Publications:

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Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Frontiers In Neurology

Bar, Omri O; Ebenau, Laurie L; Weiner, Kellee K; Mintz, Mark M; Boles, Richard G RG

Publication Date: 2023

Variant appearance in text: MEFV: Ile591Thr

PubMed Link: 37234784

Variant Present in the following documents:

• Main text
• fneur-14-1151835.pdf

View BVdb publication page

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Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX

Publication Date: 2023-01-24

Variant appearance in text: MEFV: 1772T>C; Ile591Thr

PubMed Link: 36693175

Variant Present in the following documents:

• ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3

View BVdb publication page

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Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.

Disease Markers

Perfilyeva, Anastassiya A; Bespalova, Kira K; Perfilyeva, Yuliya Y; Skvortsova, Liliya L; Musralina, Lyazzat L; Zhunussova, Gulnur G; Khussainova, Elmira E; Iskakova, Ulzhan U; Bekmanov, Bakhytzhan B; Djansugurova, Leyla L

Publication Date: 2022

Variant appearance in text: MEFV: 1772T>C; Ile591Thr; rs11466045

PubMed Link: 36199823

Variant Present in the following documents:

• DM2022-1509994.pdf

View BVdb publication page

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Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Journal Of Clinical Immunology

Kernan, Kate F KF; Ghaloul-Gonzalez, Lina L; Vockley, Jerry J; Lamb, Janette J; Hollingshead, Deborah D; Chandran, Uma U; Sethi, Rahil R; Park, Hyun-Jung HJ; Berg, Robert A RA; Wessel, David D; Pollack, Murray M MM; Meert, Kathleen L KL; Hall, Mark W MW; Newth, Christopher J L CJL; Lin, John C JC; Doctor, Allan A; Shanley, Tom T; Cornell, Tim T; Harrison, Rick E RE; Zuppa, Athena F AF; Banks, Russel R; Reeder, Ron W RW; Holubkov, Richard R; Notterman, Daniel A DA; Dean, J Michael JM; Carcillo, Joseph A JA

Publication Date: 2022-02

Variant appearance in text: MEFV: 1772T>C; Ile591Thr

PubMed Link: 34973142

Variant Present in the following documents:

• 10875_2021_1183_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: MEFV: I591T; rs11466045

PubMed Link: 34905135

Variant Present in the following documents:

• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Journal, Genetic Engineering & Biotechnology

Jain, Abhinav A; Bhoyar, Rahul C RC; Pandhare, Kavita K; Mishra, Anushree A; Sharma, Disha D; Imran, Mohamed M; Senthivel, Vigneshwar V; Divakar, Mohit Kumar MK; Rophina, Mercy M; Jolly, Bani B; Batra, Arushi A; Sharma, Sumit S; Siwach, Sanjay S; Jadhao, Arun G AG; Palande, Nikhil V NV; Jha, Ganga Nath GN; Ashrafi, Nishat N; Mishra, Prashant Kumar PK; A K, Vidhya V; Jain, Suman S; Dash, Debasis D; Kumar, Nachimuthu Senthil NS; Vanlallawma, Andrew A; Sarma, Ranjan Jyoti RJ; Chhakchhuak, Lalchhandama L; Kalyanaraman, Shantaraman S; Mahadevan, Radha R; Kandasamy, Sunitha S; B M, Pabitha P; Rajagopal, Raskin Erusan RE; Ramya J, Ezhil E; Devi P, Nirmala N; Bajaj, Anjali A; Gupta, Vishu V; Mathew, Samatha S; Goswami, Sangam S; Mangla, Mohit M; Prakash, Savinitha S; Joshi, Kandarp K; Meyakumla, ; S, Sreedevi S; Gajjar, Devarshi D; Soraisham, Ronibala R; Yadav, Rohit R; Devi, Yumnam Silla YS; Gupta, Aayush A; Mukerji, Mitali M; Ramalingam, Sivaprakash S; B K, Binukumar B; Scaria, Vinod V; Sivasubbu, Sridhar S

Publication Date: 2021-12-14

Variant appearance in text: MEFV: I591T; rs11466045

PubMed Link: 34905135

Variant Present in the following documents:

• 43141_2021_268_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Paradoxical Reaction in a Patient with Hidradenitis Suppurativa Undergoing Adalimumab Treatment.

Acta Dermato-Venereologica

Ikeya, Soichiro S; Takeichi, Takuya T; Taki, Tomoki T; Muro, Yoshinao Y; Ogi, Tomoo T; Akiyama, Masashi M

Publication Date: 2021-06-28

Variant appearance in text: MEFV: 1772T>C; Ile591Thr; rs11466045

PubMed Link: 34043022

Variant Present in the following documents:

• Main text
• ActaDV-101-6-667.pdf

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: MEFV: 1772T>C; I591T; rs11466045

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Clinical and psychological phenomenology of pain in autoinflammatory diseases.

Bmc Rheumatology

Mulazzani, Elisabeth E; Zolyniak, Nicole N; Noe, Elisabeth E; Mulazzani, Matthias M; Azad, Shahnaz Christina SC; Kümpfel, Tania T; Kraft, Eduard E

Publication Date: 2020-12-18

Variant appearance in text: MEFV: I591T

PubMed Link: 33334368

Variant Present in the following documents:

• Main text
• 41927_2020_Article_168.pdf

View BVdb publication page

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Colchicine treatment in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: A multicenter study in Spain.

European Journal Of Rheumatology

Quintana-Ortega, Cristian C; Seoane-Reula, Elena E; Fernández, Laura L; Camacho, Marisol M; Olbrich, Peter P; Neth, Olaf O; Murias, Sara S; Udaondo, Clara C; Remesal, Agustín A; Calvo, Cristina C; Alcobendas, Rosa R

Publication Date: 2020-09-18

Variant appearance in text: MEFV: I591T

PubMed Link: 32966191

Variant Present in the following documents:

• Main text
• ejr-8-2-73.pdf

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: MEFV: I591T

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis.

Pediatric Rheumatology Online Journal

Zhong, Linqing L; Wang, Wei W; Li, Ji J; Ma, Mingsheng M; Gou, Lijuan L; Wang, Changyan C; Yu, Zhongxun Z; Zhang, Tiannan T; Dong, Yanqing Y; Wei, Qijiao Q; Song, Hongmei H

Publication Date: 2020-05-12

Variant appearance in text: MEFV: I591T; rs11466045

PubMed Link: 32398039

Variant Present in the following documents:

• 12969_2020_427_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Familial Mediterranean fever in Jordanian Children: single centre experience.

Mediterranean Journal Of Rheumatology

Alzyoud, Raed R; Alsweiti, Motasem M; Maittah, Hiba H; Zreqat, Ehab E; Alwahadneh, Adel A; Abu-Shukair, Mohammed M; Habahbeh, Lana L; Mutereen, Mohammed M

Publication Date: 2018-12

Variant appearance in text: MEFV: I591T

PubMed Link: 32185329

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation

Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L

Publication Date: 2019

Variant appearance in text: MEFV: 1772T>C; rs11466045

PubMed Link: 32082075

Variant Present in the following documents:

• Main text
• MI2019-3293145.pdf

View BVdb publication page

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Severe FMF Presentation with Rare Association of MEFV Variants (p.Pro369Ser/p.Glu148Gln).

European Journal Of Case Reports In Internal Medicine

El Alaoui, Kenza K; Papaleo, Alberto A

Publication Date: 2019

Variant appearance in text: MEFV: I591T

PubMed Link: 31742197

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

Jama Network Open

McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D

Publication Date: 2019-10-02

Variant appearance in text: MEFV: 1772T>C

PubMed Link: 31664448

Variant Present in the following documents:

• jamanetwopen-2-e1914274-s001.pdf

View BVdb publication page

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Update on the management of colchicine resistant Familial Mediterranean Fever (FMF).

Orphanet Journal Of Rare Diseases

El Hasbani, Georges G; Jawad, Ali A; Uthman, Imad I

Publication Date: 2019-10-15

Variant appearance in text: FMF: I591T

PubMed Link: 31615541

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1201.pdf

View BVdb publication page

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Inflammasomes in the pathophysiology of autoinflammatory syndromes.

Journal Of Leukocyte Biology

Tartey, Sarang S; Kanneganti, Thirumala-Devi TD

Publication Date: 2020-03

Variant appearance in text: FMF: I591T

PubMed Link: 31608507

Variant Present in the following documents:

• Main text

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: MEFV: I591T; rs11466045

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Scientific Reports

Vidmar, Lovro L; Maver, Ales A; Drulović, Jelena J; Sepčić, Juraj J; Novaković, Ivana I; Ristič, Smiljana S; Šega, Saša S; Peterlin, Borut B

Publication Date: 2019-06-24

Variant appearance in text: MEFV: 1772T>C; Ile591Thr; rs11466045

PubMed Link: 31235738

Variant Present in the following documents:

• 41598_2019_45598_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mechanisms of Inflammation in Neutrophil-Mediated Skin Diseases.

Frontiers In Immunology

Marzano, Angelo V AV; Ortega-Loayza, Alex G AG; Heath, Michael M; Morse, Daniel D; Genovese, Giovanni G; Cugno, Massimo M

Publication Date: 2019

Variant appearance in text: MEFV: I591T

PubMed Link: 31139187

Variant Present in the following documents:

• Main text
• fimmu-10-01059.pdf

View BVdb publication page

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Behçet's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes.

Scientific Reports

Burillo-Sanz, Sergio S; Montes-Cano, Marco-Antonio MA; García-Lozano, José-Raúl JR; Olivas-Martínez, Israel I; Ortego-Centeno, Norberto N; García-Hernández, Francisco-José FJ; Espinosa, Gerard G; Graña-Gil, Genaro G; Sánchez-Bursón, Juan J; Juliá, María Rosa MR; Solans, Roser R; Blanco, Ricardo R; Barnosi-Marín, Ana-Celia AC; Gómez de la Torre, Ricardo R; Fanlo, Patricia P; Rodríguez-Carballeira, Mónica M; Rodríguez-Rodríguez, Luis L; Camps, Teresa T; Castañeda, Santos S; Alegre-Sancho, Juan-Jose JJ; Martín, Javier J; González-Escribano, María Francisca MF

Publication Date: 2019-02-26

Variant appearance in text: MEFV: Ile591Thr

PubMed Link: 30808881

Variant Present in the following documents:

• Main text
• 41598_2019_Article_39113.pdf

View BVdb publication page

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SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study.

Plos One

Zhang, Zhifang Z; Feng, Jinong J; Mao, Allen A; Le, Keith K; La Placa, Deirdre D; Wu, Xiwei X; Longmate, Jeffrey J; Marek, Claudia C; St Amand, R Paul RP; Neuhausen, Susan L SL; Shively, John E JE

Publication Date: 2018

Variant appearance in text: MEFV: I591T

PubMed Link: 29927949

Variant Present in the following documents:

• Main text
• pone.0198625.pdf

View BVdb publication page

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The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Journal Of Clinical Medicine

Gumus, Evren E

Publication Date: 2018-05-07

Variant appearance in text: MEFV: I591T

PubMed Link: 29735907

Variant Present in the following documents:

• Main text
• jcm-07-00105.pdf

View BVdb publication page

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Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.

Molecular Genetics & Genomic Medicine

Moradian, Mike M MM; Babikyan, Davit D; Banoian, Dion D; Hayrapetyan, Hasmik H; Manvelyan, Hakob H; Avanesian, Nareh N; Sarkisian, Tamara T

Publication Date: 2017-11

Variant appearance in text: FMF: 1772T>C; rs11466045

PubMed Link: 29178647

Variant Present in the following documents:

• Main text
• MGG3-5-742.pdf

View BVdb publication page

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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Orphanet Journal Of Rare Diseases

Papa, Riccardo R; Doglio, Matteo M; Lachmann, Helen J HJ; Ozen, Seza S; Frenkel, Joost J; Simon, Anna A; Neven, Bénédicte B; Kuemmerle-Deschner, Jasmin J; Ozgodan, Huri H; Caorsi, Roberta R; Federici, Silvia S; Finetti, Martina M; Trachana, Maria M; Brunner, Jurgen J; Bezrodnik, Liliana L; Pinedo Gago, Mari Carmen MC; Maggio, Maria Cristina MC; Tsitsami, Elena E; Al Suwairi, Wafaa W; Espada, Graciela G; Shcherbina, Anna A; Aksu, Guzide G; Ruperto, Nicolino N; Martini, Alberto A; Ceccherini, Isabella I; Gattorno, Marco M; ,

Publication Date: 2017-10-18

Variant appearance in text: FMF: I591T

PubMed Link: 29047407

Variant Present in the following documents:

• Main text
• 13023_2017_Article_720.pdf

View BVdb publication page

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Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.

Scientific Reports

Burillo-Sanz, Sergio S; Montes-Cano, Marco-Antonio MA; García-Lozano, José-Raúl JR; Ortiz-Fernández, Lourdes L; Ortego-Centeno, Norberto N; García-Hernández, Francisco-José FJ; Espinosa, Gerard G; Graña-Gil, Genaro G; Sánchez-Bursón, Juan J; Rosa Juliá, María M; Solans, Roser R; Blanco, Ricardo R; Barnosi-Marín, Ana-Celia AC; Gómez De la Torre, Ricardo R; Fanlo, Patricia P; Rodríguez-Carballeira, Mónica M; Rodríguez-Rodríguez, Luis L; Camps, Teresa T; Castañeda, Santos S; Alegre-Sancho, Juan-Jose JJ; Martín, Javier J; González-Escribano, María Francisca MF

Publication Date: 2017-08-16

Variant appearance in text: MEFV: Ile591Thr

PubMed Link: 28814775

Variant Present in the following documents:

• Main text
• 41598_2017_Article_9164.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: MEFV: 1772T>C; Ile591Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: MEFV: I591T; rs11466045

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

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: MEFV: Ile591Thr

PubMed Link: 28421071

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.

Frontiers In Immunology

Özen, Seza S; Batu, Ezgi Deniz ED; Demir, Selcan S

Publication Date: 2017

Variant appearance in text: MEFV: I591T

PubMed Link: 28386255

Variant Present in the following documents:

• Main text

View BVdb publication page

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The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases.

Frontiers In Immunology

de Torre-Minguela, Carlos C; Mesa Del Castillo, Pablo P; Pelegrín, Pablo P

Publication Date: 2017

Variant appearance in text: FMF: I591T

PubMed Link: 28191008

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common Variable Immunodeficiency patients with a phenotypic profile of immunosenescence present with thrombocytopenia.

Scientific Reports

Stuchlý, Jan J; Kanderová, Veronika V; Vlková, Marcela M; Heřmanová, Ivana I; Slámová, Lucie L; Pelák, Ondřej O; Taraldsrud, Eli E; Jílek, Dalibor D; Králíc Ková, Pavlína P; Fevang, Børre B; Trková, Marie M; Hrušák, Ondřej O; Froňková, Eva E; Šedivá, Anna A; Litzman, Jiří J; Kalina, Tomáš T

Publication Date: 2017-01-05

Variant appearance in text: MEFV: I591T

PubMed Link: 28054583

Variant Present in the following documents:

• Main text
• srep39710.pdf

View BVdb publication page

---

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Bladder Cancer (Amsterdam, Netherlands)

Hoffmann, Michèle J MJ; Koutsogiannouli, Evangelia E; Skowron, Margaretha A MA; Pinkerneil, Maria M; Niegisch, Günter G; Brandt, Artur A; Stepanow, Stefanie S; Rieder, Harald H; Schulz, Wolfgang A WA

Publication Date: 2016-10-27

Variant appearance in text: MEFV: I591T; rs11466045

PubMed Link: 28035326

Variant Present in the following documents:

• blc-2-blc160065-s001.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: MEFV: I591T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

---

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: MEFV: I591T; rs11466045

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: MEFV: I591T; rs11466045

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clinical Immunology (Orlando, Fla.)

Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY

Publication Date: 2016-02

Variant appearance in text: MEFV: 1772T>C; Ile591Thr; rs11466045

PubMed Link: 26680607

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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: rs11466045

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The Pathogenesis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome: A Review of Current Research.

Mediators Of Inflammation

Kraszewska-Głomba, Barbara B; Matkowska-Kocjan, Agnieszka A; Szenborn, Leszek L

Publication Date: 2015

Variant appearance in text: MEFV: I591T

PubMed Link: 26457006

Variant Present in the following documents:

• Main text

View BVdb publication page

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Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.

Molecular Genetics & Genomic Medicine

Fujikura, Kohei K

Publication Date: 2015-07

Variant appearance in text: FMF: Ile591Thr; rs11466045

PubMed Link: 26247045

Variant Present in the following documents:

• Main text

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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: MEFV: I591T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Crystal structure of TRIM20 C-terminal coiled-coil/B30.2 fragment: implications for the recognition of higher order oligomers.

Scientific Reports

Weinert, Christopher C; Morger, Damien D; Djekic, Aleksandra A; Grütter, Markus G MG; Mittl, Peer R E PR

Publication Date: 2015-06-04

Variant appearance in text: FMF: I591T

PubMed Link: 26043233

Variant Present in the following documents:

• Main text

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Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Scientific Reports

Di Gioia, Silvio Alessandro SA; Bedoni, Nicola N; von Scheven-Gête, Annette A; Vanoni, Federica F; Superti-Furga, Andrea A; Hofer, Michaël M; Rivolta, Carlo C

Publication Date: 2015-05-19

Variant appearance in text: FMF: I591T; rs11466045

PubMed Link: 25988833

Variant Present in the following documents:

• Main text

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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: MEFV: I591T; rs11466045

PubMed Link: 25866490

Variant Present in the following documents:

• Main text

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Clinical features and genetic background of the periodic Fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients.

Mediators Of Inflammation

Perko, Daša D; Debeljak, Maruša M; Toplak, Nataša N; Avčin, Tadej T

Publication Date: 2015

Variant appearance in text: MEFV: I591T

PubMed Link: 25821352

Variant Present in the following documents:

• Main text

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs11466045

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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Mixture SNPs effect on phenotype in genome-wide association studies.

Bmc Genomics

Wang, Ling L; Shen, Haipeng H; Liu, Hexuan H; Guo, Guang G

Publication Date: 2015-02-03

Variant appearance in text: rs11466045

PubMed Link: 25649116

Variant Present in the following documents:

• Main text

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Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases.

Medicine

Marzano, Angelo V AV; Ceccherini, Isabella I; Gattorno, Marco M; Fanoni, Daniele D; Caroli, Francesco F; Rusmini, Marta M; Grossi, Alice A; De Simone, Clara C; Borghi, Orietta M OM; Meroni, Pier Luigi PL; Crosti, Carlo C; Cugno, Massimo M

Publication Date: 2014-12

Variant appearance in text: FMF: I591T

PubMed Link: 25501066

Variant Present in the following documents:

• Main text
• medi-93-e187.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: MEFV: I591T; rs11466045

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Annals Of The Rheumatic Diseases

Shinar, Y Y; Obici, L L; Aksentijevich, I I; Bennetts, B B; Austrup, F F; Ceccherini, I I; Costa, J M JM; De Leener, A A; Gattorno, M M; Kania, U U; Kone-Paut, I I; Lezer, S S; Livneh, A A; Moix, I I; Nishikomori, R R; Ozen, S S; Phylactou, L L; Risom, L L; Rowczenio, D D; Sarkisian, T T; van Gijn, M E ME; Witsch-Baumgartner, M M; Morris, M M; Hoffman, H M HM; Touitou, I I; ,

Publication Date: 2012-10

Variant appearance in text: MEFV: I591T

PubMed Link: 22661645

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Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

Plos One

Feng, Jinong J; Zhang, Zhifang Z; Li, Wenyan W; Shen, Xiaoming X; Song, Wenjia W; Yang, Chunmei C; Chang, Frances F; Longmate, Jeffrey J; Marek, Claudia C; St Amand, R Paul RP; Krontiris, Theodore G TG; Shively, John E JE; Sommer, Steve S SS

Publication Date: 2009-12-30

Variant appearance in text: FMF: I591T; rs11466045

PubMed Link: 20041150

Variant Present in the following documents:

• Main text
• pone.0008480.pdf

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Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein.

Annals Of The Rheumatic Diseases

Ryan, J G JG; Masters, S L SL; Booty, M G MG; Habal, N N; Alexander, J D JD; Barham, B K BK; Remmers, E F EF; Barron, K S KS; Kastner, D L DL; Aksentijevich, I I

Publication Date: 2010-07

Variant appearance in text: MEFV: I591T

PubMed Link: 19934105

Variant Present in the following documents:

• Main text

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