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Items: 1 to 20 of 201

1.
A Novel Heterozygous Intronic FBN1 Variant Contributes to Aberrant RNA Splicing in Marfan Syndrome
Djouhayna Dougarem, Yi‐Xiao Chen, Yi‐Na Sun, He‐Feng Huang, Qiong Luo
Mol Genet Genomic Med. 2024 Sep; 12(9): e70004. Published online 2024 Sep 2. doi: 10.1002/mgg3.70004
PMCID:
PMC11366968
AbstractArticlePDF–1.1M
2.
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
AbstractArticlePDF–4.1M
3.
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
AbstractArticlePDF–335K
4.
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
AbstractArticlePDF–1.5M
5.
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
AbstractArticlePDF–991K
6.
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
AbstractArticlePDF–2.5M
7.
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
AbstractArticlePDF–2.8M
8.
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
AbstractArticlePDF–296K
9.
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
AbstractArticlePDF–612K
10.
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
AbstractArticlePDF–722K
11.
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
AbstractArticlePDF–3.7M
12.
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
AbstractArticlePDF–9.6M
13.
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
AbstractArticlePDF–3.6M
14.
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
AbstractArticlePDF–541K
15.
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
AbstractArticlePDF–5.7M
16.
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
AbstractArticlePDF–741K
17.
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
AbstractArticlePDF–502K
18.
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
AbstractArticlePDF–2.2M
19.
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
AbstractArticlePDF–605K
20.
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
AbstractArticlePDF–3.0M

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