Publications:

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PRNP Polymorphisms in Eight Local Goat Populations/Breeds from Central and Southern Italy.

Animals : An Open Access Journal From Mdpi

Torricelli, Martina M; Sebastiani, Carla C; Ciullo, Marcella M; Ceccobelli, Simone S; Chiappini, Barbara B; Vaccari, Gabriele G; Capocefalo, Antonio A; Conte, Michela M; Giovannini, Samira S; Lasagna, Emiliano E; Sarti, Francesca Maria FM; Biagetti, Massimo M

Publication Date: 2021-01-28

Variant appearance in text: PRNP: R151H

PubMed Link: 33525718

Variant Present in the following documents:

• Main text
• animals-11-00333.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PRNP: 452G>A; R151H

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: PRNP: R151H

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Absence of single nucleotide polymorphisms (SNPs) in the open reading frame (ORF) of the prion protein gene (PRNP) in a large sampling of various chicken breeds.

Bmc Genomics

Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2019-12-03

Variant appearance in text: PRNP: R151H

PubMed Link: 31795947

Variant Present in the following documents:

• Main text

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Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats.

Scientific Reports

Kim, Seon-Kwan SK; Kim, Yong-Chan YC; Won, Sae-Young SY; Jeong, Byung-Hoon BH

Publication Date: 2019-10-25

Variant appearance in text: PRNP: R151H

PubMed Link: 31653880

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51621.pdf

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Genetic, histochemical and biochemical studies on goat TSE cases from Cyprus.

Veterinary Research

Niedermeyer, Susanne S; Eiden, Martin M; Toumazos, Pavlos P; Papasavva-Stylianou, Penelope P; Ioannou, Ioannis I; Sklaviadis, Theodoros T; Panagiotidis, Cynthia C; Langeveld, Jan J; Bossers, Alex A; Kuczius, Thorsten T; Kaatz, Martin M; Groschup, Martin H MH; Fast, Christine C

Publication Date: 2016-10-06

Variant appearance in text: PRNP: R151H

PubMed Link: 27716411

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PRNP: 452G>A; R151H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Polymorphism analysis of prion protein gene in 11 Pakistani goat breeds.

Prion

Hassan, Mohammad Farooque MF; Khan, Sher Hayat SH; Babar, Masroor Ellahi ME; Yang, Lifeng L; Ali, Tariq T; Khan, Jamal Muhammad JM; Shah, Syed Zahid Ali SZ; Zhou, Xiangmei X; Hussain, Tanveer T; Zhu, Ting T; Hussain, Tariq T; Zhao, Deming D

Publication Date: 2016-07-03

Variant appearance in text: CJD: R151H

PubMed Link: 27388702

Variant Present in the following documents:

• Main text

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: PRNP: R151H

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: PRNP: R151H

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

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Perspectives of a scrapie resistance breeding scheme targeting Q211, S146 and K222 caprine PRNP alleles in Greek goats.

Veterinary Research

Kanata, Eirini E; Humphreys-Panagiotidis, Cynthia C; Giadinis, Nektarios D ND; Papaioannou, Nikolaos N; Arsenakis, Minas M; Sklaviadis, Theodoros T

Publication Date: 2014-04-09

Variant appearance in text: PRNP: R151H

PubMed Link: 24717012

Variant Present in the following documents:

• Main text
• 1297-9716-45-43.pdf

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Prion protein gene variability in Spanish goats. Inference through susceptibility to classical scrapie strains and pathogenic distribution of peripheral PrP(sc.).

Plos One

Acín, Cristina C; Martín-Burriel, Inmaculada I; Monleón, Eva E; Lyahyai, Jaber J; Pitarch, José Luis JL; Serrano, Carmen C; Monzón, Marta M; Zaragoza, Pilar P; Badiola, Juan José JJ

Publication Date: 2013

Variant appearance in text: PRNP: R151H

PubMed Link: 23580248

Variant Present in the following documents:

• Main text
• pone.0061118.pdf

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Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Nature Genetics

Dulak, Austin M AM; Stojanov, Petar P; Peng, Shouyong S; Lawrence, Michael S MS; Fox, Cameron C; Stewart, Chip C; Bandla, Santhoshi S; Imamura, Yu Y; Schumacher, Steven E SE; Shefler, Erica E; McKenna, Aaron A; Carter, Scott L SL; Cibulskis, Kristian K; Sivachenko, Andrey A; Saksena, Gordon G; Voet, Douglas D; Ramos, Alex H AH; Auclair, Daniel D; Thompson, Kristin K; Sougnez, Carrie C; Onofrio, Robert C RC; Guiducci, Candace C; Beroukhim, Rameen R; Zhou, Zhongren Z; Lin, Lin L; Lin, Jules J; Reddy, Rishindra R; Chang, Andrew A; Landrenau, Rodney R; Pennathur, Arjun A; Ogino, Shuji S; Luketich, James D JD; Golub, Todd R TR; Gabriel, Stacey B SB; Lander, Eric S ES; Beer, David G DG; Godfrey, Tony E TE; Getz, Gad G; Bass, Adam J AJ

Publication Date: 2013-05

Variant appearance in text: PRNP: 452G>A; R151H

PubMed Link: 23525077

Variant Present in the following documents:

• NIHMS474888-supplement-6.xlsx, sheet 1

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PRNP genetic variability and molecular typing of natural goat scrapie isolates in a high number of infected flocks.

Veterinary Research

Fragkiadaki, Eirini G EG; Vaccari, Gabriele G; Ekateriniadou, Loukia V LV; Agrimi, Umberto U; Giadinis, Nektarios D ND; Chiappini, Barbara B; Esposito, Elena E; Conte, Michela M; Nonno, Romolo R

Publication Date: 2011-09-30

Variant appearance in text: PRNP: R151H

PubMed Link: 21961834

Variant Present in the following documents:

• Main text
• 1297-9716-42-104.pdf

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Effects of polymorphisms in ovine and caprine prion protein alleles on cell-free conversion.

Veterinary Research

Eiden, Martin M; Soto, Elizabeth Ortega EO; Mettenleiter, Thomas C TC; Groschup, Martin H MH

Publication Date: 2011-02-15

Variant appearance in text: PRNP: R151H

PubMed Link: 21324112

Variant Present in the following documents:

• Main text
• 1297-9716-42-30.pdf

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State-of-the-art review of goat TSE in the European Union, with special emphasis on PRNP genetics and epidemiology.

Veterinary Research

Vaccari, Gabriele G; Panagiotidis, Cynthia H CH; Acin, Cristina C; Peletto, Simone S; Barillet, Francis F; Acutis, Pierluigi P; Bossers, Alex A; Langeveld, Jan J; van Keulen, Lucien L; Sklaviadis, Theodoros T; Badiola, Juan J JJ; Andreéoletti, Olivier O; Groschup, Martin H MH; Agrimi, Umberto U; Foster, James J; Goldmann, Wilfred W

Publication Date: 2009

Variant appearance in text: PRNP: R151H

PubMed Link: 19505422

Variant Present in the following documents:

• Main text

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Analysis of multiple single nucleotide polymorphisms closely positioned in the ovine PRNP gene using linear fluorescent probes and melting curve analysis.

Bmc Infectious Diseases

French, David J DJ; Jones, Dominic D; McDowell, David G DG; Thomson, Jim A JA; Debenham, Paul G PG

Publication Date: 2007-08-03

Variant appearance in text: PRNP: R151H

PubMed Link: 17683552

Variant Present in the following documents:

• Main text
• 1471-2334-7-90.pdf

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