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1993 2
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2005 2
2008 1
2009 1
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2022 4
2024 2

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Page 1
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
RESULTS: Disease-causing variants were identified in 75/396 patients (19%), with variants in the three COL6-genes (COL6A1, COL6A2 and COL6A3) as the most common cause of the identified muscle disorder, followed by variants in the RYR1 gene. ...
RESULTS: Disease-causing variants were identified in 75/396 patients (19%), with variants in the three COL6-genes (COL6A1, COL6A2 and …
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Milioto C, Carcolé M, Giblin A, Coneys R, Attrebi O, Ahmed M, Harris SS, Lee BI, Yang M, Ellingford RA, Nirujogi RS, Biggs D, Salomonsson S, Zanovello M, de Oliveira P, Katona E, Glaria I, Mikheenko A, Geary B, Udine E, Vaizoglu D, Anoar S, Jotangiya K, Crowley G, Smeeth DM, Adams ML, Niccoli T, Rademakers R, van Blitterswijk M, Devoy A, Hong S, Partridge L, Coyne AN, Fratta P, Alessi DR, Davies B, Busche MA, Greensmith L, Fisher EMC, Isaacs AM. Milioto C, et al. Nat Neurosci. 2024 Apr;27(4):643-655. doi: 10.1038/s41593-024-01589-4. Epub 2024 Feb 29. Nat Neurosci. 2024. PMID: 38424324 Free PMC article.
Quantitative proteomics revealed an increase in extracellular matrix (ECM) proteins in (GR)400 and (PR)400 spinal cord, with the collagen COL6A1 the most increased protein. TGF-beta1 was one of the top predicted regulators of this ECM signature and polyGR expression in hum …
Quantitative proteomics revealed an increase in extracellular matrix (ECM) proteins in (GR)400 and (PR)400 spinal cord, with the collagen …
Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.
Gregorio I, Mereu M, Contarini G, Bello L, Semplicini C, Burgio F, Russo L, Sut S, Dall'Acqua S, Braghetta P, Semenza C, Pegoraro E, Papaleo F, Bonaldo P, Cescon M. Gregorio I, et al. Dis Model Mech. 2022 Sep 1;15(9):dmm049481. doi: 10.1242/dmm.049481. Epub 2022 Sep 21. Dis Model Mech. 2022. PMID: 35946603 Free PMC article.
Mutations of genes coding for collagen VI (COL6) cause muscle diseases, including Ullrich congenital muscular dystrophy and Bethlem myopathy. Although COL6 genetic variants were recently linked to brain pathologies, the impact of COL6 deficiency in brain func …
Mutations of genes coding for collagen VI (COL6) cause muscle diseases, including Ullrich congenital muscular dystrophy and Bethlem m …
[Collagen VI-related muscle disorders].
Higuchi I. Higuchi I. Brain Nerve. 2011 Nov;63(11):1169-78. Brain Nerve. 2011. PMID: 22068469 Review. Japanese.
Collagen VI-related muscle disorders include severe Ullrich's disease (Ullrich congenital muscular dystrophy:UCMD) and milder Bethlem myopathy. Mutations in the 3 collagen VI genes, namely, COL6A1, COL6A2, and COL6A3, cause both diseases. UCMD is inherited in an aut …
Collagen VI-related muscle disorders include severe Ullrich's disease (Ullrich congenital muscular dystrophy:UCMD) and milder Bethlem myopat …
Sub-Chronic Neuropathological and Biochemical Changes in Mouse Visual System after Repetitive Mild Traumatic Brain Injury.
Tzekov R, Dawson C, Orlando M, Mouzon B, Reed J, Evans J, Crynen G, Mullan M, Crawford F. Tzekov R, et al. PLoS One. 2016 Apr 18;11(4):e0153608. doi: 10.1371/journal.pone.0153608. eCollection 2016. PLoS One. 2016. PMID: 27088355 Free PMC article.
Repetitive mild traumatic brain injury (r-mTBI) results in neuropathological and biochemical consequences in the human visual system. ...Proteomic analysis of the optic nerves demonstrated various changes consistent with a negative effect of r-mTBI on major cellular proces …
Repetitive mild traumatic brain injury (r-mTBI) results in neuropathological and biochemical consequences in the human visual system. …
Identification of COL6A1 as the Key Gene Associated with Antivascular Endothelial Growth Factor Therapy in Glioblastoma Multiforme.
Lin H, Yang Y, Hou C, Zheng J, Lv G, Mao R, Xu P, Chen S, Zhou Y, Wang P, Zhou D. Lin H, et al. Genet Test Mol Biomarkers. 2021 May;25(5):334-345. doi: 10.1089/gtmb.2020.0279. Epub 2021 May 10. Genet Test Mol Biomarkers. 2021. PMID: 33970702
Among them, COL6A1 was regarded as the key gene associated with anti-VEGF therapy. Further, COL6A1 was upregulated in GBM compared to that in normal brain tissues. ...
Among them, COL6A1 was regarded as the key gene associated with anti-VEGF therapy. Further, COL6A1 was upregulated in GBM comp …
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Winckler PB, Chwal BC, Dos Santos MAR, Burguêz D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FPE, Chaves MLF, Saute JAM. Winckler PB, et al. Neurol Sci. 2022 Jul;43(7):4473-4481. doi: 10.1007/s10072-022-05934-y. Epub 2022 Feb 17. Neurol Sci. 2022. PMID: 35175440
Multi-gene panel solved the diagnosis of 12/25 (48%) probands with limb-girdle muscular dystrophies, of 7/14 (50%) with congenital muscular diseases, and of 7/10 (70%) with muscular dystrophy with prominent joint contractures. The most frequent diagnosis for limb-girdle mu …
Multi-gene panel solved the diagnosis of 12/25 (48%) probands with limb-girdle muscular dystrophies, of 7/14 (50%) with congenital muscular …
Identification of potential genes related to breast cancer brain metastasis in breast cancer patients.
Zhang L, Wang L, Yang H, Li C, Fang C. Zhang L, et al. Biosci Rep. 2021 Oct 29;41(10):BSR20211615. doi: 10.1042/BSR20211615. Biosci Rep. 2021. PMID: 34541602 Free PMC article.
Brain metastases (BMs) usually develop in breast cancer (BC) patients. Thus, the molecular mechanisms of breast cancer brain metastasis (BCBM) are of great importance in designing therapeutic strategies to treat or prevent BCBM. ...
Brain metastases (BMs) usually develop in breast cancer (BC) patients. Thus, the molecular mechanisms of breast cancer brain m …
Congenital Muscular Dystrophy Overview – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, Pegoraro E. Sparks SE, et al. 2001 Jan 22 [updated 2012 Aug 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2001 Jan 22 [updated 2012 Aug 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301468 Free Books & Documents. Review.
Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to …
Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and sei …
20 results