Results 181 to 190 of about 29,886 (297)

Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction. [PDF]

Chin Med J (Engl), 2020
Hong JM, Zhao M, He J, Huang XJ, Zhao ZY, Chen WJ, Wang N, Li JJ.   +7 more
europepmc   +1 more source

Ligation-Independent Mechanism of Multiplex Ligation-Dependent Probe Amplification

Ligation-Independent Mechanism of Multiplex Ligation-Dependent Probe Amplification
Multiplex ligation-dependent probe amplification (MLPA) is a widely used technique for detecting genomic structural variants. The technique is based on hybridization and ligation, followed by amplification of the ligation products. Therefore, ligation is considered a fundamental process that determines the feasibility and fidelity of MLPA.
openaire  

Assessment of measurable residual disease in ovarian tissue collected for fertility preservation in patients in remission from acute myeloid leukaemia: A pilot study

British Journal of Haematology, EarlyView.
Summary Allogeneic haematopoietic stem cell transplantation (ASCT) is a curative treatment for acute myeloid leukaemia (AML) but carries a high risk of gonadotoxicity. Ovarian tissue cryopreservation (OTC) offers a fertility preservation option, yet its safety in AML remains uncertain due to the risk of leukaemic cell reintroduction. The FERTILAM pilot
Augustin Boudry, Florian Chevillon, Alice Marceau‐Renaut, Thorsten Braun, Thomas Boyer, Nathalie Helevaut, Elise Fournier, Sandrine Geffroy, Nicolas Boissel, Emmanuelle Clappier, Claude Preudhomme, Nicolas Duployez, Catherine Poirot, Laurène Fenwarth   +13 more
wiley   +1 more source

New biosensors and transgenic mice for multiplex cGMP imaging

British Journal of Pharmacology, EarlyView.
Background and Purpose Cyclic guanosine monophosphate (cGMP) is a versatile second messenger that is important for human (patho‐)physiology and pharmacotherapy. Live‐cell imaging of cGMP with biosensors allows to elucidate its spatiotemporal dynamics in real time under close‐to‐native conditions. However, to monitor two separate cGMP pools or cGMP/cAMP
Markus Wolters, Martin Thunemann, Barbara Birk, Susanne Feil, Viacheslav O. Nikolaev, Moritz Lehners, Robert Feil   +6 more
wiley   +1 more source

Application of a Multiplex Ligation-Dependent Probe Amplification-Based Next-Generation Sequencing Approach for the Detection of Pathogenesis of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy Caused by Copy Number Aberrations. [PDF]

Mol Neurobiol
Yang Y, Xia C, Song X, Tang X, Nie X, Xu W, Du C, Zhang H, Luo P.   +8 more
europepmc   +1 more source

Fenofibrate potentiates the therapeutic efficacy of EZH2 inhibitors on melanoma via TRIM21‐ and OTUD4‐mediated EZH2 ubiquitination

British Journal of Pharmacology, EarlyView.
Background and Purpose EZH2 (enhancer of zeste homologue 2) inhibitors are an emerging class of drugs that target epigenetic regulation. However, their efficacy in solid tumours has been limited, partly due to drug‐induced upregulation of fatty acid synthesis.
Rui Cheng, Yuanjun Tang, Xuedi Cao, Xiaotong Yu, Zhanya Huang, Yunyun Guo, Renjing Jin, Yan Wang, Yang Liu, Lixiang Xue, Yuqing Wang   +10 more
wiley   +1 more source

Genotype–Phenotype Correlations of Li–Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort

Cancer Science, EarlyView.
This study investigates genotype–phenotype correlations in Japanese families with germline TP53 pathogenic variants, collected through a nationwide prospective cancer surveillance study (JCCG LFS‐20). Among 41 families analyzed, 36 met criteria for Li–Fraumeni syndrome (LFS), and 5 were classified as attenuated LFS.
Fumito Yamazaki, Yoshiko Nakano, Masashi Sanada, Hiroki Kurahashi, Shunsuke Miyai, Arisa Ueki, Yuko Watanabe, Daisuke Hasegawa, Shuhei Karakawa, Toshifumi Ozaki, Akira Hirasawa, Akiko M. Saito, Eisuke Inoue, Motohiro Kato, Hiroyoshi Hattori   +14 more
wiley   +1 more source

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source