Publications:

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Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.

Children (Basel, Switzerland)

Mastrangelo, Mario M; Gasparri, Valentina V; Bernardi, Katerina K; Foglietta, Silvia S; Ramantani, Georgia G; Pisani, Francesco F

Publication Date: 2023-03-15

Variant appearance in text: PNPO: Arg116gln

PubMed Link: 36980111

Variant Present in the following documents:

• children-10-00553.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs17679445

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: PNPO: R116Q; rs17679445

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.

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

Chi, Wanhao W; Iyengar, Atulya S R ASR; Fu, Wenqin W; Liu, Wei W; Berg, Abigayle E AE; Wu, Chun-Fang CF; Zhuang, Xiaoxi X

Publication Date: 2022-03-01

Variant appearance in text: PNPO: 347G>A; R116Q

PubMed Link: 35217610

Variant Present in the following documents:

• pnas.2115524119.sapp.pdf

View BVdb publication page

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SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications

Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X

Publication Date: 2022-02-08

Variant appearance in text: PNPO: R116Q

PubMed Link: 35136070

Variant Present in the following documents:

• 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Prognostic Implication and Oncogenic Role of PNPO in Pan-Cancer.

Frontiers In Cell And Developmental Biology

Zhang, Lingyun L; Li, Xin X; Zhang, Jinguo J; Xu, Guoxiong G

Publication Date: 2021

Variant appearance in text: PNPO: Arg116gln

PubMed Link: 35127701

Variant Present in the following documents:

• fcell-09-763674.pdf

View BVdb publication page

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Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.

International Journal Of Molecular Sciences

Barile, Anna A; Mills, Philippa P; di Salvo, Martino L ML; Graziani, Claudio C; Bunik, Victoria V; Clayton, Peter P; Contestabile, Roberto R; Tramonti, Angela A

Publication Date: 2021-11-06

Variant appearance in text: PNPO: Arg116gln

PubMed Link: 34769443

Variant Present in the following documents:

• Main text
• ijms-22-12013.pdf

View BVdb publication page

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West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature.

Frontiers In Pediatrics

Gibaud, Marc M; Barth, Magalie M; Lefranc, Jérémie J; Mention, Karine K; Villeneuve, Nathalie N; Schiff, Manuel M; Maurey, Hélène H; Barthez, Marie-Anne MA; Caubel, Isabelle I; Chouchane, Mondher M; Doummar, Diane D; Kossorotoff, Manoëlle M; Lamblin, Marie-Dominique MD; Roubertie, Agathe A; Nabbout, Rima R; Van Bogaert, Patrick P

Publication Date: 2021

Variant appearance in text: PNPO: R116Q

PubMed Link: 33748042

Variant Present in the following documents:

• Main text
• fped-09-621200.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: PNPO: 347G>A; R116Q; rs17679445

PubMed Link: 33420045

Variant Present in the following documents:

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

View BVdb publication page

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Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Cell

Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,

Publication Date: 2020-11-25

Variant appearance in text: PNPO: R116Q

PubMed Link: 33212010

Variant Present in the following documents:

• NIHMS1687926-supplement-Supplemental_Table_3.xlsx, sheet 5

View BVdb publication page

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Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.

Clinical Genetics

Alghamdi, Malak M; Bashiri, Fahad A FA; Abdelhakim, Marwa M; Adly, Nouran N; Jamjoom, Dima Z DZ; Sumaily, Khalid M KM; Alghanem, Bandar B; Arold, Stefan T ST

Publication Date: 2021-01

Variant appearance in text: PNPO: R116Q

PubMed Link: 32888189

Variant Present in the following documents:

• Main text
• CGE-99-99.pdf

View BVdb publication page

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Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy.

Scientific Reports

Barile, Anna A; Nogués, Isabel I; di Salvo, Martino L ML; Bunik, Victoria V; Contestabile, Roberto R; Tramonti, Angela A

Publication Date: 2020-08-12

Variant appearance in text: PNPO: 347G>A; R116Q

PubMed Link: 32788630

Variant Present in the following documents:

• Main text
• 41598_2020_Article_70598.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: PNPO: R116Q

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Exploiting loss of heterozygosity for allele-selective colorectal cancer chemotherapy.

Nature Communications

Rendo, Veronica V; Stoimenov, Ivaylo I; Mateus, André A; Sjöberg, Elin E; Svensson, Richard R; Gustavsson, Anna-Lena AL; Johansson, Lars L; Ng, Adrian A; OʼBrien, Casey C; Giannakis, Marios M; Artursson, Per P; Nygren, Peter P; Cheong, Ian I; Sjöblom, Tobias T

Publication Date: 2020-03-11

Variant appearance in text: PNPO: R116Q; rs17679445

PubMed Link: 32161261

Variant Present in the following documents:

• 41467_2020_15111_MOESM1_ESM.pdf

View BVdb publication page

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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology

Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K

Publication Date: 2020-01-01

Variant appearance in text: rs17679445

PubMed Link: 31746962

Variant Present in the following documents:

• jamacardiol-5-13-s001.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: PNPO: 347G>A; Arg116Gln; rs17679445

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Comparative Proteome Profiling and Mutant Protein Identification in Metastatic Prostate Cancer Cells by Quantitative Mass Spectrometry-based Proteogenomics.

Cancer Genomics & Proteomics

Kwon, Oh Kwang OK; Ha, Yun-Sok YS; Lee, Jun Nyung JN; Kim, Sunjoo S; Lee, Hyesuk H; Chun, So Young SY; Kwon, Tae Gyun TG; Lee, Sangkyu S

Publication Date: 2019

Variant appearance in text: PNPO: R116Q; rs17679445

PubMed Link: 31243108

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effectiveness of correcting abnormal metabolic profiles.

Journal Of Inherited Metabolic Disease

Clayton, Peter Theodore PT

Publication Date: 2020-01

Variant appearance in text: PNPO: R116Q

PubMed Link: 31222759

Variant Present in the following documents:

• Main text
• JIMD-43-2.pdf

View BVdb publication page

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Childhood cerebellar tumours mirror conserved fetal transcriptional programs.

Nature

Vladoiu, Maria C MC; El-Hamamy, Ibrahim I; Donovan, Laura K LK; Farooq, Hamza H; Holgado, Borja L BL; Sundaravadanam, Yogi Y; Ramaswamy, Vijay V; Hendrikse, Liam D LD; Kumar, Sachin S; Mack, Stephen C SC; Lee, John J Y JJY; Fong, Vernon V; Juraschka, Kyle K; Przelicki, David D; Michealraj, Antony A; Skowron, Patryk P; Luu, Betty B; Suzuki, Hiromichi H; Morrissy, A Sorana AS; Cavalli, Florence M G FMG; Garzia, Livia L; Daniels, Craig C; Wu, Xiaochong X; Qazi, Maleeha A MA; Singh, Sheila K SK; Chan, Jennifer A JA; Marra, Marco A MA; Malkin, David D; Dirks, Peter P; Heisler, Lawrence L; Pugh, Trevor T; Ng, Karen K; Notta, Faiyaz F; Thompson, Eric M EM; Kleinman, Claudia L CL; Joyner, Alexandra L AL; Jabado, Nada N; Stein, Lincoln L; Taylor, Michael D MD

Publication Date: 2019-08

Variant appearance in text: rs17679445

PubMed Link: 31043743

Variant Present in the following documents:

• NIHMS1525286-supplement-Sup_Table_7.xlsx, sheet 9

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PNPO: 347G>A; Arg116Gln

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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: PNPO: R116Q; rs17679445

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

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: rs17679445

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: PNPO: R116Q; rs17679445

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

View BVdb publication page

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Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

Data In Brief

di Salvo, Martino L ML; Mastrangelo, Mario M; Nogués, Isabel I; Tolve, Manuela M; Paiardini, Alessandro A; Carducci, Carla C; Mei, Davide D; Montomoli, Martino M; Tramonti, Angela A; Guerrini, Renzo R; Contestabile, Roberto R; Leuzzi, Vincenzo V

Publication Date: 2017-12

Variant appearance in text: PNPO: Arg116Gln

PubMed Link: 29379851

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.

Analytical Chemistry

Wilson, Matthew P MP; Footitt, Emma J EJ; Papandreou, Apostolos A; Uudelepp, Mari-Liis ML; Pressler, Ronit R; Stevenson, Danielle C DC; Gabriel, Camila C; McSweeney, Mel M; Baggot, Matthew M; Burke, Derek D; Stödberg, Tommy T; Riney, Kate K; Schiff, Manuel M; Heales, Simon J R SJR; Mills, Kevin A KA; Gissen, Paul P; Clayton, Peter T PT; Mills, Philippa B PB

Publication Date: 2017-09-05

Variant appearance in text: PNPO: R116Q

PubMed Link: 28782931

Variant Present in the following documents:

• Main text
• ac7b01358_si_001.pdf
• ac7b01358.pdf

View BVdb publication page

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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: PNPO: R116Q; rs17679445

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1
• 13073_2017_454_MOESM6_ESM.xlsx, 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: PNPO: 347G>A; Arg116Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: PNPO: R116Q; rs17679445

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

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Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Plos One

Yubero, Dèlia D; Brandi, Núria N; Ormazabal, Aida A; Garcia-Cazorla, Àngels À; Pérez-Dueñas, Belén B; Campistol, Jaime J; Ribes, Antonia A; Palau, Francesc F; Artuch, Rafael R; Armstrong, Judith J; ,

Publication Date: 2016

Variant appearance in text: PNPO: Arg116Gln

PubMed Link: 27243974

Variant Present in the following documents:

• pone.0156359.s002.xlsx, sheet 1

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: rs17679445

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.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: PNPO: R116Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: PNPO: R116Q; rs17679445

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1

View BVdb publication page

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Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.

Jimd Reports

Levtova, Alina A; Camuzeaux, Stephane S; Laberge, Anne-Marie AM; Allard, Pierre P; Brunel-Guitton, Catherine C; Diadori, Paola P; Rossignol, Elsa E; Hyland, Keith K; Clayton, Peter T PT; Mills, Philippa B PB; Mitchell, Grant A GA

Publication Date: 2015

Variant appearance in text: PNPO: R116Q

PubMed Link: 25762494

Variant Present in the following documents:

• Main text

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: PNPO: R116Q; rs17679445

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: PNPO: R116Q; rs17679445

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Pyridoxine responsiveness in novel mutations of the PNPO gene.

Neurology

Plecko, Barbara B; Paul, Karl K; Mills, Philippa P; Clayton, Peter P; Paschke, Eduard E; Maier, Oliver O; Hasselmann, Oswald O; Schmiedel, Gudrun G; Kanz, Simone S; Connolly, Mary M; Wolf, Nicole N; Struys, Eduard E; Stockler, Sylvia S; Abela, Lucia L; Hofer, Doris D

Publication Date: 2014-04-22

Variant appearance in text: PNPO: 347G>A

PubMed Link: 24658933

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.

Brain : A Journal Of Neurology

Mills, Philippa B PB; Camuzeaux, Stephane S M SS; Footitt, Emma J EJ; Mills, Kevin A KA; Gissen, Paul P; Fisher, Laura L; Das, Krishna B KB; Varadkar, Sophia M SM; Zuberi, Sameer S; McWilliam, Robert R; Stödberg, Tommy T; Plecko, Barbara B; Baumgartner, Matthias R MR; Maier, Oliver O; Calvert, Sophie S; Riney, Kate K; Wolf, Nicole I NI; Livingston, John H JH; Bala, Pronab P; Morel, Chantal F CF; Feillet, François F; Raimondi, Francesco F; Del Giudice, Ennio E; Chong, W Kling WK; Pitt, Matthew M; Clayton, Peter T PT

Publication Date: 2014-05

Variant appearance in text: PNPO: R116Q

PubMed Link: 24645144

Variant Present in the following documents:

• Main text
• awu051.pdf

View BVdb publication page

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