Publications:

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Characteristics of circulating small noncoding RNAs in plasma and serum during human aging.

Aging Medicine (Milton (N.S.W))

Xiao, Ping P; Shi, Zhangyue Z; Liu, Chenang C; Hagen, Darren E DE

Publication Date: 2023-03

Variant appearance in text: rs28933981

PubMed Link: 36911092

Variant Present in the following documents:

• AGM2-6-35-s002.xlsx, sheet 3

View BVdb publication page

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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.

Circulation. Genomic And Precision Medicine

Hoorntje, Edgar T ET; Burns, Charlotte C; Marsili, Luisa L; Corden, Ben B; Parikh, Victoria N VN; Te Meerman, Gerard J GJ; Gray, Belinda B; Adiyaman, Ahmet A; Bagnall, Richard D RD; Barge-Schaapveld, Daniela Q C M DQCM; van den Berg, Maarten P MP; Bootsma, Marianne M; Bosman, Laurens P LP; Correnti, Gemma G; Duflou, Johan J; Eppinga, Ruben N RN; Fatkin, Diane D; Fietz, Michael M; Haan, Eric E; Jongbloed, Jan D H JDH; Hauer, Arnaud D AD; Lam, Lien L; van Lint, Freyja H M FHM; Lota, Amrit A; Marcelis, Carlo C; McCarthy, Hugh J HJ; van Mil, Anneke M AM; Oldenburg, Rogier A RA; Pachter, Nicholas N; Planken, R Nils RN; Reuter, Chloe C; Semsarian, Christopher C; van der Smagt, Jasper J JJ; Thompson, Tina T; Vohra, Jitendra J; Volders, Paul G A PGA; van Waning, Jaap I JI; Whiffin, Nicola N; van den Wijngaard, Arthur A; Amin, Ahmad S AS; Wilde, Arthur A M AAM; van Woerden, Gijs G; Yeates, Laura L; Zentner, Dominica D; Ashley, Euan A EA; Wheeler, Matthew T MT; Ware, James S JS; van Tintelen, J Peter JP; Ingles, Jodie J

Publication Date: 2022-12-29

Variant appearance in text: TTR: Thr139Met

PubMed Link: 36580316

Variant Present in the following documents:

• hcg-16-e003672-s002.xlsx, sheet 6

View BVdb publication page

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Oral Therapy for the Treatment of Transthyretin-Related Amyloid Cardiomyopathy.

International Journal Of Molecular Sciences

Nuvolone, Mario M; Girelli, Maria M; Merlini, Giampaolo G

Publication Date: 2022-12-18

Variant appearance in text: TTR: Thr139Met

PubMed Link: 36555787

Variant Present in the following documents:

• Main text
• ijms-23-16145.pdf

View BVdb publication page

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Rare and common genetic determinants of metabolic individuality and their effects on human health.

Nature Medicine

Surendran, Praveen P; Stewart, Isobel D ID; Au Yeung, Victoria P W VPW; Pietzner, Maik M; Raffler, Johannes J; Wörheide, Maria A MA; Li, Chen C; Smith, Rebecca F RF; Wittemans, Laura B L LBL; Bomba, Lorenzo L; Menni, Cristina C; Zierer, Jonas J; Rossi, Niccolò N; Sheridan, Patricia A PA; Watkins, Nicholas A NA; Mangino, Massimo M; Hysi, Pirro G PG; Di Angelantonio, Emanuele E; Falchi, Mario M; Spector, Tim D TD; Soranzo, Nicole N; Michelotti, Gregory A GA; Arlt, Wiebke W; Lotta, Luca A LA; Denaxas, Spiros S; Hemingway, Harry H; Gamazon, Eric R ER; Howson, Joanna M M JMM; Wood, Angela M AM; Danesh, John J; Wareham, Nicholas J NJ; Kastenmüller, Gabi G; Fauman, Eric B EB; Suhre, Karsten K; Butterworth, Adam S AS; Langenberg, Claudia C

Publication Date: 2022-11

Variant appearance in text: rs28933981

PubMed Link: 36357675

Variant Present in the following documents:

• Main text
• 41591_2022_Article_2046.pdf

View BVdb publication page

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Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Frontiers In Cardiovascular Medicine

Liu, Yu-Xing YX; Yu, Rong R; Sheng, Yue Y; Fan, Liang-Liang LL; Deng, Yao Y

Publication Date: 2022

Variant appearance in text: rs28933981

PubMed Link: 36277747

Variant Present in the following documents:

• Data_Sheet_1.xls, sheet 1

View BVdb publication page

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Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.

Neurology And Therapy

Patel, Jignesh K JK; Rosen, Andrew M AM; Chamberlin, Adam A; Feldmann, Benjamin B; Antolik, Christian C; Zimmermann, Heather H; Johnston, Tami T; Narayana, Arvind A

Publication Date: 2022-12

Variant appearance in text: TTR: T139M

PubMed Link: 35933469

Variant Present in the following documents:

• Main text
• 40120_2022_Article_385.pdf

View BVdb publication page

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Transthyretin cardiac amyloidosis.

Cardiovascular Research

Porcari, Aldostefano A; Fontana, Marianna M; Gillmore, Julian D JD

Publication Date: 2022-08-05

Variant appearance in text: TTR: T139M

PubMed Link: 35929637

Variant Present in the following documents:

• Main text
• cvac119.pdf

View BVdb publication page

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Amyloidogenicity assessment of transthyretin gene variants.

Annals Of Clinical And Translational Neurology

Grether, Nicolai B NB; Napravnik, Felix F; Imhof, Thomas T; Linke, Reinhold P RP; Bräsen, Jan H JH; Schmitz, Jessica J; Dohrn, Maike M; Schneider, Christian C; Svačina, Martin K R MKR; Stetefeld, Jörg J; Koch, Manuel M; Lehmann, Helmar C HC

Publication Date: 2022-08

Variant appearance in text: TTR: Thr139Met

PubMed Link: 35903975

Variant Present in the following documents:

• Main text
• ACN3-9-1252.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: TTR: T139M; rs28933981

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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ATTR Amyloidosis: Current and Emerging Management Strategies: JACC: CardioOncology State-of-the-Art Review.

Jacc. Cardiooncology

Griffin, Jan M JM; Rosenthal, Julie L JL; Grodin, Justin L JL; Maurer, Mathew S MS; Grogan, Martha M; Cheng, Richard K RK

Publication Date: 2021-10

Variant appearance in text: TTR: T139M

PubMed Link: 34729521

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Teerlink, Craig C CC; Miller, Justin B JB; Vance, Elizabeth L EL; Staley, Lyndsay A LA; Stevens, Jeffrey J; Tavana, Justina P JP; Cloward, Matthew E ME; Page, Madeline L ML; Dayton, Louisa L; , ; Cannon-Albright, Lisa A LA; Kauwe, John S K JSK

Publication Date: 2022-02

Variant appearance in text: rs28933981

PubMed Link: 34151536

Variant Present in the following documents:

• Main text
• ALZ-18-307-s002.xlsx, sheet 3
• ALZ-18-307.pdf
• ALZ-18-307-s002.xlsx, sheet 1
• ALZ-18-307-s002.xlsx, sheet 2
• ALZ-18-307-s003.xlsx, sheet 1
• ALZ-18-307-s002.xlsx, sheet 4

View BVdb publication page

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A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z

Publication Date: 2021-05

Variant appearance in text: TTR: T139M

PubMed Link: 34026427

Variant Present in the following documents:

• ADVS-8-2001978-s004.xlsx, sheet 4

View BVdb publication page

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Feasibility of assessing progression of transthyretin amyloid polyneuropathy using nerve conduction studies: Findings from the Transthyretin Amyloidosis Outcomes Survey (THAOS).

Journal Of The Peripheral Nervous System : Jpns

Waddington-Cruz, Márcia M; Ando, Yukio Y; Amass, Leslie L; Kiszko, Jan J; Chapman, Doug D; Sekijima, Yoshiki Y; ,

Publication Date: 2021-06

Variant appearance in text: TTR: Thr139Met

PubMed Link: 33844361

Variant Present in the following documents:

• Main text

View BVdb publication page

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Drug Discovery and Development in Rare Diseases: Taking a Closer Look at the Tafamidis Story.

Drug Design, Development And Therapy

Burton, Arianna A; Castaño, Adam A; Bruno, Marianna M; Riley, Steve S; Schumacher, Jennifer J; Sultan, Marla B MB; See Tai, Sandi S; Judge, Daniel P DP; Patel, Jignesh K JK; Kelly, Jeffery W JW

Publication Date: 2021

Variant appearance in text: TTR: Thr139Met

PubMed Link: 33776421

Variant Present in the following documents:

• Main text
• dddt-15-1225.pdf

View BVdb publication page

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Prevalence of hereditary transthyretin amyloid polyneuropathy in idiopathic progressive neuropathy in conurban areas.

Neurological Research And Practice

Thimm, Andreas A; Bolz, Saskia S; Fleischer, Michael M; Stolte, Benjamin B; Wurthmann, Sebastian S; Totzeck, Andreas A; Carpinteiro, Alexander A; Luedike, Peter P; Papathanasiou, Maria M; Rischpler, Christoph C; Herrmann, Ken K; Rassaf, Tienush T; Steinmüller-Magin, Lars L; Kleinschnitz, Christoph C; Hagenacker, Tim T

Publication Date: 2019

Variant appearance in text: TTR: Thr139Met

PubMed Link: 33324896

Variant Present in the following documents:

• Main text
• 42466_2019_Article_35.pdf

View BVdb publication page

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Association of Low Plasma Transthyretin Concentration With Risk of Heart Failure in the General Population.

Jama Cardiology

Greve, Anders M AM; Christoffersen, Mette M; Frikke-Schmidt, Ruth R; Nordestgaard, Børge G BG; Tybjærg-Hansen, Anne A

Publication Date: 2021-03-01

Variant appearance in text: TTR: T139M; rs28933981

PubMed Link: 33237279

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: TTR: T139M

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Treating Protein Misfolding Diseases: Therapeutic Successes Against Systemic Amyloidoses.

Frontiers In Pharmacology

Nevone, Alice A; Merlini, Giampaolo G; Nuvolone, Mario M

Publication Date: 2020

Variant appearance in text: TTR: Thr139Met

PubMed Link: 32754033

Variant Present in the following documents:

• Main text
• fphar-11-01024.pdf

View BVdb publication page

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Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.

Journal Of Clinical Medicine

Auer-Grumbach, Michaela M; Rettl, Rene R; Ablasser, Klemens K; Agis, Hermine H; Beetz, Christian C; Duca, Franz F; Gattermeier, Martin M; Glaser, Franz F; Hacker, Markus M; Kain, Renate R; Kaufmann, Birgit B; Kovacs, Gabor G GG; Lampl, Christian C; Ljevakovic, Neira N; Nagele, Jutta J; Pölzl, Gerhard G; Quasthoff, Stefan S; Raimann, Bernadette B; Rauschka, Helmut H; Reiter, Christian C; Skrahina, Volha V; Schuhfried, Othmar O; Sunder-Plassmann, Raute R; Verheyen, Nicolas D ND; Wanschitz, Julia J; Weber, Thomas T; Windhager, Reinhard R; Wurm, Raphael R; Zimprich, Friedrich F; Löscher, Wolfgang N WN; Bonderman, Diana D

Publication Date: 2020-07-14

Variant appearance in text: TTR: 416C>T; rs28933981

PubMed Link: 32674397

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Dysalbuminemic Hyperthyroxinemia: An Underdiagnosed Entity.

Journal Of Clinical Medicine

Dieu, Xavier X; Bouzamondo, Nathalie N; Briet, Claire C; Illouz, Frédéric F; Moal, Valérie V; Boux de Casson, Florence F; Bouhours-Nouet, Natacha N; Reynier, Pascal P; Coutant, Régis R; Rodien, Patrice P; Mirebeau-Prunier, Delphine D

Publication Date: 2020-07-03

Variant appearance in text: TTR: 416C>T; T139M

PubMed Link: 32635414

Variant Present in the following documents:

• Main text

View BVdb publication page

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Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.

Journal Of Neurology

Dohrn, Maike F MF; Auer-Grumbach, Michaela M; Baron, Ralf R; Birklein, Frank F; Escolano-Lozano, Fabiola F; Geber, Christian C; Grether, Nicolai N; Hagenacker, Tim T; Hund, Ernst E; Sachau, Juliane J; Schilling, Matthias M; Schmidt, Jens J; Schulte-Mattler, Wilhelm W; Sommer, Claudia C; Weiler, Markus M; Wunderlich, Gilbert G; Hahn, Katrin K

Publication Date: 2021-10

Variant appearance in text: TTR: Thr139Met

PubMed Link: 32500375

Variant Present in the following documents:

• Main text
• 415_2020_Article_9962.pdf

View BVdb publication page

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: TTR: 416C>T; Thr139Met

PubMed Link: 32483926

Variant Present in the following documents:

• AOS-98-e1034-s012.xlsx, sheet 1

View BVdb publication page

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Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports

Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C

Publication Date: 2020-04-28

Variant appearance in text: TTR: 416C>T; T139M; rs28933981

PubMed Link: 32345996

Variant Present in the following documents:

• 41598_2020_63183_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TTR: 416C>T; T139M

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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: TTR: 416C>T; Thr139Met

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: TTR: T139M; rs28933981

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Esc Heart Failure

Jääskeläinen, Pertti P; Vangipurapu, Jagadish J; Raivo, Joose J; Kuulasmaa, Teemu T; Heliö, Tiina T; Aalto-Setälä, Katriina K; Kaartinen, Maija M; Ilveskoski, Erkki E; Vanninen, Sari S; Hämäläinen, Liisa L; Melin, John J; Kokkonen, Jorma J; Nieminen, Markku S MS; , ; Laakso, Markku M; Kuusisto, Johanna J

Publication Date: 2019-04

Variant appearance in text: TTR: 416C>T; Thr139Met

PubMed Link: 30775854

Variant Present in the following documents:

• EHF2-6-436-s005.xlsx, sheet 1

View BVdb publication page

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Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.

European Journal Of Human Genetics : Ejhg

Lahuerta Pueyo, Carmen C; Aibar Arregui, Miguel Ángel MÁ; Gracia Gutierrez, Anyuli A; Bueno Juana, Esperanza E; Menao Guillén, Sebastián S

Publication Date: 2019-05

Variant appearance in text: TTR: 416C>T; Thr139Met

PubMed Link: 30683924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Plos One

Forleo, Cinzia C; D'Erchia, Anna Maria AM; Sorrentino, Sandro S; Manzari, Caterina C; Chiara, Matteo M; Iacoviello, Massimo M; Guaricci, Andrea Igoren AI; De Santis, Delia D; Musci, Rita Leonarda RL; La Spada, Antonino A; Marangelli, Vito V; Pesole, Graziano G; Favale, Stefano S

Publication Date: 2017

Variant appearance in text: rs28933981

PubMed Link: 28750076

Variant Present in the following documents:

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: TTR: 416C>T; Thr139Met

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Impact of genetic variation on three dimensional structure and function of proteins.

Plos One

Bhattacharya, Roshni R; Rose, Peter W PW; Burley, Stephen K SK; Prlić, Andreas A

Publication Date: 2017

Variant appearance in text: rs28933981

PubMed Link: 28296894

Variant Present in the following documents:

• Main text
• pone.0171355.pdf

View BVdb publication page

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The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa.

Molecular Genetics & Genomic Medicine

Jacobson, Daniel R DR; Alexander, Alice A AA; Tagoe, Clement C; Garvey, W T WT; Williams, Scott M SM; Tishkoff, Sara S; Modiano, David D; Sirima, Sodiomon B SB; Kalidi, Issa I; Toure, Amadou A; Buxbaum, Joel N JN

Publication Date: 2016-09

Variant appearance in text: TTR: Thr139Met

PubMed Link: 27652282

Variant Present in the following documents:

• Main text
• MGG3-4-548.pdf

View BVdb publication page

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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: TTR: T139M

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.

Plos One

Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J

Publication Date: 2016

Variant appearance in text: TTR: T139M; rs28933981

PubMed Link: 27249223

Variant Present in the following documents:

• Main text
• pone.0150079.pdf
• pone.0150079.s002.xlsx, sheet 1

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: TTR: T139M

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Preclinical evaluation of RNAi as a treatment for transthyretin-mediated amyloidosis.

Amyloid : The International Journal Of Experimental And Clinical Investigation : The Official Journal Of The International Society Of Amyloidosis

Butler, James S JS; Chan, Amy A; Costelha, Susete S; Fishman, Shannon S; Willoughby, Jennifer L S JL; Borland, Todd D TD; Milstein, Stuart S; Foster, Donald J DJ; Gonçalves, Paula P; Chen, Qingmin Q; Qin, June J; Bettencourt, Brian R BR; Sah, Dinah W DW; Alvarez, Rene R; Rajeev, Kallanthottathil G KG; Manoharan, Muthiah M; Fitzgerald, Kevin K; Meyers, Rachel E RE; Nochur, Saraswathy V SV; Saraiva, Maria J MJ; Zimmermann, Tracy S TS

Publication Date: 2016-06

Variant appearance in text: TTR: Thr139Met

PubMed Link: 27033334

Variant Present in the following documents:

• Main text

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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: TTR: T139M; rs28933981

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 9

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Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis.

Neurology And Therapy

Coelho, Teresa T; Merlini, Giampaolo G; Bulawa, Christine E CE; Fleming, James A JA; Judge, Daniel P DP; Kelly, Jeffery W JW; Maurer, Mathew S MS; Planté-Bordeneuve, Violaine V; Labaudinière, Richard R; Mundayat, Rajiv R; Riley, Steve S; Lombardo, Ilise I; Huertas, Pedro P

Publication Date: 2016-06

Variant appearance in text: TTR: Thr139Met

PubMed Link: 26894299

Variant Present in the following documents:

• Main text
• 40120_2016_Article_40.pdf

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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: CTS1: T139M; rs28933981

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.

G3 (Bethesda, Md.)

Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS

Publication Date: 2015-09-16

Variant appearance in text: TTR: T139M; rs28933981

PubMed Link: 26384369

Variant Present in the following documents:

• supp_g3.115.021345_TableS1.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: TTR: T139M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Whole-genome sequence-based analysis of thyroid function.

Nature Communications

Taylor, Peter N PN; Porcu, Eleonora E; Chew, Shelby S; Campbell, Purdey J PJ; Traglia, Michela M; Brown, Suzanne J SJ; Mullin, Benjamin H BH; Shihab, Hashem A HA; Min, Josine J; Walter, Klaudia K; Memari, Yasin Y; Huang, Jie J; Barnes, Michael R MR; Beilby, John P JP; Charoen, Pimphen P; Danecek, Petr P; Dudbridge, Frank F; Forgetta, Vincenzo V; Greenwood, Celia C; Grundberg, Elin E; Johnson, Andrew D AD; Hui, Jennie J; Lim, Ee M EM; McCarthy, Shane S; Muddyman, Dawn D; Panicker, Vijay V; Perry, John R B JR; Bell, Jordana T JT; Yuan, Wei W; Relton, Caroline C; Gaunt, Tom T; Schlessinger, David D; Abecasis, Goncalo G; Cucca, Francesco F; Surdulescu, Gabriela L GL; Woltersdorf, Wolfram W; Zeggini, Eleftheria E; Zheng, Hou-Feng HF; Toniolo, Daniela D; Dayan, Colin M CM; Naitza, Silvia S; Walsh, John P JP; Spector, Tim T; Davey Smith, George G; Durbin, Richard R; Richards, J Brent JB; Sanna, Serena S; Soranzo, Nicole N; Timpson, Nicholas J NJ; Wilson, Scott G SG; ,

Publication Date: 2015-03-06

Variant appearance in text: rs28933981

PubMed Link: 25743335

Variant Present in the following documents:

• Main text
• ncomms6681-s1.pdf
• ncomms6681.pdf

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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: TTR: T139M; rs28933981

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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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: TTR: T139M; rs28933981

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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