Results 41 to 50 of about 79,064 (227)

Generalized Dystonia With Cervical Predominance in a Patient With a De Novo TCF20 Variant

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift ...
Melisa Kilic, Petr Dusek, Ibrahim Kamaci, Bahar Gulmez, Gul Yalcin Cakmakli, Ersin Tan, Sibel Ugur Iseri, Zuhal Yapici   +7 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing [PDF]

Ann Clin Transl Neurol
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Gonzalez Saez‐Diez E, Tam A, Carty S, Ferrer Socorro M, Yang K, Ebrahimi‐Fakhari D.   +5 more
europepmc   +2 more sources

Comparison of whole genome amplification techniques for human single cell exome sequencing. [PDF]

PLoS ONE, 2017
BACKGROUND:Whole genome amplification (WGA) is currently a prerequisite for single cell whole genome or exome sequencing. Depending on the method used the rate of artifact formation, allelic dropout and sequence coverage over the genome may differ ...
Erik Borgström, Marta Paterlini, Jeff E Mold, Jonas Frisen, Joakim Lundeberg   +4 more
doaj   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source

Gestational Hypoxia Disrupts Medial Ganglionic Eminence Progenitor Dynamics and Interneuron Development in Schizophrenia

Advanced Science, EarlyView.
FES‐derived MGE spheroids exhibit progenitor‐stage alterations in developmental trajectory and hypoxia‐responsive transcriptional programs, followed by functional disruption. Gestational hypoxia recapitulates impaired progenitor proliferation, shortened cell‐cycle progression, interneuron developmental abnormalities, and schizophrenia‐like behaviors in
Peiyan Ni, Qiancheng Zhang, Youhui Jiang, Huiying Yao, Chuqing Zhou, Xiaoyi Tian, Shiyingnan Gao, Jun Zhao, Xinyi Ren, Naxin Xu, Mengshan Fu, Liansheng Zhao, Xueyu Qi, Xueli Yu, Wanjun Guo, Sangmi Chung, Fan Guo, Tao Li   +17 more
wiley   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases

Annals of Clinical and Translational Neurology, 2020
Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample.
Edgard Verdura, Agatha Schlüter, Gorka Fernández‐Eulate, Raquel Ramos‐Martín, Miren Zulaica, Laura Planas‐Serra, Montserrat Ruiz, Stéphane Fourcade, Carlos Casasnovas, Adolfo López de Munain, Aurora Pujol   +10 more
doaj   +1 more source

Overcoming Drug Resistance by Paclitaxel Resistance in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
In the murine triple‐negative breast cancer (TNBC) model, chemotherapy effectively increases tumor neoantigen burden (TNB). Here, the study constructs a liposomal nanovaccine using antigens derived from in vitro chemotherapy‐treated paclitaxel‐resistant TNBC 4T1 cells.
Bo Chen, Yangyi Wang, Tingting Li, Changqing Guo, Zhe Xie, Zhixian Zhang, Xinghua Han, Wei Wang, Jian Wang, Xiaopeng Ma, Yuanzeng Min   +10 more
wiley   +1 more source

Computational and Bioinformatics Frameworks for Next-Generation Whole Exome and Genome Sequencing

The Scientific World Journal, 2013
It has become increasingly apparent that one of the major hurdles in the genomic age will be the bioinformatics challenges of next-generation sequencing. We provide an overview of a general framework of bioinformatics analysis.
Marisa P. Dolled-Filhart, Michael Lee, Chih-wen Ou-yang, Rajini Rani Haraksingh, Jimmy Cheng-Ho Lin   +4 more
doaj   +1 more source

Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs

Canine Medicine and Genetics, 2020
Background Although, in general, cancer is considered a multifactorial disease, clustering of particular cancers in pedigrees suggests a genetic predisposition and could explain why some dog breeds appear to have an increased risk of certain cancers.
Anna L. W. Huskey, Katie Goebel, Carlos Lloveras-Fuentes, Isaac McNeely, Nancy D. Merner   +4 more
doaj   +1 more source