Results 291 to 300 of about 375,320 (335)

RNA splicing as a biomarker and phenotypic driver of meningioma DNA-methylation groups. [PDF]

Neuro Oncol
Leclair NK, Choudury A, Chen WC, Magill ST, McCortney K, Horbinski CM, Chen Z, Goldschmidt E, Eaton CD, Bulsara KR, Bi WL, Patel AJ, Sahm F, Raleigh D, Anczukow O.   +14 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

RNA Splicing Aberrations in Hereditary Cancer: Insights from Turkish Patients. [PDF]

Curr Issues Mol Biol
Kilic S, Sukruoglu Erdogan O, Tuncer SB, Celik Demirbas B, Yalniz Kayim Z, Yazici H.   +5 more
europepmc   +1 more source

Appraisal of Gene Expression‐Based Classifiers for Neuropsychiatric Disorders: A Meta‐Regression

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A substantial body of research examines the potential of gene‐expression‐based biomarkers for diagnosing and selecting treatments for neuropsychiatric disorders, yet no clear consensus has been reached regarding the influence of controllable factors such as study design and model selection on the performance of gene‐expression‐based ...
Ali Razavi, Brittany Arensman, Eric J. Barnett, Leo A. Lee, Stephen V. Faraone, Stephen J. Glatt, Jonathan L. Hess   +6 more
wiley   +1 more source

Changes in RNA Splicing: A New Paradigm of Transcriptional Responses to Probiotic Action in the Mammalian Brain. [PDF]

Microorganisms
Yue X, Zhu L, Zhang Z.
europepmc   +1 more source

circNR3C2 promotes chondrogenic differentiation and cartilage repair of human adipose‐derived stem cells via the hsa‐miR‐647/SOX9 pathway

Animal Models and Experimental Medicine, EarlyView.
The hypothesis diagram illustrates the function and mechanism of circNR3C2: circNR3C2 overexpression can up‐regulate COL2, Aggrecan and SOX9 expression, and regulate chondrogenic differentiation of hADSCs by targeting hsa‐miR‐647. Abstract Background Human adipose‐derived stem cells (hADSCs) are seed cells with application prospects in cartilage repair.
Dabiao Hou, Huajun Wang, Hao Guo, Dongbin Luo, Xiaofei Zheng, Simin Luo   +5 more
wiley   +1 more source

Identifying six single nucleotide variants in the COL17A1 gene that alter RNA splicing: database analysis and minigene assays. [PDF]

Sci Rep
Shao Y, Zhang R.
europepmc   +1 more source

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

Animal Models and Experimental Medicine, EarlyView.
A 6½‐year‐old girl was diagnosed with a medulloblastoma, SHH activated, subtype 3 and TP53 mutant (somatic). After surgery and chemotherapy, she was monitored with quarterly magnetic resonance imaging (MRI) scans and remained free of disease for almost 4 years.
Daniel Antunes Moreno, Bruna Minniti Mançano, Mirella Baroni, Eric Allison Philot, Felipe Antonio de Oliveira Garcia, Murilo Bonatelli, Flávia Escremim de Paula, Iara Viana Vidigal Santana, Gustavo Ramos Teixeira, Mauricio Yamanari, Luciane Sussuchi da Silva, André Escremim de Paula, Augusto Perazzolo Antoniazzi, Adrian Willig, Xiaobin Xing, Zhenyu Xu, Lucas Lourenço, Carlos Almeida Junior, Silvia Aparecida Teixeira, Rui Manuel Reis   +19 more
wiley   +1 more source

Disruption of RNA Splicing Increases Vulnerability of Cells to DNA-PK Inhibitors. [PDF]

Int J Mol Sci
Kovina AP, Luzhin AV, Tatarskiy VV, Deriglazov DA, Petrova NV, Petrova NV, Kondratyeva LG, Kantidze OL, Razin SV, Velichko AK.   +9 more
europepmc   +1 more source