Publications:

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Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance.

Frontiers In Genetics

Chen, Ze-Xu ZX; Jia, Wan-Nan WN; Jiang, Yong-Xiang YX

Publication Date: 2022

Variant appearance in text: FBN1: C1977R

PubMed Link: 36176293

Variant Present in the following documents:

• fgene-13-943083.pdf

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The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.

Human Mutation

Peeters, Silke S; De Kinderen, Pauline P; Meester, Josephina A N JAN; Verstraeten, Aline A; Loeys, Bart L BL

Publication Date: 2022-07

Variant appearance in text: FBN1: C1977R

PubMed Link: 35419902

Variant Present in the following documents:

• HUMU-43-815.pdf

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Cysteine Substitution and Calcium-Binding Mutations in FBN1 cbEGF-Like Domains Are Associated With Severe Ocular Involvement in Patients With Congenital Ectopia Lentis.

Frontiers In Cell And Developmental Biology

Zhang, Min M; Chen, Zexu Z; Chen, Tianhui T; Sun, Xiaodong X; Jiang, Yongxiang Y

Publication Date: 2021

Variant appearance in text: FBN1: C1977R

PubMed Link: 35237611

Variant Present in the following documents:

• fcell-09-816397.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: FBN1: 5929T>C; Cys1977Arg

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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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: FBN1: 5929T>C; Cys1977Arg

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure.

The Canadian Journal Of Cardiology

Karimi, Ashkan A; Milewicz, Dianna M DM

Publication Date: 2016-01

Variant appearance in text: FBN1: C1977R

PubMed Link: 26724508

Variant Present in the following documents:

• Main text

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Induction of macrophage chemotaxis by aortic extracts from patients with Marfan syndrome is related to elastin binding protein.

Plos One

Guo, Gao G; Gehle, Petra P; Doelken, Sandra S; Martin-Ventura, José Luis JL; von Kodolitsch, Yskert Y; Hetzer, Roland R; Robinson, Peter N PN

Publication Date: 2011

Variant appearance in text: FBN1: C1977R

PubMed Link: 21647416

Variant Present in the following documents:

• pone.0020138.pdf

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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: C1977R

PubMed Link: 16571647

Variant Present in the following documents:

• Main text

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