubMed Link: 21639948

Variant Present in the following documents:

• gb-2011-12-5-222.pdf

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Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Astejada, M N MN; Goto, K K; Nagano, A A; Ura, S S; Noguchi, S S; Nonaka, I I; Nishino, I I; Hayashi, Y K YK

Publication Date: 2007-12

Variant appearance in text: LMNA: S303P

PubMed Link: 18646565

Variant Present in the following documents:

• Main text

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