Publications:

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Immune and Hereditary Thrombotic Thrombocytopenic Purpura: Can ADAMTS13 Deficiency Alone Explain the Different Clinical Phenotypes?

Journal Of Clinical Medicine

Lancellotti, Stefano S; Sacco, Monica M; Tardugno, Maira M; Ferretti, Antonietta A; De Cristofaro, Raimondo R

Publication Date: 2023-04-25

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 37176552

Variant Present in the following documents:

• jcm-12-03111.pdf

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Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.

Viruses

Zguro, Kristina K; Baldassarri, Margherita M; Fava, Francesca F; Beligni, Giada G; Daga, Sergio S; Leoncini, Roberto R; Galasso, Lucrezia L; Cirianni, Michele M; Rusconi, Stefano S; Siano, Matteo M; Francisci, Daniela D; Schiaroli, Elisabetta E; Luchi, Sauro S; Morelli, Giovanna G; Martinelli, Enrico E; Girardis, Massimo M; Busani, Stefano S; Parisi, Saverio Giuseppe SG; Panese, Sandro S; Piscopo, Carmelo C; Capasso, Mario M; Tacconi, Danilo D; Spertilli Raffaelli, Chiara C; Giliberti, Annarita A; Gori, Giulia G; Katsikis, Peter D PD; Lorubbio, Maria M; Calzoni, Paola P; Ognibene, Agostino A; Bocchia, Monica M; Tozzi, Monica M; Bucalossi, Alessandro A; Marotta, Giuseppe G; Furini, Simone S; Gen-Covid Multicenter Study, ; Renieri, Alessandra A; Fallerini, Chiara C

Publication Date: 2022-05-29

Variant appearance in text: ADAMTS13: 1423C>T; P475S

PubMed Link: 35746657

Variant Present in the following documents:

• Main text
• viruses-14-01185.pdf

View BVdb publication page

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PepNN: a deep attention model for the identification of peptide binding sites.

Communications Biology

Abdin, Osama O; Nim, Satra S; Wen, Han H; Kim, Philip M PM

Publication Date: 2022-05-26

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 35618814

Variant Present in the following documents:

• 42003_2022_3445_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.

Blood Advances

Borogovac, Azra A; Reese, Jessica A JA; Gupta, Samiksha S; George, James N JN

Publication Date: 2022-02-08

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 34807988

Variant Present in the following documents:

• advancesADV2021005760-suppl1.pdf

View BVdb publication page

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The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data

Zhao, Ting T; Fan, Shanghua S; Sun, Liu L

Publication Date: 2021-11-17

Variant appearance in text: rs11575933

PubMed Link: 34789164

Variant Present in the following documents:

• 12863_2021_1010_MOESM8_ESM.xlsx, sheet 1
• 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

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Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One

Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F

Publication Date: 2021

Variant appearance in text: ADAMTS13: P475S; rs11575933

PubMed Link: 34662354

Variant Present in the following documents:

• pone.0258675.s002.pdf

View BVdb publication page

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Protein C-Mannosylation and C-Mannosyl Tryptophan in Chemical Biology and Medicine.

Molecules (Basel, Switzerland)

Minakata, Shiho S; Manabe, Shino S; Inai, Yoko Y; Ikezaki, Midori M; Nishitsuji, Kazuchika K; Ito, Yukishige Y; Ihara, Yoshito Y

Publication Date: 2021-08-30

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 34500691

Variant Present in the following documents:

• Main text
• molecules-26-05258.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: ADAMTS13: Pro475Ser; rs11575933

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Treatment of pediatric intracranial dissecting aneurysm with clipping and angioplasty, and next-generation sequencing analysis: A case report and literature review.

World Journal Of Clinical Cases

Sun, Ning N; Yang, Xin-Yu XY; Zhao, Yan Y; Zhang, Qing-Jiang QJ; Ma, Xiao X; Wei, Zhong-Nan ZN; Li, Meng-Qi MQ

Publication Date: 2021-02-16

Variant appearance in text: ADAMTS13: 1423C>T; P475S; rs11575933

PubMed Link: 33644173

Variant Present in the following documents:

• Main text
• WJCC-9-1103.pdf

View BVdb publication page

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What makes non-cirrhotic portal hypertension a common disease in India? Analysis for environmental factors.

The Indian Journal Of Medical Research

Goel, Ashish A; Ramakrishna, Banumathi B; Zachariah, Uday U; Sajith, K G KG; Burad, Deepak K DK; Kodiatte, Thomas A TA; Keshava, Shyamkumar N SN; Balasubramanian, K A KA; Elias, Elwyn E; Eapen, C E CE

Publication Date: 2019-04

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 31411170

Variant Present in the following documents:

• IJMR-149-468.pdf

View BVdb publication page

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ADAMTS-13 and von Willebrand factor: a dynamic duo.

Journal Of Thrombosis And Haemostasis : Jth

South, K K; Lane, D A DA

Publication Date: 2018-01

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 29108103

Variant Present in the following documents:

• JTH-16-6.pdf

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: ADAMTS13: 1423C>T; Pro475Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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ADAM and ADAMTS Family Proteins and Snake Venom Metalloproteinases: A Structural Overview.

Toxins

Takeda, Soichi S

Publication Date: 2016-05-17

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 27196928

Variant Present in the following documents:

• Main text
• toxins-08-00155.pdf

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: rs11575933

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Hypercoagulability Is a Stronger Risk Factor for Ischaemic Stroke than for Myocardial Infarction: A Systematic Review.

Plos One

Maino, Alberto A; Rosendaal, Frits R FR; Algra, Ale A; Peyvandi, Flora F; Siegerink, Bob B

Publication Date: 2015

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 26252207

Variant Present in the following documents:

• pone.0133523.s007.pdf

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: ADAMTS13: P475S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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A Unique Case Involving a Female Patient with Upshaw-Schulman Syndrome: Low Titers of Antibodies against ADAMTS13 prior to Pregnancy Disappeared after Successful Delivery.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie

Ogawa, Yoshiyuki Y; Matsumoto, Masanori M; Sadakata, Hisanobu H; Isonishi, Ayami A; Kato, Seiji S; Nojima, Yoshihisa Y; Fujimura, Yoshihiro Y

Publication Date: 2015-01

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 25960717

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of the ADAMTS13 cysteine-rich domain in VWF binding and proteolysis.

Blood

de Groot, Rens R; Lane, David A DA; Crawley, James T B JT

Publication Date: 2015-03-19

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 25564400

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: rs11575933

PubMed Link: 25333069

Variant Present in the following documents:

• mgg30002-0438-SD2.pdf

View BVdb publication page

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Candidate gene analysis using genomic quantitative PCR: identification of ADAMTS13 large deletions in two patients with Upshaw-Schulman syndrome.

Molecular Genetics & Genomic Medicine

Eura, Yuka Y; Kokame, Koichi K; Takafuta, Toshiro T; Tanaka, Ryojiro R; Kobayashi, Hikaru H; Ishida, Fumihiro F; Hisanaga, Shuichi S; Matsumoto, Masanori M; Fujimura, Yoshihiro Y; Miyata, Toshiyuki T

Publication Date: 2014-05

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 24936513

Variant Present in the following documents:

• Main text
• mgg30002-0240.pdf

View BVdb publication page

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Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.

Mediterranean Journal Of Hematology And Infectious Diseases

Lancellotti, Stefano S; Basso, Maria M; De Cristofaro, Raimondo R

Publication Date: 2013-09-02

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 24106608

Variant Present in the following documents:

• Main text
• mjhid-5-1-e2013058.pdf

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs11575933

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.

Blood

Feng, Shuju S; Eyler, Stephen J SJ; Zhang, Yuzhou Y; Maga, Tara T; Nester, Carla M CM; Kroll, Michael H MH; Smith, Richard J RJ; Afshar-Kharghan, Vahid V

Publication Date: 2013-08-22

Variant appearance in text: ADAMTS13: 1423C>T; P475S

PubMed Link: 23847193

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches.

Plos One

Edwards, Nathan C NC; Hing, Zachary A ZA; Perry, Avital A; Blaisdell, Adam A; Kopelman, David B DB; Fathke, Robert R; Plum, William W; Newell, Jordan J; Allen, Courtni E CE; S, Geetha G; Shapiro, Aaron A; Okunji, Chinyere C; Kosti, Idit I; Shomron, Noam N; Grigoryan, Vahan V; Przytycka, Teresa M TM; Sauna, Zuben E ZE; Salari, Raheleh R; Mandel-Gutfreund, Yael Y; Komar, Anton A AA; Kimchi-Sarfaty, Chava C

Publication Date: 2012

Variant appearance in text: rs11575933

PubMed Link: 22768050

Variant Present in the following documents:

• Main text
• pone.0038864.pdf

View BVdb publication page

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Association of ADAMTS13 polymorphism with cerebral malaria.

Malaria Journal

Kraisin, Sirima S; Naka, Izumi I; Patarapotikul, Jintana J; Nantakomol, Duangdao D; Nuchnoi, Pornlada P; Hananantachai, Hathairad H; Tsuchiya, Naoyuki N; Ohashi, Jun J

Publication Date: 2011-12-14

Variant appearance in text: ADAMTS13: P475S; rs11575933

PubMed Link: 22168261

Variant Present in the following documents:

• Main text

View BVdb publication page

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ADAMTS13 gene mutations in children with hemolytic uremic syndrome.

Yonsei Medical Journal

Choi, Hyoung Soo HS; Cheong, Hae Il HI; Kim, Nam Keun NK; Oh, Doyeun D; Park, Hye Won HW

Publication Date: 2011-05

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 21488199

Variant Present in the following documents:

• Main text
• ymj-52-530.pdf

View BVdb publication page

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Pathophysiology of thrombotic thrombocytopenic purpura.

International Journal Of Hematology

Tsai, Han-Mou HM

Publication Date: 2010-01

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 20058209

Variant Present in the following documents:

• Main text

View BVdb publication page

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Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor.

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

Akiyama, Masashi M; Takeda, Soichi S; Kokame, Koichi K; Takagi, Junichi J; Miyata, Toshiyuki T

Publication Date: 2009-11-17

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 19880749

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of conformation-sensitive antibodies to ADAMTS13, the von Willebrand cleavage protease.

Plos One

Sauna, Zuben E ZE; Okunji, Chinyere C; Hunt, Ryan C RC; Gupta, Tanvi T; Allen, Courtni E CE; Plum, Elizabeth E; Blaisdell, Adam A; Grigoryan, Vahan V; Geetha, S S; Fathke, Robert R; Soejima, Kenji K; Kimchi-Sarfaty, Chava C

Publication Date: 2009-08-05

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 19654870

Variant Present in the following documents:

• Main text

View BVdb publication page

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Production, crystallization and preliminary crystallographic analysis of an exosite-containing fragment of human von Willebrand factor-cleaving proteinase ADAMTS13.

Acta Crystallographica. Section F, Structural Biology And Crystallization Communications

Akiyama, Masashi M; Takeda, Soichi S; Kokame, Koichi K; Takagi, Junichi J; Miyata, Toshiyuki T

Publication Date: 2009-07-01

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 19574655

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of Pro475Ser polymorphism of ADAMTS13 gene and its association with ADAMTS-13 activity in the Korean population.

Yonsei Medical Journal

Jang, Mun Ju MJ; Kim, Nam Keun NK; Chong, So Young SY; Kim, Hye Jin HJ; Lee, Seon Ju SJ; Kang, Myung Seo MS; Oh, Doyeun D

Publication Date: 2008-06-30

Variant appearance in text: ADAMTS13: Pro475Ser

PubMed Link: 18581589

Variant Present in the following documents:

• Main text
• ymj-49-405.pdf

View BVdb publication page

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Molecular biology of ADAMTS13 and diagnostic utility of ADAMTS13 proteolytic activity and inhibitor assays.

Seminars In Thrombosis And Hemostasis

Shelat, Suresh G SG; Ai, Jihui J; Zheng, X Long XL

Publication Date: 2005-12

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 16388417

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shigatoxin triggers thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice.

The Journal Of Clinical Investigation

Motto, David G DG; Chauhan, Anil K AK; Zhu, Guojing G; Homeister, Jonathon J; Lamb, Colin B CB; Desch, Karl C KC; Zhang, Weirui W; Tsai, Han-Mou HM; Wagner, Denisa D DD; Ginsburg, David D

Publication Date: 2005-10

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 16200209

Variant Present in the following documents:

• Main text

View BVdb publication page

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A new name in thrombosis, ADAMTS13.

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

Sadler, J Evan JE

Publication Date: 2002-09-03

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 12195022

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.

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

Kokame, Koichi K; Matsumoto, Masanori M; Soejima, Kenji K; Yagi, Hideo H; Ishizashi, Hiromichi H; Funato, Masahisa M; Tamai, Hiroshi H; Konno, Mutsuko M; Kamide, Kei K; Kawano, Yuhei Y; Miyata, Toshiyuki T; Fujimura, Yoshihiro Y

Publication Date: 2002-09-03

Variant appearance in text: ADAMTS13: P475S

PubMed Link: 12181489

Variant Present in the following documents:

• Main text

View BVdb publication page

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