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Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.

• Authors : Han D; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.; Wang Z

Subjects: Marfan Syndrome*/Marfan Syndrome*/Marfan Syndrome*/genetics ; Marfan Syndrome*/Marfan Syndrome*/Marfan Syndrome*/pathology ; Fibrillin-1*/Fibrillin-1*/Fibrillin-1*/genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jul; Vol. 12 (7), pp. e2482.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Co-existence of Marfan syndrome and systemic sclerosis: A case report and a hypothesis suggesting a common link.

• Authors : Yap WF; Rheumatology Unit, Department of Medicine, Hospital Melaka, Melaka, Malaysia.; Chong HC

Subjects: Mutation*; Fibrillin-1/Fibrillin-1/Fibrillin-1/*genetics ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*complications

• Source: International journal of rheumatic diseases [Int J Rheum Dis] 2020 Nov; Vol. 23 (11), pp. 1568-1573. Date of Electronic Publication: 2020 Sep 24.Publisher: Wiley on behalf of the Asia Pacific League of Associations for Rheumatology Country of Publication: England NLM ID: 101474930 Publication Model:

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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.

• Authors : Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.; Schneeberger PE

Subjects: Mutation*; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics ; Fibrillin-1/Fibrillin-1/Fibrillin-1/*genetics

• Source: Scientific reports [Sci Rep] 2021 Jan 12; Vol. 11 (1), pp. 764. Date of Electronic Publication: 2021 Jan 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Morphological and genetic aspects of Marfan Syndrome as demonstrated by a case of death during pregnancy with the discovery of two de novo missense mutations in the FBN1 gene.

• Authors : Aquila, Isabella¹ ; Sacco, Matteo Antonio¹; Boca, Silvia²

• Source: Anthropological Review. 2023, Vol. 86 Issue 4, p63-70. 8p.

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Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome.

• Authors : Aalders J; Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Corneel Heymanslaan 10, Building B, Entrance 36, 9000, Ghent, Belgium.; Léger L

Subjects: Mutation*; Fibrillins/Fibrillins/Fibrillins/*genetics ; Induced Pluripotent Stem Cells/Induced Pluripotent Stem Cells/Induced Pluripotent Stem Cells/*metabolism

• Source: Scientific reports [Sci Rep] 2020 Oct 07; Vol. 10 (1), pp. 16756. Date of Electronic Publication: 2020 Oct 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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DNA methylation ambiguity in the Fibrillin-1 (FBN1) CpG island shore possibly involved in Marfan syndrome.

• Authors : Arai Y; Laboratory of Veterinary Biochemistry and Molecular Biology, Faculty of Agriculture, University of Miyazaki, Miyazaki, 889-2192, Japan.; Umeyama K

Subjects: CpG Islands* ; DNA Methylation* ; Gene Expression Regulation*

• Source: Scientific reports [Sci Rep] 2020 Mar 24; Vol. 10 (1), pp. 5287. Date of Electronic Publication: 2020 Mar 24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.

• Authors : Lima, Felipe L.¹ (AUTHOR); Cronemberger, Sebastião¹ (AUTHOR); Albuquerque, Anna L. B.² (AUTHOR)

• Source: Ophthalmic Genetics. Aug2023, Vol. 44 Issue 4, p366-370. 5p.

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Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families.

• Authors : Gong B; Sichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.; Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.

Subjects: Genetic Carrier Screening* ; Mutation*; Fibrillin-1/Fibrillin-1/Fibrillin-1/*genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Apr; Vol. 7 (4), pp. e00594. Date of Electronic Publication: 2019 Mar 05.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Steered molecular dynamic simulations reveal Marfan syndrome mutations disrupt fibrillin-1 cbEGF domain mechanosensitive calcium binding.

• Authors : Haller SJ; Holland Regenerative Medicine Program, Department of Genetics, Cell Biology and Anatomy, University of Nebraska Medical Center, 985965 NE Medical Center, 6064 DRCII, Omaha, NE, 68198-5965, USA.; Roitberg AE

Subjects: Molecular Dynamics Simulation* ; Mutation* ; Protein Domains*

• Source: Scientific reports [Sci Rep] 2020 Oct 08; Vol. 10 (1), pp. 16844. Date of Electronic Publication: 2020 Oct 08.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Morphological and genetic aspects of Marfan Syndrome as demonstrated by a case of death during pregnancy with the discovery of two de novo missense mutations in the FBN1 gene

• Authors : Isabella Aquila; Matteo Antonio Sacco; Silvia Boca

Subjects: marfan syndrome; genes; mutation

• Source: Anthropological Review, Vol 86, Iss 4, Pp 63-70 (2023)

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