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: 254T>G; Leu85Arg

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: L85R

PubMed Link: 36225129

Variant Present in the following documents:

• Main text
• ACEL-21-e13688.pdf

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The nuclear envelope: LINCing tissue mechanics to genome regulation in cardiac and skeletal muscle.

Biology Letters

Piccus, Rachel R; Brayson, Daniel D

Publication Date: 2020-07

Variant appearance in text: LMNA: L85R

PubMed Link: 32634376

Variant Present in the following documents:

• Main text

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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: L85R

PubMed Link: 29764566

Variant Present in the following documents:

• bmb-51-327.pdf

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A Perspective on the Experimental Techniques for Studying Lamins.

Cells

Pecorari, Ilaria I; Borin, Daniele D; Sbaizero, Orfeo O

Publication Date: 2017-10-10

Variant appearance in text: LMNA: L85R

PubMed Link: 28994747

Variant Present in the following documents:

• Main text
• cells-06-00033.pdf

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Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.

Neuromuscular Disorders : Nmd

Le Thanh, Phu P; Meinke, Peter P; Korfali, Nadia N; Srsen, Vlastimil V; Robson, Michael I MI; Wehnert, Manfred M; Schoser, Benedikt B; Sewry, Caroline A CA; Schirmer, Eric C EC

Publication Date: 2017-04

Variant appearance in text: LMNA: L85R

PubMed Link: 28214269

Variant Present in the following documents:

• Main text
• main.pdf

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Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Molecules And Cells

Cho, Kae Won KW; Lee, Jongsung J; Kim, Youngjo Y

Publication Date: 2016-10

Variant appearance in text: LMNA: L85R

PubMed Link: 27802374

Variant Present in the following documents:

• Main text
• molce-39-10-722.pdf

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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: L85R; rs28933090

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.

Bmc Genomics

Cherukuri, Praveen F PF; Maduro, Valerie V; Fuentes-Fajardo, Karin V KV; Lam, Kevin K; , ; Adams, David R DR; Tifft, Cynthia J CJ; Mullikin, James C JC; Gahl, William A WA; Boerkoel, Cornelius F CF

Publication Date: 2015-11-25

Variant appearance in text: LMNA: 254T>G

PubMed Link: 26602380

Variant Present in the following documents:

• 12864_2015_Article_2107.pdf

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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: LMNA: L85R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: Leu85Arg

PubMed Link: 26199943

Variant Present in the following documents:

• BMRI2015-561819.pdf

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Novel insights into the disease etiology of laminopathies.

Rare Diseases (Austin, Tex.)

Ho, Chin Yee CY; Jaalouk, Diana E DE; Lammerding, Jan J

Publication Date: 2013-01-01

Variant appearance in text: LMNA: L85R

PubMed Link: 24860693

Variant Present in the following documents:

• Main text
• rdis-1-e27002.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: L85R

PubMed Link: 23427149

Variant Present in the following documents:

• Main text

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Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo.

Plos One

Boudreau, Émilie É; Labib, Sarah S; Bertrand, Anne T AT; Decostre, Valérie V; Bolongo, Pierrette M PM; Sylvius, Nicolas N; Bonne, Gisèle G; Tesson, Frédérique F

Publication Date: 2012

Variant appearance in text: LMNA: Leu85Arg

PubMed Link: 23029315

Variant Present in the following documents:

• Main text
• pone.0045918.pdf

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Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Circulation. Cardiovascular Genetics

Norton, Nadine N; Robertson, Peggy D PD; Rieder, Mark J MJ; Züchner, Stephan S; Rampersaud, Evadnie E; Martin, Eden E; Li, Duanxiang D; Nickerson, Deborah A DA; Hershberger, Ray E RE; ,

Publication Date: 2012-04-01

Variant appearance in text: LMNA: Leu85Arg

PubMed Link: 22337857

Variant Present in the following documents:

• Main text

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Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.

Acta Pharmacologica Sinica

Boudoulas, Konstantinos Dean KD; Mohler, Peter J PJ

Publication Date: 2011-06

Variant appearance in text: LMNA: L85R

PubMed Link: 21642948

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: L85R

PubMed Link: 21639948

Variant Present in the following documents:

• gb-2011-12-5-222.pdf

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Specific contribution of lamin A and lamin C in the development of laminopathies.

Experimental Cell Research

Sylvius, Nicolas N; Hathaway, Andrea A; Boudreau, Emilie E; Gupta, Pallavi P; Labib, Sarah S; Bolongo, Pierrette M PM; Rippstein, Peter P; McBride, Heidi H; Bilinska, Zofia T ZT; Tesson, Frédérique F

Publication Date: 2008-08-01

Variant appearance in text: LMNA: L85R

PubMed Link: 18538321

Variant Present in the following documents:

• Main text

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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: 254T>G

PubMed Link: 17107595

Variant Present in the following documents:

• Main text

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Stabilization of the retinoblastoma protein by A-type nuclear lamins is required for INK4A-mediated cell cycle arrest.

Molecular And Cellular Biology

Nitta, Ryan T RT; Jameson, Samantha A SA; Kudlow, Brian A BA; Conlan, Lindus A LA; Kennedy, Brian K BK

Publication Date: 2006-07

Variant appearance in text: LMNA: L85R

PubMed Link: 16809772

Variant Present in the following documents:

• Main text

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Altered protein dynamics of disease-associated lamin A mutants.

Bmc Cell Biology

Gilchrist, Susan S; Gilbert, Nick N; Perry, Paul P; Ostlund, Cecilia C; Worman, Howard J HJ; Bickmore, Wendy A WA

Publication Date: 2004-12-13

Variant appearance in text: LMNA: L85R

PubMed Link: 15596010

Variant Present in the following documents:

• 1471-2121-5-46.pdf

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