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Select item 111102831.

Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome

Ying Bai, Yue Sun, Chenguang Yu, Yanjie Xia, Jing Wu, Li Wang, Yong Gao, Xin Tu, Xiangdong Kong

Orphanet J Rare Dis. 2024; 19: 209. Published online 2024 May 21. doi: 10.1186/s13023-024-03139-4

PMCID:: PMC11110283

Abstract Article PDF–4.1M

Select item 110601582.

The correlation between serum asprosin and left ventricular diastolic dysfunction in elderly patients with type 2 diabetes mellitus in the community

Dong Liang, Guoliang Shi, Mingang Xu, Jianhong Yin, Yunfeng Liu, Jing Yang, Linxin Xu

J Diabetes Investig. 2024 May; 15(5): 608–613. Published online 2024 Feb 16. doi: 10.1111/jdi.14162

PMCID:: PMC11060158

Abstract Article PDF–335K

Select item 110415973.

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome

Pauline Arnaud, Zakaria Mougin, Genevieve Baujat, Valérie Drouin-Garraud, Salima El Chehadeh, Laurent Gouya, Sylvie Odent, Guillaume Jondeau, Catherine Boileau, Nadine Hanna, Carine Le Goff

J Med Genet. 2024 May; 61(5): 469–476. Published online 2024 Mar 8. doi: 10.1136/jmg-2023-109646

PMCID:: PMC11041597

Abstract Article PDF–1.5M

Select item 109108314.

Association of serum asprosin with metabolic dysfunction-associated fatty liver disease in older adult type 2 diabetic patients: a cross-sectional study

Junfang Cui, Yunfeng Liu, Mina Li, Jianhong Yin, Jing Yang, Linxin Xu

BMC Endocr Disord. 2024; 24: 27. Published online 2024 Mar 4. doi: 10.1186/s12902-024-01560-1

PMCID:: PMC10910831

Abstract Article PDF–991K

Select item 108403655.

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification

Xinxin Lu, Ren Wang, Mingjie Li, Biao Zhang, Huiying Rao, Xiaoli Huang, Xijun Chen, Yan’an Wu

BMC Med Genomics. 2024; 17: 47. Published online 2024 Feb 5. doi: 10.1186/s12920-024-01822-w

PMCID:: PMC10840365

Abstract Article PDF–2.5M

Select item 108296866.

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole‐genome sequencing

Jee Ah Kim, Mi‐Ae Jang, Shin Yi Jang, Duk‐Kyung Kim, Young‐gon Kim, Jong‐Won Kim, Taek Kyu Park, Ja‐Hyun Jang

J Clin Lab Anal. 2024 Jan; 38(1-2): e25009. Published online 2024 Jan 17. doi: 10.1002/jcla.25009

PMCID:: PMC10829686

Abstract Article PDF–2.8M

Select item 108138237.

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines

Seo Wan Kim, Boyeon Kim, Yoonjung Kim, Kyung-A Lee

Ann Lab Med. 2024 May 1; 44(3): 271–278. Published online 2023 Oct 16. doi: 10.3343/alm.2023.0152

PMCID:: PMC10813823

Abstract Article PDF–296K

Select item 107879078.

Salivary and serum asprosin hormone levels in the 2018 EFP/AAP classification of periodontitis stages and body mass index status: a case-control study

Sema Nur Sevinç Gül, Didem Özkal Eminoğlu, Esra Laloğlu, Tuğba Aydın, Alparslan Dilsiz

Clin Oral Investig. 2024; 28(1): 91. Published online 2024 Jan 13. doi: 10.1007/s00784-024-05494-9

PMCID:: PMC10787907

Abstract Article PDF–612K

Select item 107720709.

A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome

Elin Ola Klemenzdottir, Gudny Anna Arnadottir, Brynjar Orn Jensson, Adalbjorg Jonasdottir, Hildigunnur Katrinardottir, Run Fridriksdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Sigurjon Axel Gudjonsson, Jon Johannes Jonsson, Vigdis Stefansdottir, Ragnar Danielsen, Astridur Palsdottir, Hakon Jonsson, Agnar Helgason, Olafur Thor Magnusson, Unnur Thorsteinsdottir, Hans Tomas Bjornsson, Kari Stefansson, Patrick Sulem

Eur J Hum Genet. 2024 Jan; 32(1): 44–51. Published online 2023 Sep 8. doi: 10.1038/s41431-023-01455-0

PMCID:: PMC10772070

Abstract Article PDF–722K

Select item 1033728710.

Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature

Gergely Buki, Renata Szalai, Adrienn Pinter, Kinga Hadzsiev, Bela Melegh, Tibor Rauch, Judit Bene

Mol Genet Genomic Med. 2023 Jul; 11(7): e2166. Published online 2023 Mar 21. doi: 10.1002/mgg3.2166

PMCID:: PMC10337287

Abstract Article PDF–3.7M

Select item 1017879711.

Clinical and genetic findings in Chinese families with congenital ectopia lentis

Xin Liu, Liman Niu, Liyun Zhang, Liqiong Jiang, Kaiqing Liu, Xueping Wu, Xinhua Liu, Jiantao Wang

Mol Genet Genomic Med. 2023 May; 11(5): e2140. Published online 2023 Jan 20. doi: 10.1002/mgg3.2140

PMCID:: PMC10178797

Abstract Article PDF–9.6M

Select item 1017633012.

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

Alistair T Pagnamenta, Jing Yu, Julie Evans, Philip Twiss, Genomics England Research Consortium, Musculoskeletal GeCIP MDT, Amaka C Offiah, Mohamed Wafik, Sarju G Mehta, Mohammed K Javaid, Sarah F Smithson, Jenny C Taylor

J Med Genet. 2023 May; 60(5): 505–510. Published online 2022 Nov 21. doi: 10.1136/jmg-2022-108753

PMCID:: PMC10176330

Abstract Article PDF–3.6M

Select item 1015992013.

An FBN1 Deep Intronic Variant is Associated with Pseudoexon Formation and a Variable Marfan Phenotype in a Five Generation Family

Dong-chuan Guo, Xueyan Duan, Kathleen Mimnagh, Alana C. Cecchi, Isabella C. Marin, Yang Yu, Walter V. Torres, Kwanghyuk Lee, Xue Zhu, David R. Murdock, Suzanne M. Leal, Marsha M. Wheeler, Josh Smith, Michael J. Bamshad, Dianna M. Milewicz

Clin Genet. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Clin Genet. 2023 Jun; 103(6): 704–708. Published online 2023 Mar 7. doi: 10.1111/cge.14322

PMCID:: PMC10159920

Abstract Article PDF–541K

Select item 1005415014.

Fibrillin-1 mutation contributes to Marfan syndrome by inhibiting Cav1.2-mediated cell proliferation in vascular smooth muscle cells

Wenfeng Lin, Jiaqi Xiong, Yefan Jiang, Hao Liu, Jinhui Bian, Juejin Wang, Yongfeng Shao, Buqing Ni

Channels (Austin) 2023; 17(1): 2192377. Published online 2023 Mar 27. doi: 10.1080/19336950.2023.2192377

PMCID:: PMC10054150

Abstract Article PDF–5.7M

Select item 985417315.

No differences in FBN1 genotype between men with and without abdominal aortic aneurysm

Ida Åström Malm, Rachel De Basso, Peter Blomstrand

BMC Cardiovasc Disord. 2023; 23: 36. Published online 2023 Jan 20. doi: 10.1186/s12872-023-03068-3

PMCID:: PMC9854173

Abstract Article PDF–741K

Select item 981109316.

Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome

Yuki Taniguchi, Norifumi Takeda, Ryo Inuzuka, Yoshitaka Matsubayashi, So Kato, Toru Doi, Hiroki Yagi, Haruo Yamauchi, Masahiko Ando, Yasushi Oshima, Sakae Tanaka

J Med Genet. 2023 Jan; 60(1): 74–80. Published online 2021 Dec 16. doi: 10.1136/jmedgenet-2021-108186

PMCID:: PMC9811093

Abstract Article PDF–502K

Select item 968570417.

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

Zexu Chen, Tianhui Chen, Min Zhang, Jiahui Chen, Michael Deng, Jialei Zheng, Li-Na Lan, Yongxiang Jiang

Br J Ophthalmol. 2022 Dec; 106(12): 1655–1661. Published online 2021 Jul 19. doi: 10.1136/bjophthalmol-2021-319084

PMCID:: PMC9685704

Abstract Article PDF–2.2M

Select item 957335818.

Apelin-13 and Asprosin in Adolescents with Anorexia Nervosa and Their Association with Psychometric and Metabolic Variables

Katarzyna Jowik, Monika Dmitrzak-Węglarz, Natalia Pytlińska, Anna Jasińska-Mikołajczyk, Agnieszka Słopień, Marta Tyszkiewicz-Nwafor

Nutrients. 2022 Oct; 14(19): 4022. Published online 2022 Sep 28. doi: 10.3390/nu14194022

PMCID:: PMC9573358

Abstract Article PDF–605K

Select item 934857619.

Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease

Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel

Life Sci Alliance. 2022 Dec; 5(12): e202101205. Published online 2022 Aug 1. doi: 10.26508/lsa.202101205

PMCID:: PMC9348576

Abstract Article PDF–3.0M

Select item 932244720.

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

Silke Peeters, Pauline De Kinderen, Josephina A. N. Meester, Aline Verstraeten, Bart L. Loeys

Hum Mutat. 2022 Jul; 43(7): 815–831. Published online 2022 Apr 28. doi: 10.1002/humu.24383

PMCID:: PMC9322447

Abstract Article PDF–1.8M

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