Publications:

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A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient.

Frontiers In Cardiovascular Medicine

Yuan, Zhuang-Zhuang ZZ; Fan, Liang-Liang LL; Jiang, Zi-Chen ZC; Yang, Yi-Feng YF; Tan, Zhi-Ping ZP

Publication Date: 2020

Variant appearance in text: MMP21: 163C>T; Arg55Trp

PubMed Link: 33240936

Variant Present in the following documents:

• Main text
• fcvm-07-582350.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: MMP21: R55W; rs61753106

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Cell Reports

Roper, Nitin N; Gao, Shaojian S; Maity, Tapan K TK; Banday, A Rouf AR; Zhang, Xu X; Venugopalan, Abhilash A; Cultraro, Constance M CM; Patidar, Rajesh R; Sindiri, Sivasish S; Brown, Anna-Leigh AL; Goncearenco, Alexander A; Panchenko, Anna R AR; Biswas, Romi R; Thomas, Anish A; Rajan, Arun A; Carter, Corey A CA; Kleiner, David E DE; Hewitt, Stephen M SM; Khan, Javed J; Prokunina-Olsson, Ludmila L; Guha, Udayan U

Publication Date: 2019-03-05

Variant appearance in text: MMP21: R55W; rs61753106

PubMed Link: 30840888

Variant Present in the following documents:

• NIHMS1523294-supplement-6.xlsx, sheet 5

View BVdb publication page

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Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications

Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M

Publication Date: 2018-02-15

Variant appearance in text: MMP21: R55W; rs61753106

PubMed Link: 29449575

Variant Present in the following documents:

• 41467_2017_2688_MOESM14_ESM.xls, sheet 3

View BVdb publication page

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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Nature Genetics

Guimier, Anne A; Gabriel, George C GC; Bajolle, Fanny F; Tsang, Michael M; Liu, Hui H; Noll, Aaron A; Schwartz, Molly M; El Malti, Rajae R; Smith, Laurie D LD; Klena, Nikolai T NT; Jimenez, Gina G; Miller, Neil A NA; Oufadem, Myriam M; Moreau de Bellaing, Anne A; Yagi, Hisato H; Saunders, Carol J CJ; Baker, Candice N CN; Di Filippo, Sylvie S; Peterson, Kevin A KA; Thiffault, Isabelle I; Bole-Feysot, Christine C; Cooley, Linda D LD; Farrow, Emily G EG; Masson, Cécile C; Schoen, Patric P; Deleuze, Jean-François JF; Nitschké, Patrick P; Lyonnet, Stanislas S; de Pontual, Loic L; Murray, Stephen A SA; Bonnet, Damien D; Kingsmore, Stephen F SF; Amiel, Jeanne J; Bouvagnet, Patrice P; Lo, Cecilia W CW; Gordon, Christopher T CT

Publication Date: 2015-11

Variant appearance in text: rs61753106

PubMed Link: 26437028

Variant Present in the following documents:

• NIHMS707556-supplement-4.xlsx, sheet 1

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: MMP21: R55W; rs61753106

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: MMP21: R55W; rs61753106

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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