Results 211 to 220 of about 109,479 (290)

Spatially resolved mapping of histones reveals selective neuronal response in Rett syndrome

The FEBS Journal, EarlyView.
Loss of Mecp2 function is associated with Rett syndrome (RTT). MeCP2 regulates chromatin, yet its influence on histone composition and dynamics is unclear. Combining MALDI‐MSI with LCM–LC–MS/MS, we mapped histone proteoforms across the dentate gyrus, cornu ammonis, and cerebellum in two mouse models of RTT.
Frederike Schäfer, Guiseppa de Rocco, Moritz Völker‐Albert, Ignasi Forne, Nicoletta Landsberger, Axel Imhof, Shibojyoti Lahiri   +6 more
wiley   +1 more source

Findings in Chromosomal Microarray Analysis during Prenatal Diagnosis in High-Risk Individuals. [PDF]

Mol Syndromol
Carrasco Salas P, Granell Escobar R, Serrano Mira A, Pérez Saldaña A, Cosculluela Vidal M, Garrido C, Vázquez Rico I.   +6 more
europepmc   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

<i>PSG</i> and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning. [PDF]

Int J Mol Sci
Surimova V, Risinskaya N, Kotova E, Abdulpatakhov A, Vasileva A, Chabaeva Y, Starchenko S, Aleshina O, Kapranov N, Galtseva I, Ponomareva A, Kanivets I, Korostelev S, Kulikov S, Sudarikov A, Parovichnikova E.   +15 more
europepmc   +1 more source

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

Obstetrics & Gynecology, 2019
Angie, Jelin, Katelynn, Sagaser, Cathleen, Lawson, Katherine Rock, Forster, Kristen, Leppert, Christine, Hertenstein, Denise, Batista, Karin, Blakemore   +7 more
openaire   +3 more sources

Epigenetic Regulation in the Pathogenesis of Periodontitis

Journal of Periodontal Research, EarlyView.
The aim of this narrative literature review was to identify epigenetic marks associated with periodontitis and to place them in a biological context. The literature was reviewed based on pre‐defined criteria. Cell type specific chromatin and mRNA modifications were included.
Henrik Dommisch, Arne Sönke Schäfer, Denica Kuzmanova, Dominique S. Michaud   +3 more
wiley   +1 more source

Correction: Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis

PLoS ONE, 2022
Sen Li, Lei-Ning Chen, Xing-Hua Wang, Hai-Jing Zhu, Xiao-Long Li, Xie Feng, Lei Guo, Xiang-Hong Ou, Jun-Yu Ma   +8 more
doaj  

Detection of chromosomal and gene abnormality with karyotyping, chromosomal microarray analysis and trio-based whole exome sequencing in pregnancies with fetal growth restriction: implications for precise prenatal diagnosis. [PDF]

BMC Pregnancy Childbirth
Chen Y, Cai M, Chen M, Pan X, Shen X, Song B, Cai X, Zhou L, Huang H.   +8 more
europepmc   +1 more source

Typhoid Toxin of Salmonella enterica Induces ISG15 Responses Mediating Host Cell Survival and Counteracting Intracellular Infection

Molecular Microbiology, EarlyView.
Toxigenic Salmonella enterica exocytose the typhoid toxin during infection causing host cell DNA damage, which activates a Type‐1 Interferon‐like response characterised by interferon‐stimulated gene 15 (ISG15) expression. ISG15 was required for host cell survival during Interferon responses and suppressed intracellular growth of Salmonella. Thus, ISG15
Daniel S. Stark, Michelle King, Angela E. M. Ibler, Salma Srour, Francesca Brown, James Sheffield, Nadia Baseer, Ellen G. Vernon, Yifeng Zhang, Christopher Staples, Lilliana Radoshevich, Daniel Humphreys   +11 more
wiley   +1 more source

Utility of whole exome sequencing in the evaluation of isolated fetal growth restriction in normal chromosomal microarray analysis. [PDF]

Ann Med
Shi X, Huang Y, Ding H, Zhao L, He W, Wu J.   +5 more
europepmc   +1 more source