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Year Number of Results
2010 4
2011 2
2012 2
2014 1
2015 3
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2019 2
2020 1
2021 1
2022 8
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27 results

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Page 1
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons C, Fernandez A, Martorell L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R, Van Esch H. Cristofoli F, et al. Am J Hum Genet. 2020 Oct 1;107(4):753-762. doi: 10.1016/j.ajhg.2020.08.015. Epub 2020 Sep 9. Am J Hum Genet. 2020. PMID: 32910914 Free PMC article.
Lamin B1 plays an important role in the nuclear envelope stability, the regulation of gene expression, and neural development. Duplication of LMNB1, or missense mutations increasing LMNB1 expression, are associated with autosomal-dominant leukodystrophy. ...Function …
Lamin B1 plays an important role in the nuclear envelope stability, the regulation of gene expression, and neural development. Duplication o …
Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S; Undiagnosed Disease Network; Bademci G, Tekin M. Borja N, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1892. doi: 10.1002/mgg3.1892. Epub 2022 Mar 5. Mol Genet Genomic Med. 2022. PMID: 35247231 Free PMC article.
Genome sequencing from peripheral leukocytes was performed on two patients with progressive neurologic disease of unknown etiology following negative genetic investigations including exome sequencing. RNA sequencing from peripheral blood was performed to determine gene exp …
Genome sequencing from peripheral leukocytes was performed on two patients with progressive neurologic disease of unknown etiology following …
Lamin B1 deletion in myeloid neoplasms causes nuclear anomaly and altered hematopoietic stem cell function.
Reilly A, Philip Creamer J, Stewart S, Stolla MC, Wang Y, Du J, Wellington R, Busch S, Estey EH, Becker PS, Fang M, Keel SB, Abkowitz JL, Soma LA, Ma J, Duan Z, Doulatov S. Reilly A, et al. Cell Stem Cell. 2022 Apr 7;29(4):577-592.e8. doi: 10.1016/j.stem.2022.02.010. Epub 2022 Mar 11. Cell Stem Cell. 2022. PMID: 35278369 Free PMC article.
LMNB1 deficiency alters genome organization inducing in vitro and in vivo expansion of HSCs, myeloid-biased differentiation with impaired lymphoid commitment, and genome instability due to defective DNA damage repair. ...LMNB1 loss thus causes acquired PHA and links …
LMNB1 deficiency alters genome organization inducing in vitro and in vivo expansion of HSCs, myeloid-biased differentiation with impa …
Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids.
Kim J, Lee S, Lee J, Park JC, Kim KH, Ko JM, Park SH, Kim SK, Mook-Jung I, Lee JY. Kim J, et al. Mol Genet Metab. 2022 Jun;136(2):132-144. doi: 10.1016/j.ymgme.2022.04.005. Epub 2022 May 2. Mol Genet Metab. 2022. PMID: 35562278
Phenylketonuria (PKU) is a common genetic metabolic disorder that causes phenylalanine accumulation in the blood. The most serious symptoms are related to the brain, as intellectual disability, seizure, and microcephaly are commonly found in poorly treated PKU patients and …
Phenylketonuria (PKU) is a common genetic metabolic disorder that causes phenylalanine accumulation in the blood. The most serious sy …
Early-stage idiopathic Parkinson's disease is associated with reduced circular RNA expression.
Whittle BJ, Izuogu OG, Lowes H, Deen D, Pyle A, Coxhead J, Lawson RA, Yarnall AJ, Jackson MS, Santibanez-Koref M, Hudson G. Whittle BJ, et al. NPJ Parkinsons Dis. 2024 Jan 20;10(1):25. doi: 10.1038/s41531-024-00636-y. NPJ Parkinsons Dis. 2024. PMID: 38245550 Free PMC article.
Early neurodegeneration may be reflected in RNA levels and measurable as a biomarker. Here, we present the largest quantification of whole blood linear and circular RNAs (circRNA) in early-stage idiopathic PD, using RNA sequencing data from two cohorts (PPMI = 259 PD, 161 …
Early neurodegeneration may be reflected in RNA levels and measurable as a biomarker. Here, we present the largest quantification of whole …
MDS/AML with del5q: An acquired "laminopathy"?
Papapetrou EP. Papapetrou EP. Cell Stem Cell. 2022 Apr 7;29(4):498-499. doi: 10.1016/j.stem.2022.03.008. Cell Stem Cell. 2022. PMID: 35395184 Free PMC article.
In this issue of Cell Stem Cell, Reilly et al. propose loss of LMNB1, the gene encoding lamin B1, often deleted in MDS/AML, as a novel genetic basis for the abnormal nuclear shape of neutrophils (known as acquired Pelger-Huet anomaly) and a cause of HSPC fate alterations p …
In this issue of Cell Stem Cell, Reilly et al. propose loss of LMNB1, the gene encoding lamin B1, often deleted in MDS/AML, as a nove …
Quantitative proteomics analysis reveals unique but overlapping protein signatures in HIV infections.
Al-Mozaini M, Alzahrani A, Alsharif I, Shinwari Z, Halim M, Alhokail A, Alrajhi A, Alaiya A. Al-Mozaini M, et al. J Infect Public Health. 2021 Jun;14(6):795-802. doi: 10.1016/j.jiph.2021.03.009. Epub 2021 Mar 29. J Infect Public Health. 2021. PMID: 34030014 Free article.
METHODS: We conducted holistic total proteomics analysis of three closely related study populations including patients with HIV type-1 (HIV-1) and HIV type-2 (HIV-2) as well as HIV-1 elite controllers (HIV-1-EC). Peripheral blood plasma (PBP) samples were subjected to labe …
METHODS: We conducted holistic total proteomics analysis of three closely related study populations including patients with HIV type-1 (HIV- …
Identification of Key Gene Targets for Periodontitis Treatment by Bioinformatics Analysis.
Jin Y, Wang Y, Lin X. Jin Y, et al. Biomed Res Int. 2022 Sep 29;2022:7992981. doi: 10.1155/2022/7992981. eCollection 2022. Biomed Res Int. 2022. PMID: 36212719 Free PMC article.
Pathway enrichment network analyses the key genes in functional modules and verified the candidate genes from the samples in peripheral blood sources of GSE43525. Moreover, we confirmed the expression of target protein in the periodontal tissues of experimental periodontit …
Pathway enrichment network analyses the key genes in functional modules and verified the candidate genes from the samples in peripheral b …
A 3-gene panel improves the prediction of left ventricular dysfunction after acute myocardial infarction.
Boileau A, Lalem T, Vausort M, Zhang L, Devaux Y; Cardiolinc network (www.cardiolinc.org). Boileau A, et al. Int J Cardiol. 2018 Mar 1;254:28-35. doi: 10.1016/j.ijcard.2017.10.109. Epub 2018 Jan 28. Int J Cardiol. 2018. PMID: 29407108
We aim to independently confirm the value of gene expression profiles in the blood to predict left ventricular (LV) dysfunction after MI. METHODS AND RESULTS: Five genes (LMNB1, MMP9, TGFBR1, LTBP4 and TNXB) selected from previous studies were measured in peripheral …
We aim to independently confirm the value of gene expression profiles in the blood to predict left ventricular (LV) dysfunction after …
KMT1 family methyltransferases regulate heterochromatin-nuclear periphery tethering via histone and non-histone protein methylation.
Rao RA, Ketkar AA, Kedia N, Krishnamoorthy VK, Lakshmanan V, Kumar P, Mohanty A, Kumar SD, Raja SO, Gulyani A, Chaturvedi CP, Brand M, Palakodeti D, Rampalli S. Rao RA, et al. EMBO Rep. 2019 May;20(5):e43260. doi: 10.15252/embr.201643260. Epub 2019 Mar 11. EMBO Rep. 2019. PMID: 30858340 Free PMC article.
Loss of LMNB1 methylation or EHMTs abrogates heterochromatin anchorage at the NP We further demonstrate that the loss of EHMTs induces many hallmarks of aging including global reduction of H3K27methyl marks and altered nuclear morphology. Consistent with this, we observe a …
Loss of LMNB1 methylation or EHMTs abrogates heterochromatin anchorage at the NP We further demonstrate that the loss of EHMTs induce …
27 results