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2023 2
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Page 1
Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.
Willett JDS, Waqas M, Choi Y, Ngai T, Mullin K, Tanzi RE, Prokopenko D. Willett JDS, et al. Alzheimers Dement. 2025 Feb;21(2):e14592. doi: 10.1002/alz.14592. Alzheimers Dement. 2025. PMID: 39998322 Free PMC article.
RESULTS: For clinically diagnosed AD, we identified 14 new loci-five common (FBN2/SCL27A6, AC090115.1, DYM, KCNG1/AL121785.1, TIAM1) and nine rare (VWA5B1, RNU6-755P/LMX1A, MOB1A, MORC1-AS1, LINC00989, PDE4D, RNU2-49P/CDO1, NEO1, and SLC35G3/AC022916.1). ...
RESULTS: For clinically diagnosed AD, we identified 14 new loci-five common (FBN2/SCL27A6, AC090115.1, DYM, KCNG1/AL121785.1, TIAM1) …
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Eur J Hum Genet. 2024 Oct;32(10):1291-1298. doi: 10.1038/s41431-023-01513-7. Epub 2023 Dec 20. Eur J Hum Genet. 2024. PMID: 38114583 Free PMC article.
Pathogenic variants were identified in CREBBP, TSC2, KMT2D, MECP2, IDS, NIPBL, NSD1, RIT1, SOX10, BRWD3, FOXG1, BCL11A, KDM6B, KDM5C, SETD5, QRICH1, DCX, SMARCD1, ASXL1, ASXL3, AKT3, FBN2, TCF12, WASF1, BRAF, SMARCA4, SMARCA2, TUBG1, KMT2A, CTNNB1, DLG4, MEIS2, GATAD2B, FB …
Pathogenic variants were identified in CREBBP, TSC2, KMT2D, MECP2, IDS, NIPBL, NSD1, RIT1, SOX10, BRWD3, FOXG1, BCL11A, KDM6B, KDM5C, SETD5, …
Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena HI, De Backer J, Mosquera LM, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators; Milewicz DM, Prakash SK. Mansoorshahi S, et al. Am J Hum Genet. 2024 Oct 3;111(10):2219-2231. doi: 10.1016/j.ajhg.2024.08.001. Epub 2024 Sep 2. Am J Hum Genet. 2024. PMID: 39226896 Free PMC article.
After appropriate filtration, we also identified 129 variants in 54 candidate genes that are associated with autosomal-dominant congenital heart phenotypes, including recurrent deleterious variation of FBN2, MYH6, channelopathy genes, and type 1 and 5 collagen genes. These …
After appropriate filtration, we also identified 129 variants in 54 candidate genes that are associated with autosomal-dominant congenital h …
Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families.
Loid P, Wang F, Lennartsson O, Muurinen M, Costantini A, Vats S, Lodefalk M, Nilsson O, Mäkitie O. Loid P, et al. J Med Genet. 2025 Jun 24;62(7):436-440. doi: 10.1136/jmg-2024-110533. J Med Genet. 2025. PMID: 40199564
BACKGROUND: Fibrillinopathies comprise allelic disorders with opposing phenotypes. Pathogenic variants in fibrillin-2, encoded by FBN2, have mainly been associated with congenital contractural arachnodactyly but in a few cases also with brachydactyly. ...CONC …
BACKGROUND: Fibrillinopathies comprise allelic disorders with opposing phenotypes. Pathogenic variants in fibrillin-2, encoded …
Genetic Overlap of Thoracic Aortic Aneurysms and Intracranial Aneurysms.
Changez MIK, Nasir A, Sonsino A, Jeoffrey SM, Kalyanasundaram A, Zafar MA, Ziganshin BA, Elefteriades JA. Changez MIK, et al. Genes (Basel). 2025 Jan 26;16(2):154. doi: 10.3390/genes16020154. Genes (Basel). 2025. PMID: 40004483 Free PMC article. Review.
RESULTS: We identified 24 overlapping genes associated with TAA and ICA, including LTBP2, TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD2, SMAD3, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, FBN1, FBN2, ELN, LOX ACTA2, MYH11, MYLK, ABCC6, NOTCH1, MED12, PKD1, and PKD2. These genes are invo …
RESULTS: We identified 24 overlapping genes associated with TAA and ICA, including LTBP2, TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD2, SMAD3, COL1A2 …
Thoracic Aortic Disease in Patients With Heterozygous Variants Outside the Central Region of FBN2.
Demal TJ, Sachse M, Metzlaff C, Schüler H, Szöcs K, Olfe J, Stark V, Frommolt P, von Kodolitsch Y, Mir TS, Rybczynski M, Reichenspurner H, Kutsche K, Kubisch C, Detter C, Rosenberger G. Demal TJ, et al. Circ Genom Precis Med. 2025 Jun;18(3):e004672. doi: 10.1161/CIRCGEN.124.004672. Epub 2025 May 23. Circ Genom Precis Med. 2025. PMID: 40406865
Scarce data exist on the association between FBN2 variants and aortic disease. This study aimed to investigate whether the location of FBN2 variants correlates with distinct clinical features, including aortic disease. ...We summarized our results and published data …
Scarce data exist on the association between FBN2 variants and aortic disease. This study aimed to investigate whether the location o …
Embryonic reprogramming of the tumor vasculature reveals targets for cancer therapy.
Huijbers EJM, van Beijnum JR, van Loon K, Griffioen CJ, Volckmann R, Bassez A, Lambrechts D, Nunes Monteiro M, Jimenez CR, Hogendoorn PCW, Koster J, Griffioen AW. Huijbers EJM, et al. Proc Natl Acad Sci U S A. 2025 Mar 25;122(12):e2424730122. doi: 10.1073/pnas.2424730122. Epub 2025 Mar 17. Proc Natl Acad Sci U S A. 2025. PMID: 40096611 Free PMC article.
This approach identified among others the tumor endothelial antigens fibrillin-2 (Fbn2), elastin microfibril interface-located protein 2 (Emilin2) as well as the tumor endothelial antigens lysyl oxidase (Lox) and serine/cysteine protease inhibitor, clade E, m …
This approach identified among others the tumor endothelial antigens fibrillin-2 (Fbn2), elastin microfibril interface- …
Local Expression of Epigenetic Candidate Biomarkers of Adolescent Idiopathic Scoliosis Progression.
Neri S, Ruffilli A, Assirelli E, Manzetti M, Viroli G, Traversari M, Ialuna M, Naldi S, Ciaffi J, Ursini F, Faldini C. Neri S, et al. Int J Mol Sci. 2025 Aug 30;26(17):8453. doi: 10.3390/ijms26178453. Int J Mol Sci. 2025. PMID: 40943383 Free PMC article.
Compared to non-AIS tissues, AIS samples showed downregulation of PCDH10 and FBN2 in bone and CRTC1, FRZB, LRP6, and MSTN in muscle. WNT1 and WNT10 were upregulated in muscle and FBN1 in ligament. ...
Compared to non-AIS tissues, AIS samples showed downregulation of PCDH10 and FBN2 in bone and CRTC1, FRZB, LRP6, and MSTN in muscle. …
Identification of Therapeutic Targets in Autism Spectrum Disorder through CHD8-Notch Pathway Interaction Analysis.
Zhang H, Hua S, Jiao D, Chen D, Gu Q, Bao C. Zhang H, et al. PLoS One. 2025 Jun 17;20(6):e0325893. doi: 10.1371/journal.pone.0325893. eCollection 2025. PLoS One. 2025. PMID: 40526590 Free PMC article.
RESULTS: Seven hub genes-IGF2, FN1, CXCR4, COL11A1, ITGA6, LOX, and FBN2-were identified, all involved in the Notch signaling pathway and playing significant roles in neurodevelopment and extracellular matrix regulation. ...
RESULTS: Seven hub genes-IGF2, FN1, CXCR4, COL11A1, ITGA6, LOX, and FBN2-were identified, all involved in the Notch signaling pathway …
Congenital Diaphragmatic Hernia and Joint Laxity: A Putative Link with Heritable Connective Tissue Disorders.
Di Pede A, Magliozzi M, Valfré L, Dentici ML, Pugnaloni F, Alesi V, Conforti A, Capolupo I, Braguglia A, Dotta A, Bagolan P, Novelli A, Digilio MC. Di Pede A, et al. Genes (Basel). 2025 Sep 10;16(9):1066. doi: 10.3390/genes16091066. Genes (Basel). 2025. PMID: 41010011 Free PMC article.
Results: Genetic testing revealed variants in several genes across our patient series. These included mutations in FBN1, FBN2, ZNF469, VEGFA, NOTCH1, ELN, MCTP2, and SMAD6. In some cases, the variants were inherited paternally, while others appeared de novo. ...
Results: Genetic testing revealed variants in several genes across our patient series. These included mutations in FBN1, FBN2, ZNF469 …
25 results