Results 191 to 200 of about 29,886 (297)

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification. [PDF]

Pharmacogenomics, 2018
Vijzelaar R, Botton MR, Stolk L, Martis S, Desnick RJ, Scott SA.   +5 more
europepmc   +1 more source

Using miniaturized laboratory equipment and DNA barcoding to improve conservation genetics training and identify illegally traded species

Conservation Biology, EarlyView.
Abstract Illegal wildlife trade (IWT) is one of the largest global illegal activities, and it negatively affects biodiversity and sustainable development worldwide. DNA barcoding coupled with high‐throughput sequencing (i.e., metabarcoding) is useful in identifying taxa affected by IWT and has been used routinely for decades.
Maria Joana Ferreira da Silva, Ivo Colmonero‐Costeira, Saidil Lamine Djaló, Tomás Camará, Rui M. Sá, Tania Minhós, Angelika Kiebler, Martin Grethlein, Netta Pikkarainen, Stefan Prost   +9 more
wiley   +1 more source

Benchmarking the paediatric T‐cell ALL subtype classifier, TALLSorts

British Journal of Haematology, EarlyView.
Ozcan Gulbey, Terena James, Ruth E. Cranston, Dagmara Furmanczyk, Claire Schwab, Anna Lawson, Pam Kearns, Ajay Vora, Juliette Roels, Pieter Van Vlierberghe, Christine J. Harrison, Mark T. Ross, Amir Enshaei, Frederik W. van Delft, Anthony V. Moorman   +14 more
wiley   +1 more source

Identification and Phylogenetic Characterisation of Novel Adeno‐Associated Virus Capsids in Non‐Human Primate Tissues

Cell Proliferation, EarlyView.
AAV's widespread application is currently confronting critical challenges. This study established a systematic framework of ‘natural discovery–evolutionary analysis–functional optimization’, providing a new paradigm for the development of next‐generation AAV vectors with clinical‐grade tissue specificity, low immunogenicity, and cross‐species ...
Liyu Zhu, Kai Xu, Yali Ding, Kailun Liu, Jing Liu, Zongren Hou, Rui Niu, Ning Yang, Hualing Qin, Baoyang Hu, Ying Zhang, Wei Li   +11 more
wiley   +1 more source

Corrigendum: Diagnosis of the accurate genotype of HKaa carriers in patients with thalassemia using multiplex ligation-dependent probe amplification combined with nested polymerase chain reaction. [PDF]

Chin Med J (Engl), 2020
europepmc   +1 more source

Clinical application of genetic testing for posterior uveal melanoma [PDF]

, 2016

core   +1 more source

Alternative Polyadenylation Drives Runaway Pro‐Inflammatory Macrophages in Periodontitis by Enabling Escape From miRNA Repression

Cell Proliferation, EarlyView.
APA‐Guided Therapeutic miRNA Selection for Periodontitis. ABSTRACT Periodontitis is a chronic inflammatory disease driven by a dysregulated host immune response, in which macrophage‐mediated inflammation shifts from protective to pathological. While monocyte‐derived macrophages (MDMs) are known to adopt a destructive, M1‐like pro‐inflammatory phenotype,
Jing Zhang, Yilong Zhao, Jiaru Deng, Shuyuan Qu, Yiyi Zhou, Qin Zhao, Yufeng Zhang   +6 more
wiley   +1 more source

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses. [PDF]

Ann Lab Med, 2019
Kim HJ, Kim SK, Yoo KY, Lee KO, Yun JW, Kim SH, Kim HJ, Park SK.   +7 more
europepmc   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source