Publications:

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Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1.

Frontiers In Genetics

Liu, Xin X; Liu, Kaiqing K; Nie, Danyao D; Zhang, Jing J; Zhang, Liyun L; Liu, Xinhua X; Wang, Jiantao J

Publication Date: 2022

Variant appearance in text: FBN1: R2726W

PubMed Link: 36035136

Variant Present in the following documents:

• fgene-13-928683.pdf

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Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study.

Bmc Musculoskeletal Disorders

de Azevedo, Gustavo Borges Laurindo GBL; Perini, Jamila Alessandra JA; Araújo Junior, Antônio Eulálio Pedrosa AEP; Moliterno, Luis Antonio Medeiros LAM; Andrande, Rodrigo Mantelatto RM; Guimarães, João Antonio Matheus JAM; Defino, Helton Luiz Aparecido HLA

Publication Date: 2022-05-07

Variant appearance in text: FBN1: R2726W

PubMed Link: 35526034

Variant Present in the following documents:

• 12891_2022_Article_5370.pdf

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: FBN1: 8176C>T; Arg2726Trp; rs61746008

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 3
• mmc5.xlsx, sheet 1

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Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Plos One

Jensen, Sacha A SA; Atwa, Ondine O; Handford, Penny A PA

Publication Date: 2021

Variant appearance in text: FBN1: R2726W

PubMed Link: 33735269

Variant Present in the following documents:

• Main text
• pone.0248532.pdf

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Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Scientific Reports

Nayak, Shalini S SS; Schneeberger, Pauline E PE; Patil, Siddaramappa J SJ; Arun, Karegowda M KM; Suresh, Pujar V PV; Kiran, Viralam S VS; Siddaiah, Sateesh S; Maiya, Shreesha S; Venkatachalagupta, Shrikanth K SK; Kausthubham, Neethukrishna N; Kortüm, Fanny F; Rau, Isabella I; Wey-Fabrizius, Alexandra A; Van Den Heuvel, Lotte L; Meester, Josephina J; Van Laer, Lut L; Shukla, Anju A; Loeys, Bart B; Girisha, Katta M KM; Kutsche, Kerstin K

Publication Date: 2021-01-12

Variant appearance in text: FBN1: Arg2726Trp

PubMed Link: 33436942

Variant Present in the following documents:

• Main text
• 41598_2020_Article_80755.pdf

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An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene.

Clinical Case Reports

Daneshjoo, Omid O; Salehi, Leila B LB; Pizzuti, Antonio A; Novelli, Giuseppe G; Sangiuolo, Federica F

Publication Date: 2020-08

Variant appearance in text: FBN1: R2726W

PubMed Link: 32884772

Variant Present in the following documents:

• CCR3-8-1445.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: FBN1: R2726W

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 31

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The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Orphanet Journal Of Rare Diseases

Becerra-Muñoz, Víctor Manuel VM; Gómez-Doblas, Juan José JJ; Porras-Martín, Carlos C; Such-Martínez, Miguel M; Crespo-Leiro, María Generosa MG; Barriales-Villa, Roberto R; de Teresa-Galván, Eduardo E; Jiménez-Navarro, Manuel M; Cabrera-Bueno, Fernando F

Publication Date: 2018-01-22

Variant appearance in text: FBN1: 8176C>T; Arg2726Trp

PubMed Link: 29357934

Variant Present in the following documents:

• Main text
• 13023_2017_Article_754.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 8176C>T; Arg2726Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: FBN1: R2726W; rs61746008

PubMed Link: 28569218

Variant Present in the following documents:

• 13058_2017_854_MOESM3_ESM.xlsx, sheet 2

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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: FBN1: R2726W; rs61746008

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: FBN1: 8176C>T; R2726W; rs61746008

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

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FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

Gene

Sakai, Lynn Y LY; Keene, Douglas R DR; Renard, Marjolijn M; De Backer, Julie J

Publication Date: 2016-10-10

Variant appearance in text: FBN1: R2726W

PubMed Link: 27437668

Variant Present in the following documents:

• Main text

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Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions.

Molecular Genetics And Metabolism

Davis, Margaret R MR; Arner, Erik E; Duffy, Cairnan R E CR; De Sousa, Paul A PA; Dahlman, Ingrid I; Arner, Peter P; Summers, Kim M KM

Publication Date: 2016-09

Variant appearance in text: FBN1: R2726W

PubMed Link: 27386756

Variant Present in the following documents:

• Main text

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Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Bmc Musculoskeletal Disorders

Reyes-Hernández, Octavio D OD; Palacios-Reyes, Carmen C; Chávez-Ocaña, Sonia S; Cortés-Malagón, Enoc M EM; Alonso-Themann, Patricia Garcia PG; Ramos-Cano, Víctor V; Ramírez-Bello, Julián J; Sierra-Martínez, Mónica M

Publication Date: 2016-02-15

Variant appearance in text: FBN1: R2726W; rs61746008

PubMed Link: 26875674

Variant Present in the following documents:

• Main text
• 12891_2016_Article_935.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: rs61746008

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: FBN1: 8176C>T; Arg2726Trp; rs61746008

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

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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: FBN1: R2726W

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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C-terminal propeptide is required for fibrillin-1 secretion and blocks premature assembly through linkage to domains cbEGF41-43.

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

Jensen, Sacha A SA; Aspinall, Georgia G; Handford, Penny A PA

Publication Date: 2014-07-15

Variant appearance in text: FBN1: R2726W

PubMed Link: 24982166

Variant Present in the following documents:

• Main text

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New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Bmc Genetics

Yang, Ren-Qiang RQ; Jabbari, Javad J; Cheng, Xiao-Shu XS; Jabbari, Reza R; Nielsen, Jonas B JB; Risgaard, Bjarke B; Chen, Xu X; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper Hastrup JH; Olesen, Morten S MS; Tfelt-Hansen, Jacob J

Publication Date: 2014-06-18

Variant appearance in text: FBN1: 8176C>T; R2726W; rs61746008

PubMed Link: 24941995

Variant Present in the following documents:

• Main text
• 1471-2156-15-74.pdf

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Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome.

Bmc Medical Genetics

Pepe, Guglielmina G; Nistri, Stefano S; Giusti, Betti B; Sticchi, Elena E; Attanasio, Monica M; Porciani, Cristina C; Abbate, Rosanna R; Bonow, Robert O RO; Yacoub, Magdi M; Gensini, Gian Franco GF

Publication Date: 2014-02-24

Variant appearance in text: FBN1: 8176C>T; Arg2726Trp; rs61746008

PubMed Link: 24564502

Variant Present in the following documents:

• Main text
• 1471-2350-15-23.pdf

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: FBN1: R2726W

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

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High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.

The Journal Of Allergy And Clinical Immunology

Abonia, J Pablo JP; Wen, Ting T; Stucke, Emily M EM; Grotjan, Tommie T; Griffith, Molly S MS; Kemme, Katherine A KA; Collins, Margaret H MH; Putnam, Philip E PE; Franciosi, James P JP; von Tiehl, Karl F KF; Tinkle, Brad T BT; Marsolo, Keith A KA; Martin, Lisa J LJ; Ware, Stephanie M SM; Rothenberg, Marc E ME

Publication Date: 2013-08

Variant appearance in text: FBN1: 8176C>T; Arg2726Trp

PubMed Link: 23608731

Variant Present in the following documents:

• Main text

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A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression.

Plos One

Lima, Bruno L BL; Santos, Enrico J C EJ; Fernandes, Gustavo R GR; Merkel, Christian C; Mello, Marco R B MR; Gomes, Juliana P A JP; Soukoyan, Marina M; Kerkis, Alexandre A; Massironi, Silvia M G SM; Visintin, José A JA; Pereira, Lygia V LV

Publication Date: 2010-11-30

Variant appearance in text: FBN1: R2726W

PubMed Link: 21152435

Variant Present in the following documents:

• pone.0014136.pdf

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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

European Journal Of Human Genetics : Ejhg

Stheneur, Chantal C; Collod-Béroud, Gwenaëlle G; Faivre, Laurence L; Buyck, Jean François JF; Gouya, Laurent L; Le Parc, Jean-Marie JM; Moura, Bertrand B; Muti, Christine C; Grandchamp, Bernard B; Sultan, Gilles G; Claustres, Mireille M; Aegerter, Philippe P; Chevallier, Bertrand B; Jondeau, Guillaume G; Boileau, Catherine C

Publication Date: 2009-09

Variant appearance in text: FBN1: 8176C>T

PubMed Link: 19293843

Variant Present in the following documents:

• Main text

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The molecular genetics of Marfan syndrome and related disorders.

Journal Of Medical Genetics

Robinson, P N PN; Arteaga-Solis, E E; Baldock, C C; Collod-Béroud, G G; Booms, P P; De Paepe, A A; Dietz, H C HC; Guo, G G; Handford, P A PA; Judge, D P DP; Kielty, C M CM; Loeys, B B; Milewicz, D M DM; Ney, A A; Ramirez, F F; Reinhardt, D P DP; Tiedemann, K K; Whiteman, P P; Godfrey, M M

Publication Date: 2006-10

Variant appearance in text: FBN1: R2726W

PubMed Link: 16571647

Variant Present in the following documents:

• Main text

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