Publications:

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Correlation of changes in subclonal architecture with progression in the MMRF CoMMpass study.

Translational Oncology

Kaur, Gurvinder G; Jena, Lingaraja L; Gupta, Ritu R; Farswan, Akanksha A; Gupta, Anubha A; Sriram, K K

Publication Date: 2022-06-28

Variant appearance in text: CBS: 1265C>T; Pro422Leu

PubMed Link: 35777247

Variant Present in the following documents:

• mmc5.xls, sheet 3

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Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine

Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT

Publication Date: 2022-06-03

Variant appearance in text: CBS: 1265C>T; Pro422Leu; rs28934892

PubMed Link: 35655252

Variant Present in the following documents:

• 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: CBS: 1265C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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The Spectrum of Mutations of Homocystinuria in the MENA Region.

Genes

Al-Sadeq, Duaa W DW; Nasrallah, Gheyath K GK

Publication Date: 2020-03-20

Variant appearance in text: CBS: P422L

PubMed Link: 32245022

Variant Present in the following documents:

• Main text
• genes-11-00330.pdf

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Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.

Human Mutation

Kasak, Laura L; Bakolitsa, Constantina C; Hu, Zhiqiang Z; Yu, Changhua C; Rine, Jasper J; Dimster-Denk, Dago F DF; Pandey, Gaurav G; De Baets, Greet G; Bromberg, Yana Y; Cao, Chen C; Capriotti, Emidio E; Casadio, Rita R; Van Durme, Joost J; Giollo, Manuel M; Karchin, Rachel R; Katsonis, Panagiotis P; Leonardi, Emanuela E; Lichtarge, Olivier O; Martelli, Pier Luigi PL; Masica, David D; Mooney, Sean D SD; Olatubosun, Ayodeji A; Radivojac, Predrag P; Rousseau, Frederic F; Pal, Lipika R LR; Savojardo, Castrense C; Schymkowitz, Joost J; Thusberg, Janita J; Tosatto, Silvio C E SCE; Vihinen, Mauno M; Väliaho, Jouni J; Repo, Susanna S; Moult, John J; Brenner, Steven E SE; Friedberg, Iddo I

Publication Date: 2019-09

Variant appearance in text: CBS: 1265C>T; P422L

PubMed Link: 31301157

Variant Present in the following documents:

• Main text

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Chemical Biology of H2S Signaling through Persulfidation.

Chemical Reviews

Filipovic, Milos R MR; Zivanovic, Jasmina J; Alvarez, Beatriz B; Banerjee, Ruma R

Publication Date: 2018-02-14

Variant appearance in text: CBS: P422L

PubMed Link: 29112440

Variant Present in the following documents:

• Main text

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: CBS: P422L

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

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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: CBS: P422L; rs28934892

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: CBS: P422L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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The role of surface electrostatics on the stability, function and regulation of human cystathionine β-synthase, a complex multidomain and oligomeric protein.

Biochimica Et Biophysica Acta

Pey, Angel L AL; Majtan, Tomas T; Kraus, Jan P JP

Publication Date: 2014-09

Variant appearance in text: CBS: P422L

PubMed Link: 24780582

Variant Present in the following documents:

• Main text

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Conformational properties of nine purified cystathionine β-synthase mutants.

Biochemistry

Hnízda, Aleš A; Majtan, Tomas T; Liu, Lu L; Pey, Angel L AL; Carpenter, John F JF; Kodíček, Milan M; Kožich, Viktor V; Kraus, Jan P JP

Publication Date: 2012-06-12

Variant appearance in text: CBS: P422L

PubMed Link: 22612060

Variant Present in the following documents:

• Main text

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Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.

Journal Of Inherited Metabolic Disease

Hnízda, Aleš A; Jurga, Vojtěch V; Raková, Kateřina K; Kožich, Viktor V

Publication Date: 2012-05

Variant appearance in text: CBS: P422L

PubMed Link: 22069143

Variant Present in the following documents:

• Main text
• 10545_2011_Article_9407.pdf

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Structural basis for substrate activation and regulation by cystathionine beta-synthase (CBS) domains in cystathionine {beta}-synthase.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Koutmos, Markos M; Kabil, Omer O; Smith, Janet L JL; Banerjee, Ruma R

Publication Date: 2010-12-07

Variant appearance in text: CBS: P422L

PubMed Link: 21081698

Variant Present in the following documents:

• Main text

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Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

Human Mutation

Kozich, Viktor V; Sokolová, Jitka J; Klatovská, Veronika V; Krijt, Jakub J; Janosík, Miroslav M; Jelínek, Karel K; Kraus, Jan P JP

Publication Date: 2010-07

Variant appearance in text: CBS: 1265C>T; P422L

PubMed Link: 20506325

Variant Present in the following documents:

• Main text

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Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.

Journal Of Inherited Metabolic Disease

Kopecká, Jana J; Krijt, Jakub J; Raková, Kateřina K; Kožich, Viktor V

Publication Date: 2011-02

Variant appearance in text: CBS: 1265C>T; P422L

PubMed Link: 20490928

Variant Present in the following documents:

• Main text

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Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.

The Journal Of Biological Chemistry

Majtan, Tomas T; Liu, Lu L; Carpenter, John F JF; Kraus, Jan P JP

Publication Date: 2010-05-21

Variant appearance in text: CBS: 1265C>T; P422L

PubMed Link: 20308073

Variant Present in the following documents:

• Main text

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Edgetic perturbation models of human inherited disorders.

Molecular Systems Biology

Zhong, Quan Q; Simonis, Nicolas N; Li, Qian-Ru QR; Charloteaux, Benoit B; Heuze, Fabien F; Klitgord, Niels N; Tam, Stanley S; Yu, Haiyuan H; Venkatesan, Kavitha K; Mou, Danny D; Swearingen, Venus V; Yildirim, Muhammed A MA; Yan, Han H; Dricot, Amélie A; Szeto, David D; Lin, Chenwei C; Hao, Tong T; Fan, Changyu C; Milstein, Stuart S; Dupuy, Denis D; Brasseur, Robert R; Hill, David E DE; Cusick, Michael E ME; Vidal, Marc M

Publication Date: 2009

Variant appearance in text: CBS: P422L

PubMed Link: 19888216

Variant Present in the following documents:

• msb200980.pdf
• msb200980-s1.pdf

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