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Epigenetics of Myotonic Dystrophies: A Minireview.

• Authors : Visconti VV; Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome 'Tor Vergata', Via Montpellier 1, 00133 Rome, Italy.; Centofanti F

Subjects: Epigenomics*; DNA Methylation/DNA Methylation/DNA Methylation/*genetics ; Myotonic Dystrophy/Myotonic Dystrophy/Myotonic Dystrophy/*genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2021 Nov 22; Vol. 22 (22). Date of Electronic Publication: 2021 Nov 22.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen.

• Authors : Garofalo M; IRCCS Mondino Foundation, Pavia, Italy.; Bonanno S

Subjects: RNA* ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/drug therapy ; Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/Muscular Atrophy, Spinal*/genetics

• Source: Biology direct [Biol Direct] 2023 Sep 13; Vol. 18 (1), pp. 57. Date of Electronic Publication: 2023 Sep 13.Publisher: BioMed Central Country of Publication: England NLM ID: 101258412 Publication Model: Electronic Cited Medium: Internet ISSN: 1745-6150

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DNA hypermethylation of NOTCH2NLC in neuronal intranuclear inclusion disease: a case-control study.

• Authors : Cao Y; Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.; Tian W

Subjects: DNA Methylation* ; RNA*; Case-Control Studies Neuronal intranuclear inclusion disease

• Source: Journal of neurology [J Neurol] 2022 Nov; Vol. 269 (11), pp. 6049-6057. Date of Electronic Publication: 2022 Jul 20.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma.

• Authors : Giardina E; Oddone F; Lepre T

Subjects: Genetic Variation*; Amino Acid Oxidoreductases/Amino Acid Oxidoreductases/Amino Acid Oxidoreductases/*genetics ; Glaucoma, Open-Angle/Glaucoma, Open-Angle/Glaucoma, Open-Angle/*genetics Glaucoma-Related Pigment Dispersion Syndrome

• Source: BMC ophthalmology [BMC Ophthalmol] 2014 Apr 16; Vol. 14, pp. 52. Date of Electronic Publication: 2014 Apr 16.Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415

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Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I.

• Authors : Bonifazi E; Department of Biopathology and Diagnosing Imaging, Tor Vergata University of Rome, Rome, Italy. ; Gullotta F

Subjects: In Situ Hybridization, Fluorescence/In Situ Hybridization, Fluorescence/In Situ Hybridization, Fluorescence/*methods ; Myotonic Dystrophy/Myotonic Dystrophy/Myotonic Dystrophy/*diagnosis ; Prenatal Diagnosis/Prenatal Diagnosis/Prenatal Diagnosis/*methods

• Source: Clinical chemistry [Clin Chem] 2006 Feb; Vol. 52 (2), pp. 319-22.Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Print ISSN: 0009-9147

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Identification of transcriptome characteristics of granulosa cells and the possible role of UBE2C in the pathogenesis of premature ovarian insufficiency

• Authors : Liu, Dan; Guan, Xiaohong; Liu, Wenqiang

• Source: Journal of Ovarian Research. October 17, 2023, Vol. 16 Issue 1

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Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.

• Authors : Fan, Cong; Chen, Ken; Wang, Yukai

Subjects: DNA structure; INTRONS; PROTEIN domains

• Source: Human Genetics; Feb2023, Vol. 142 Issue 2, p245-274, 30p

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A Proof-of-Concept Inhibitor of Endothelial Lipase Suppresses Triple-Negative Breast Cancer Cells by Hijacking the Mitochondrial Function.

• Authors : Yang, Rongze; Han, Shuyan; Clayton, Joseph

Subjects: MITOCHONDRIAL physiology; ENDOTHELIAL cells; LIPASES

• Source: Cancers; Aug2022, Vol. 14 Issue 15, p3763-3763, 15p

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Long non-coding RNA nuclear paraspeckle assembly transcript 1 interacts with microRNA-107 to modulate breast cancer growth and metastasis by targeting carnitine palmitoyltransferase-1

• Authors : Xiong, Yiquan; Liu, Zeming; Li, Zhi

• Source: International Journal of Oncology. November 2019, Vol. 55 Issue 5, p1125, 12 p.

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Towards systematic nomenclature for cell-free DNA.

• Authors : Bronkhorst, Abel J.; Ungerer, Vida; Diehl, Frank

Subjects: DNA; PRENATAL diagnosis; RNA

• Source: Human Genetics; Apr2021, Vol. 140 Issue 4, p565-578, 14p

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