Publications:

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Systemic Autoinflammatory Disease and Genetic Testing.

Rheumatology And Immunology Research

Yao, Qingping Q

Publication Date: 2021-12

Variant appearance in text: NLRP12: F402L

PubMed Link: 36467988

Variant Present in the following documents:

• rir-02-209.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: NLRP12: F402L

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: NLRP12: Phe402Leu

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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NLRP12-associated systemic autoinflammatory diseases in children.

Pediatric Rheumatology Online Journal

Wang, Hui-Fang HF

Publication Date: 2022-02-05

Variant appearance in text: NLRP12: 1206C>G

PubMed Link: 35123508

Variant Present in the following documents:

• Main text
• 12969_2022_Article_669.pdf

View BVdb publication page

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NLRP12-associated systemic autoinflammatory diseases in children.

Pediatric Rheumatology Online Journal

Wang, Hui-Fang HF

Publication Date: 2022-02-05

Variant appearance in text: NLRP12: 1206C>G

PubMed Link: 35123508

Variant Present in the following documents:

• Main text
• 12969_2022_Article_669.pdf

View BVdb publication page

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Monogenic Adult-Onset Inborn Errors of Immunity.

Frontiers In Immunology

Staels, Frederik F; Collignon, Tom T; Betrains, Albrecht A; Gerbaux, Margaux M; Willemsen, Mathijs M; Humblet-Baron, Stephanie S; Liston, Adrian A; Vanderschueren, Steven S; Schrijvers, Rik R

Publication Date: 2021

Variant appearance in text: NLRP12: F402L

PubMed Link: 34867986

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: NLRP12: 1206C>G; Phe402Leu; rs34971363

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: NLRP12: 1206C>G; F402L; rs34971363

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1
• CNR2-4-e1335-s003.xlsx, sheet 2

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: NLRP12: 1206C>G; Phe402Leu; rs34971363

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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Association of NLRP1 Coding Polymorphism with Lung Function and Serum IL-1β Concentration in Patients Diagnosed with Chronic Obstructive Pulmonary Disease (COPD).

Genes

Ozretić, Petar P; da Silva Filho, Miguel Inacio MI; Catalano, Calogerina C; Sokolović, Irena I; Vukić-Dugac, Andrea A; Šutić, Maja M; Kurtović, Matea M; Bubanović, Gordana G; Popović-Grle, Sanja S; Skrinjarić-Cincar, Sanda S; Vugrek, Oliver O; Jukić, Irena I; Rumora, Lada L; Bosnar, Martina M; Samaržija, Miroslav M; Bals, Robert R; Jakopović, Marko M; Försti, Asta A; Knežević, Jelena J

Publication Date: 2019-10-09

Variant appearance in text: NLRP12: F402L; rs34971363

PubMed Link: 31601004

Variant Present in the following documents:

• Main text
• genes-10-00783.pdf

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: NLRP12: F402L; rs34971363

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_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: NLRP12: 1206C>G; Phe402Leu

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: NLRP12: F402L; rs34971363

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

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Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India.

Mediterranean Journal Of Hematology And Infectious Diseases

Ghosh, Kanjaksha K; Mishra, Kanchan K; Shah, Avani A; Patel, Parizad P; Shetty, Shrimati S

Publication Date: 2019

Variant appearance in text: NLRP12: F402L

PubMed Link: 30858956

Variant Present in the following documents:

• Main text
• mjhid-11-1-e2019018.pdf

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: rs34971363

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.

Digestive Diseases And Sciences

Jacob, Noam N; Dasharathy, Sonya S SS; Bui, Viet V; Benhammou, Jihane N JN; Grody, Wayne W WW; Singh, Ram Raj RR; Pisegna, Joseph R JR

Publication Date: 2019-08

Variant appearance in text: NLRP12: 1206C>G

PubMed Link: 30788684

Variant Present in the following documents:

• Main text

View BVdb publication page

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Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Biochemistry And Biophysics Reports

Nakayama, Manabu M; Oda, Hirotsugu H; Nakagawa, Kenji K; Yasumi, Takahiro T; Kawai, Tomoki T; Izawa, Kazushi K; Nishikomori, Ryuta R; Heike, Toshio T; Ohara, Osamu O

Publication Date: 2017-03

Variant appearance in text: NLRP12: Phe402Leu; rs34971363

PubMed Link: 28956000

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: NLRP12: 1206C>G

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

View BVdb publication page

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Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing.

Plos One

Xia, Xiaoru X; Dai, Caijun C; Zhu, Xiaochun X; Liao, Qiumei Q; Luo, Xu X; Fu, Yangyang Y; Wang, Liangxing L

Publication Date: 2016

Variant appearance in text: NLRP12: 1206C>G; F402L

PubMed Link: 27314497

Variant Present in the following documents:

• Main text
• pone.0156981.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: rs34971363

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: NLRP12: F402L

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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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: NLRP12: F402L; rs34971363

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 10
• pone.0123569.s008.xls, sheet 5

View BVdb publication page

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Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study.

Pediatric Rheumatology Online Journal

De Pieri, Carlo C; Vuch, Josef J; De Martino, Eleonora E; Bianco, Anna M AM; Ronfani, Luca L; Athanasakis, Emmanouil E; Bortot, Barbara B; Crovella, Sergio S; Taddio, Andrea A; Severini, Giovanni M GM; Tommasini, Alberto A

Publication Date: 2015

Variant appearance in text: NLRP12: F402L; rs34971363

PubMed Link: 25866490

Variant Present in the following documents:

• Main text
• 12969_2015_Article_6.pdf

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: NLRP12: F402L; rs34971363

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: NLRP12: F402L; rs34971363

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation.

Biodata Mining

Preeprem, Thanawadee T; Gibson, Greg G

Publication Date: 2013-12-23

Variant appearance in text: NLRP12: F402L

PubMed Link: 24365473

Variant Present in the following documents:

• 1756-0381-6-24-S2.xlsx, sheet 5

View BVdb publication page

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Caution Should be Used in the Recognition of Adult-Onset Autoinflammatory Disorders: Facts or Fiction?

Frontiers In Immunology

Cantarini, Luca L; Lucherini, Orso Maria OM; Rigante, Donato D

Publication Date: 2013

Variant appearance in text: NLRP12: F402L

PubMed Link: 23630527

Variant Present in the following documents:

• Main text
• fimmu-04-00096.pdf

View BVdb publication page

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The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Arthritis And Rheumatism

Aksentijevich, Ivona I; Putnam, Christopher D CD; Remmers, Elaine F EF; Mueller, James L JL; Le, Julie J; Kolodner, Richard D RD; Moak, Zachary Z; Chuang, Michael M; Austin, Frances F; Goldbach-Mansky, Raphaela R; Hoffman, Hal M HM; Kastner, Daniel L DL

Publication Date: 2007-04

Variant appearance in text: NALP12: F402L

PubMed Link: 17393462

Variant Present in the following documents:

• Main text

View BVdb publication page

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