Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: AGXT: I340M

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: AGXT: I340M

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of Human Alanine-Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1.

Journal Of Medicinal Chemistry

Grottelli, Silvia S; Annunziato, Giannamaria G; Pampalone, Gioena G; Pieroni, Marco M; Dindo, Mirco M; Ferlenghi, Francesca F; Costantino, Gabriele G; Cellini, Barbara B

Publication Date: 2022-07-28

Variant appearance in text: AGXT: I340M

PubMed Link: 35830169

Variant Present in the following documents:

• Main text
• jm2c00142.pdf

View BVdb publication page

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Improving Treatment Options for Primary Hyperoxaluria.

Drugs

Hoppe, Bernd B; Martin-Higueras, Cristina C

Publication Date: 2022-07

Variant appearance in text: PH1: I340M

PubMed Link: 35779234

Variant Present in the following documents:

• Main text
• 40265_2022_Article_1735.pdf

View BVdb publication page

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Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

Molecular Genetics & Genomic Medicine

Ahmed, Hoda A HA; Fadel, Fatina I FI; Abdel Mawla, Mohamed A MA; Salah, Doaa M DM; Fathallah, Mohamed Gamal MG; Amr, Khalda K

Publication Date: 2022-08

Variant appearance in text: AGXT: 1020A>G

PubMed Link: 35661454

Variant Present in the following documents:

• Main text
• MGG3-10-e1992.pdf

View BVdb publication page

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: AGXT: I340M; rs4426527

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

View BVdb publication page

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Primary hyperoxaluria type 1: pathophysiology and genetics.

Clinical Kidney Journal

Fargue, Sonia S; Acquaviva Bourdain, Cécile C

Publication Date: 2022-05

Variant appearance in text: AGXT: 1020A>G

PubMed Link: 35592619

Variant Present in the following documents:

• Main text
• sfab217.pdf

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: AGXT: 1020A>G; Ile340Met

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Structural dynamics shape the fitness window of alanine:glyoxylate aminotransferase.

Protein Science : A Publication Of The Protein Society

Dindo, Mirco M; Pascarelli, Stefano S; Chiasserini, Davide D; Grottelli, Silvia S; Costantini, Claudio C; Uechi, Gen-Ichiro GI; Giardina, Giorgio G; Laurino, Paola P; Cellini, Barbara B

Publication Date: 2022-05

Variant appearance in text: AGT1: I340M

PubMed Link: 35481644

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validation of Genetic Markers Associated with Survival in Colorectal Cancer Patients Treated with Oxaliplatin-Based Chemotherapy.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Park, Hanla A HA; Seibold, Petra P; Edelmann, Dominic D; Benner, Axel A; Canzian, Federico F; Alwers, Elizabeth E; Jansen, Lina L; Schneider, Martin M; Hoffmeister, Michael M; Brenner, Hermann H; Chang-Claude, Jenny J

Publication Date: 2022-02

Variant appearance in text: rs4426527

PubMed Link: 34862210

Variant Present in the following documents:

• Main text
• 352.pdf

View BVdb publication page

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Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.

Bmc Medical Genomics

Murad, Hossam H; Alhalabi, Mohamad Baseel MB; Dabboul, Amir A; Alfakseh, Nour N; Nweder, Mohamad Sayah MS; Zghib, Youssef Y; Wannous, Hala H

Publication Date: 2021-06-03

Variant appearance in text: AGXT: I340M; rs4426527

PubMed Link: 34082749

Variant Present in the following documents:

• Main text
• 12920_2021_Article_996.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: AGXT: 1020A>G; Ile340Met; rs4426527

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting.

Journal Of Personalized Medicine

Dindo, Mirco M; Ambrosini, Giulia G; Oppici, Elisa E; Pey, Angel L AL; O'Toole, Peter J PJ; Marrison, Joanne L JL; Morrison, Ian E G IEG; Butturini, Elena E; Grottelli, Silvia S; Costantini, Claudio C; Cellini, Barbara B

Publication Date: 2021-04-06

Variant appearance in text: PH1: Ile340Met

PubMed Link: 33917320

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel mutations in response to vitamin B6 in primary hyperoxaluria type 1 after only kidney transplantation: a case report.

Translational Andrology And Urology

Zhao, Yuanyuan Y; Yang, Yang Y; Zhou, Ping P; Jiang, Jipin J; Chen, Zhishui Z; Du, Dunfeng D

Publication Date: 2020-12

Variant appearance in text: AGXT: I340M

PubMed Link: 33457257

Variant Present in the following documents:

• Main text
• tau-09-06-2848.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: AGXT: I340M; rs4426527

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Effect of alanine supplementation on oxalate synthesis.

Biochimica Et Biophysica Acta. Molecular Basis Of Disease

Wood, Kyle D KD; Freeman, Brian L BL; Killian, Mary E ME; Lai, Win Shun WS; Assimos, Dean D; Knight, John J; Fargue, Sonia S

Publication Date: 2021-01-01

Variant appearance in text: PH1: I340M

PubMed Link: 33002578

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: AGXT: I340M

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Pancytopenia as a Complication of Primary Hyperoxaluria.

Indian Journal Of Nephrology

Khosravi, M M; Kord, S S; Mokhtari, M M

Publication Date: 2019

Variant appearance in text: AGXT: Ile340Met

PubMed Link: 31142973

Variant Present in the following documents:

• Main text

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: AGXT: I340M; rs4426527

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: AGXT: 1020A>G; rs4426527

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation.

Frontiers In Pharmacology

Lu, Xiulan X; Chen, Weijian W; Li, Liping L; Zhu, Xinyuan X; Huang, Caizhi C; Liu, Saijun S; Yang, Yongjia Y; Zhao, Yaowang Y

Publication Date: 2019

Variant appearance in text: AGXT: Ile340Met; rs4426527

PubMed Link: 30787879

Variant Present in the following documents:

• Main text
• fphar-10-00085.pdf

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: AGXT: I340M

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Evolutionary Divergent Suppressor Mutations in Conformational Diseases.

Genes

Mesa-Torres, Noel N; Betancor-Fernández, Isabel I; Oppici, Elisa E; Cellini, Barbara B; Salido, Eduardo E; Pey, Angel L AL

Publication Date: 2018-07-13

Variant appearance in text: AGXT: I340M

PubMed Link: 30011855

Variant Present in the following documents:

• Main text
• genes-09-00352.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: AGXT: 1020A>G; I340M; rs4426527

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.

Bmc Nephrology

Kanoun, Houda H; Jarraya, Faiçal F; Maalej, Bayen B; Lahiani, Amina A; Mahfoudh, Hichem H; Makni, Fatma F; Hachicha, Jamil J; Fakhfakh, Faiza F

Publication Date: 2017-10-02

Variant appearance in text: PH1: Ile340Met

PubMed Link: 28969594

Variant Present in the following documents:

• Main text
• 12882_2017_Article_719.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs4426527

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: AGXT: 1020A>G; Ile340Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.

Scientific Reports

Wang, Cui C; Lu, Jingru J; Lang, Yanhua Y; Liu, Ting T; Wang, Xiaoling X; Zhao, Xiangzhong X; Shao, Leping L

Publication Date: 2016-09-20

Variant appearance in text: AGXT: 1020A>G; I340M; rs4426527

PubMed Link: 27644547

Variant Present in the following documents:

• Main text
• srep33652.pdf
• srep33652-s1.pdf

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: AGXT: I340M

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.

Biochimica Et Biophysica Acta

Fargue, Sonia S; Knight, John J; Holmes, Ross P RP; Rumsby, Gill G; Danpure, Christopher J CJ

Publication Date: 2016-06

Variant appearance in text: PH1: I340M

PubMed Link: 26854734

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs4426527

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: AGXT: I340M

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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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: AGXT: I340M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: AGXT: I340M; rs4426527

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Molecular recognition of PTS-1 cargo proteins by Pex5p: implications for protein mistargeting in primary hyperoxaluria.

Biomolecules

Mesa-Torres, Noel N; Tomic, Nenad N; Albert, Armando A; Salido, Eduardo E; Pey, Angel L AL

Publication Date: 2015-02-13

Variant appearance in text: PH1: I340M

PubMed Link: 25689234

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

Journal Of The American Society Of Nephrology : Jasn

Hopp, Katharina K; Cogal, Andrea G AG; Bergstralh, Eric J EJ; Seide, Barbara M BM; Olson, Julie B JB; Meek, Alicia M AM; Lieske, John C JC; Milliner, Dawn S DS; Harris, Peter C PC; ,

Publication Date: 2015-10

Variant appearance in text: AGXT: I340M

PubMed Link: 25644115

Variant Present in the following documents:

• Main text

View BVdb publication page

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Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Molecular Genetics & Genomic Medicine

Williams, Emma L EL; Bagg, Eleanor A L EA; Mueller, Michael M; Vandrovcova, Jana J; Aitman, Timothy J TJ; Rumsby, Gill G

Publication Date: 2015-01

Variant appearance in text: PH1: 1020A>G

PubMed Link: 25629080

Variant Present in the following documents:

• Main text
• mgg30003-0069.pdf

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: AGXT: I340M; rs4426527

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.

Human Molecular Genetics

Montioli, Riccardo R; Roncador, Alessandro A; Oppici, Elisa E; Mandrile, Giorgia G; Giachino, Daniela Francesca DF; Cellini, Barbara B; Borri Voltattorni, Carla C

Publication Date: 2014-11-15

Variant appearance in text: AGXT: I340M

PubMed Link: 24990153

Variant Present in the following documents:

• Main text

View BVdb publication page

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Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

Plos One

Lage, Melissa D MD; Pittman, Adrianne M C AM; Roncador, Alessandro A; Cellini, Barbara B; Tucker, Chandra L CL

Publication Date: 2014

Variant appearance in text: PH1: Ile340Met

PubMed Link: 24718375

Variant Present in the following documents:

• Main text
• pone.0094338.pdf

View BVdb publication page

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The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.

Plos One

Mesa-Torres, Noel N; Fabelo-Rosa, Israel I; Riverol, Debora D; Yunta, Cristina C; Albert, Armando A; Salido, Eduardo E; Pey, Angel L AL

Publication Date: 2013

Variant appearance in text: PH1: I340M

PubMed Link: 24205397

Variant Present in the following documents:

• Main text
• pone.0071963.pdf

View BVdb publication page

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Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.

Biomed Research International

Pey, Angel L AL; Albert, Armando A; Salido, Eduardo E

Publication Date: 2013

Variant appearance in text: PH1: I340M

PubMed Link: 23956997

Variant Present in the following documents:

• Main text

View BVdb publication page

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Crystal structure of the S187F variant of human liver alanine: glyoxylate [corrected] aminotransferase associated with primary hyperoxaluria type I and its functional implications.

Proteins

Oppici, Elisa E; Fodor, Krisztian K; Paiardini, Alessandro A; Williams, Chris C; Voltattorni, Carla Borri CB; Wilmanns, Matthias M; Cellini, Barbara B

Publication Date: 2013-08

Variant appearance in text: AGXT: I340M

PubMed Link: 23589421

Variant Present in the following documents:

• Main text
• prot0081-1457.pdf

View BVdb publication page

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Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.

The Journal Of Biological Chemistry

Fargue, Sonia S; Lewin, Jackie J; Rumsby, Gill G; Danpure, Christopher J CJ

Publication Date: 2013-01-25

Variant appearance in text: PH1: I340M

PubMed Link: 23229545

Variant Present in the following documents:

• Main text

View BVdb publication page

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A prospective validation pharmacogenomic study in the adjuvant setting of colorectal cancer patients treated with the 5-fluorouracil/leucovorin/oxaliplatin (FOLFOX4) regimen.

The Pharmacogenomics Journal

Cecchin, E E; D'Andrea, M M; Lonardi, S S; Zanusso, C C; Pella, N N; Errante, D D; De Mattia, E E; Polesel, J J; Innocenti, F F; Toffoli, G G

Publication Date: 2013-10

Variant appearance in text: rs4426527

PubMed Link: 22868256

Variant Present in the following documents:

• Main text

View BVdb publication page

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