Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2024 2
2025 5
2026 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. BMC Genomics. 2024 Jun 29;25(1):651. doi: 10.1186/s12864-024-10538-1. BMC Genomics. 2024. PMID: 38951798 Free PMC article.
Our PLS protein truncating variant collapsing analysis demonstrated significant case enrichment in ANTXR2 (p = 8.38 10(-6)). CONCLUSIONS: In a large multi-ethnic cohort of 6,970 ALS patients, collapsing analyses validated known ALS genes and identified a novel potentiall …
Our PLS protein truncating variant collapsing analysis demonstrated significant case enrichment in ANTXR2 (p = 8.38 10(-6)). CONCLU …
Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.
Manini A, Brusati A, Grassano M, Scacciatella G, Peverelli S, Spagliardi J, Pensato V, Doretti A, Vasta R, Manera U, Canosa A, Brunetti M, Gentilini D, Messina S, Verde F, Moglia C, Morelli C, Dalla Bella E, Keagle PJ, Landers JE, Gellera C, Lauria Pinter G, Chiò A, Ratti A, Calvo A, Silani V, Ticozzi N. Manini A, et al. J Neurol. 2025 Aug 22;272(9):587. doi: 10.1007/s00415-025-13328-1. J Neurol. 2025. PMID: 40844737
RESULTS: We identified mutations in 7 patients (13.7%), specifically SNVs in CAPN1 (Spastic paraplegia 76), TBK1 (amyotrophic lateral sclerosis/frontotemporal dementia, ALS4/FTD), LITAF (Charcot-Marie-Tooth disease 1C), POLG (chronic progressive external ophthalmoplegia), APP (Al …
RESULTS: We identified mutations in 7 patients (13.7%), specifically SNVs in CAPN1 (Spastic paraplegia 76), TBK1 (amyotrophic lateral sclero …
ITGB5-mediated biomechanical regulation in pancreatic ductal adenocarcinoma stroma impacts tumor progression and prognosis.
Yang A, Gu C, Liu Y, Luo B, Zeng Y, Zhou M, Li C, Pan C, Wu L, Hu Z, Zhang X, Gao F, Shi Y. Yang A, et al. J Transl Med. 2025 Oct 21;23(1):1150. doi: 10.1186/s12967-025-07119-5. J Transl Med. 2025. PMID: 41121153 Free PMC article.
RESULTS: In PDAC, increased stromal stiffness and poor prognosis are both strongly linked to activation of CAFs. WGCNA identified six hub genes-ANTXR2, ANXA1, BCAT1, PLAU, TGFbeta1, and ITGB5-which were used to construct a predictive model for estimating CAF abundance and …
RESULTS: In PDAC, increased stromal stiffness and poor prognosis are both strongly linked to activation of CAFs. WGCNA identified six hub ge …
Rare case of hyaline fibromatosis syndrome.
Gupta AK, Moriangthem A, Naranje K, Singh A. Gupta AK, et al. BMJ Case Rep. 2024 Nov 8;17(11):e260969. doi: 10.1136/bcr-2024-260969. BMJ Case Rep. 2024. PMID: 39521447
Clinical exome sequencing revealed homozygous novel missense variation in exon 3 of the anthrax toxin receptor 2 gene confirming the diagnosis....
Clinical exome sequencing revealed homozygous novel missense variation in exon 3 of the anthrax toxin receptor 2 …
A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia.
Tedja MS, Swierkowska-Janc J, Enthoven CA, Meester-Smoor MA, Hysi PG, Felix JF, Cowan CS; CREAM Consortium; Cherry TJ, van der Spek PJ, Ghanbari M, Erkeland SJ, Barakat TS, Klaver CCW, Verhoeven VJM. Tedja MS, et al. Hum Genet. 2025 Jan;144(1):67-91. doi: 10.1007/s00439-024-02721-x. Epub 2025 Jan 8. Hum Genet. 2025. PMID: 39774722 Free PMC article.
Pathways of target and host genes of highly ranked variants included eye development (BMP4, MPPED2), neurogenesis (DDIT4, NTM), extracellular matrix (ANTXR2, BMP3), photoreceptor metabolism (DNAJB12), photoreceptor morphogenesis (CHDR1), neural signaling (VIPR2) and TGF-be …
Pathways of target and host genes of highly ranked variants included eye development (BMP4, MPPED2), neurogenesis (DDIT4, NTM), extracellula …
Epigenome-wide analysis identifies DNA methylation mediators of treatment-related cardiometabolic risk in survivors of childhood cancer.
Eulalio T, Kim Y, Meng X, Plonski NM, Shelton K, Mulder H, Plyler E, Easton J, Chen X, Zhang J, Walker E, Neale G, Ni M, Lucas JT Jr, Chatterjee N, Wang Z, Srivastava D, Ky B, Dixon SB, Ness KK, Hudson MM, Armstrong GT, Wang Z. Eulalio T, et al. Nat Commun. 2026 Jan 23;17(1):1979. doi: 10.1038/s41467-026-68689-6. Nat Commun. 2026. PMID: 41577698 Free PMC article.
Notably, cg20370568, a cis-expression quantitative trait methylation site for ANTXR2, mediates 20% of the effect of body-trunk-radiotherapy on abnormal glucose. These findings suggest that prior genotoxic cancer treatments may become biologically embedded through DNAm vari …
Notably, cg20370568, a cis-expression quantitative trait methylation site for ANTXR2, mediates 20% of the effect of body-trunk-radiot …
Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype.
Akyon I, Ozen O, Dogan M, Turkoglu Z, Bastug D, Kusku Cabuk F, Gezdirici A. Akyon I, et al. Pediatr Dermatol. 2026 Jan-Feb;43(1):174-178. doi: 10.1111/pde.70027. Epub 2025 Sep 4. Pediatr Dermatol. 2026. PMID: 40907988
Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement in variable degrees. In this r …
Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is char …
The interaction of HT-2 toxin and Akt1 on gene expression regulation in Kashin-Beck disease pathogenesis.
Liao X, Yang X, Jia X, Zhang Q, Naren G, Zhang J, Niu H, Wei H, Wu C. Liao X, et al. Toxicon. 2025 Sep;264:108432. doi: 10.1016/j.toxicon.2025.108432. Epub 2025 May 29. Toxicon. 2025. PMID: 40449756 Free article.
Under, WGCNA, in the module most associated with HT-2, FRMD3B, ALDH1A3, ANTXR2, SERINC2 and SRGN were identified as hub genes; in the module most associated with siAkt1, TNFRSF11B, CECR2, TMOD1, ZNF704 and RHOBTB1 were identified as hub genes; in the module most associated …
Under, WGCNA, in the module most associated with HT-2, FRMD3B, ALDH1A3, ANTXR2, SERINC2 and SRGN were identified as hub genes; in the …