Publications:

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Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

International Journal Of Molecular Sciences

Thakran, Sarita S; Guin, Debleena D; Singh, Pooja P; Singh, Priyanka P; Kukal, Samiksha S; Rawat, Chitra C; Yadav, Saroj S; Kushwaha, Suman S SS; Srivastava, Achal K AK; Hasija, Yasha Y; Saso, Luciano L; Ramachandran, Srinivasan S; Kukreti, Ritushree R

Publication Date: 2020-10-21

Variant appearance in text: PRNP: N171S

PubMed Link: 33096746

Variant Present in the following documents:

• Main text
• ijms-21-07784.pdf

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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: N171S

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

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Corticobasal manifestations of Creutzfeldt-Jakob disease with D178N-homozygous 129M genotype.

Prion

Huang, Yumeng Y; Jianfang, Ma M; Morales, Rodrigo R; Tang, Huidong H

Publication Date: 2020-12

Variant appearance in text: CJD: N171S

PubMed Link: 32946318

Variant Present in the following documents:

• KPRN_14_1812367.pdf

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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: N171S

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: 512A>G

PubMed Link: 31653880

Variant Present in the following documents:

• Main text
• 41598_2019_Article_51621.pdf

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Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

International Journal Of Molecular Sciences

Bernardi, Livia L; Bruni, Amalia C AC

Publication Date: 2019-07-23

Variant appearance in text: PRNP: N171S

PubMed Link: 31340582

Variant Present in the following documents:

• Main text
• ijms-20-03606.pdf

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Pressure Reveals Unique Conformational Features in Prion Protein Fibril Diversity.

Scientific Reports

Torrent, Joan J; Martin, Davy D; Noinville, Sylvie S; Yin, Yi Y; Doumic, Marie M; Moudjou, Mohammed M; Béringue, Vincent V; Rezaei, Human H

Publication Date: 2019-02-26

Variant appearance in text: PRNP: N171S

PubMed Link: 30808892

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39261.pdf

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Prion-like protein gene (PRND) polymorphisms associated with scrapie susceptibility in Korean native black goats.

Plos One

Jeong, Min-Ju MJ; Kim, Yong-Chan YC; Jeong, Byung-Hoon BH

Publication Date: 2018

Variant appearance in text: PRNP: 512A>G

PubMed Link: 30359416

Variant Present in the following documents:

• Main text

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Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Neuropsychiatric Disease And Treatment

Bagyinszky, Eva E; Giau, Vo Van VV; Youn, Young Chul YC; An, Seong Soo A SSA; Kim, SangYun S

Publication Date: 2018

Variant appearance in text: CJD: N171S

PubMed Link: 30147320

Variant Present in the following documents:

• Main text
• ndt-14-2067.pdf

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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: PRNP: 512A>G; Asn171Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Epidemiological characteristics of human prion diseases.

Infectious Diseases Of Poverty

Chen, Cao C; Dong, Xiao-Ping XP

Publication Date: 2016-06-02

Variant appearance in text: CJD: N171S

PubMed Link: 27251305

Variant Present in the following documents:

• Main text
• 40249_2016_Article_143.pdf

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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: PRNP: N171S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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: PRNP: N171S; rs16990018

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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The structure of human prions: from biology to structural models-considerations and pitfalls.

Viruses

Acevedo-Morantes, Claudia Y CY; Wille, Holger H

Publication Date: 2014-10-20

Variant appearance in text: CJD: N171S

PubMed Link: 25333467

Variant Present in the following documents:

• viruses-06-03875.pdf

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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: PRNP: N171S; rs16990018

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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A proposal of new diagnostic pathway for fatal familial insomnia.

Journal Of Neurology, Neurosurgery, And Psychiatry

Krasnianski, A A; Sanchez Juan, P P; Ponto, Claudia C; Bartl, M M; Heinemann, U U; Varges, D D; Schulz-Schaeffer, W J WJ; Kretzschmar, H A HA; Zerr, I I

Publication Date: 2014-06

Variant appearance in text: CJD: N171S

PubMed Link: 24249784

Variant Present in the following documents:

• jnnp-2013-305978.pdf

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Discriminant analysis of prion sequences for prediction of susceptibility.

Experimental & Molecular Medicine

Lee, Ji-Hae JH; Bae, Se-Eun SE; Jung, Sunghoon S; Ahn, Insung I; Son, Hyeon Seok HS

Publication Date: 2013-10-11

Variant appearance in text: CJD: N171S

PubMed Link: 24113272

Variant Present in the following documents:

• Main text

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Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Molecules (Basel, Switzerland)

Giachin, Gabriele G; Biljan, Ivana I; Ilc, Gregor G; Plavec, Janez J; Legname, Giuseppe G

Publication Date: 2013-08-07

Variant appearance in text: CJD: N171S

PubMed Link: 23966072

Variant Present in the following documents:

• Main text

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Genetics of temporal lobe epilepsy: a review.

Epilepsy Research And Treatment

Salzmann, Annick A; Malafosse, Alain A

Publication Date: 2012

Variant appearance in text: PRNP: Asn171Ser

PubMed Link: 22957248

Variant Present in the following documents:

• Main text
• ERT2012-863702.pdf

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Strain specific resistance to murine scrapie associated with a naturally occurring human prion protein polymorphism at residue 171.

Plos Pathogens

Striebel, James F JF; Race, Brent B; Meade-White, Kimberly D KD; LaCasse, Rachel R; Chesebro, Bruce B

Publication Date: 2011-09

Variant appearance in text: CJD: N171S; rs16990018

PubMed Link: 21980292

Variant Present in the following documents:

• Main text
• ppat.1002275.pdf

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Genetic susceptibility, evolution and the kuru epidemic.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Mead, Simon S; Whitfield, Jerome J; Poulter, Mark M; Shah, Paresh P; Uphill, James J; Beck, Jonathan J; Campbell, Tracy T; Al-Dujaily, Huda H; Hummerich, Holger H; Alpers, Michael P MP; Collinge, John J

Publication Date: 2008-11-27

Variant appearance in text: PRNP: N171S

PubMed Link: 18849290

Variant Present in the following documents:

• Main text
• rstb20080087.pdf

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