Publications:

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The Molecular and Cellular Basis of Hutchinson-Gilford Progeria Syndrome and Potential Treatments.

Genes

Batista, Noelle J NJ; Desai, Sanket G SG; Perez, Alexis M AM; Finkelstein, Alexa A; Radigan, Rachel R; Singh, Manrose M; Landman, Aaron A; Drittel, Brian B; Abramov, Daniella D; Ahsan, Mina M; Cornwell, Samantha S; Zhang, Dong D

Publication Date: 2023-02-27

Variant appearance in text: LMNA: H222Y

PubMed Link: 36980874

Variant Present in the following documents:

• genes-14-00602.pdf

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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: 664C>T; His222Tyr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence.

Cells

Varlet, Alice-Anaïs AA; Desgrouas, Camille C; Jebane, Cécile C; Bonello-Palot, Nathalie N; Bourgeois, Patrice P; Levy, Nicolas N; Helfer, Emmanuèle E; Dubois, Noémie N; Valero, René R; Badens, Catherine C; Beliard, Sophie S

Publication Date: 2021-12-24

Variant appearance in text: LMNA: His222Tyr

PubMed Link: 35011612

Variant Present in the following documents:

• Main text
• cells-11-00050.pdf

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A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence.

Cells

Varlet, Alice-Anaïs AA; Desgrouas, Camille C; Jebane, Cécile C; Bonello-Palot, Nathalie N; Bourgeois, Patrice P; Levy, Nicolas N; Helfer, Emmanuèle E; Dubois, Noémie N; Valero, René R; Badens, Catherine C; Beliard, Sophie S

Publication Date: 2021-12-24

Variant appearance in text: LMNA: His222Tyr

PubMed Link: 35011612

Variant Present in the following documents:

• Main text
• cells-11-00050.pdf

View BVdb publication page

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Cellular and Animal Models of Striated Muscle Laminopathies.

Cells

Nicolas, Hannah A HA; Akimenko, Marie-Andrée MA; Tesson, Frédérique F

Publication Date: 2019-03-29

Variant appearance in text: LMNA: H222Y

PubMed Link: 30934932

Variant Present in the following documents:

• Main text

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: LMNA: 664C>T; His222Tyr; rs28928901

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

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: H222Y; rs28928901

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.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: LMNA: H222Y

PubMed Link: 29764566

Variant Present in the following documents:

• bmb-51-327.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: 664C>T; His222Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: H222Y

PubMed Link: 27802374

Variant Present in the following documents:

• Main text
• molce-39-10-722.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: 664C>T; His222Tyr

PubMed Link: 27697855

Variant Present in the following documents:

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

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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: CMD1A: H222Y; rs28928901

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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LMNA cardiomyopathy: cell biology and genetics meet clinical medicine.

Disease Models & Mechanisms

Lu, Jonathan T JT; Muchir, Antoine A; Nagy, Peter L PL; Worman, Howard J HJ

Publication Date: 2011-09

Variant appearance in text: LMNA: H222Y

PubMed Link: 21810905

Variant Present in the following documents:

• Main text

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: H222Y

PubMed Link: 21639948

Variant Present in the following documents:

• gb-2011-12-5-222.pdf

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The nuclear envelopathies and human diseases.

Journal Of Biomedical Science

Chi, Ya-Hui YH; Chen, Zi-Jie ZJ; Jeang, Kuan-Teh KT

Publication Date: 2009-10-22

Variant appearance in text: LMNA: H222Y

PubMed Link: 19849840

Variant Present in the following documents:

• Main text
• 1423-0127-16-96.pdf

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

American Journal Of Human Genetics

Novelli, Giuseppe G; Muchir, Antoine A; Sangiuolo, Federica F; Helbling-Leclerc, Anne A; D'Apice, Maria Rosaria MR; Massart, Catherine C; Capon, Francesca F; Sbraccia, Paolo P; Federici, Massimo M; Lauro, Renato R; Tudisco, Cosimo C; Pallotta, Rosanna R; Scarano, Gioacchino G; Dallapiccola, Bruno B; Merlini, Luciano L; Bonne, Gisèle G

Publication Date: 2002-08

Variant appearance in text: LMNA: H222Y

PubMed Link: 12075506

Variant Present in the following documents:

• Main text

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

American Journal Of Human Genetics

De Sandre-Giovannoli, Annachiara A; Chaouch, Malika M; Kozlov, Serguei S; Vallat, Jean-Michel JM; Tazir, Meriem M; Kassouri, Nadia N; Szepetowski, Pierre P; Hammadouche, Tarik T; Vandenberghe, Antoon A; Stewart, Colin L CL; Grid, Djamel D; Lévy, Nicolas N

Publication Date: 2002-03

Variant appearance in text: LMNA: H222Y

PubMed Link: 11799477

Variant Present in the following documents:

• Main text

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Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

American Journal Of Human Genetics

Raffaele Di Barletta, M M; Ricci, E E; Galluzzi, G G; Tonali, P P; Mora, M M; Morandi, L L; Romorini, A A; Voit, T T; Orstavik, K H KH; Merlini, L L; Trevisan, C C; Biancalana, V V; Housmanowa-Petrusewicz, I I; Bione, S S; Ricotti, R R; Schwartz, K K; Bonne, G G; Toniolo, D D

Publication Date: 2000-04

Variant appearance in text: LMNA: H222Y

PubMed Link: 10739764

Variant Present in the following documents:

• Main text

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