Results 251 to 260 of about 3,470,657 (312)

Draft genome sequence of <i>Breoghania corrubedonensis</i> DSM 23382^T. [PDF]

Microbiol Resour Announc
Ram A, LaButti K, Webb C, Göker M, Woyke T, Fagnan K, Seshadri R.   +6 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

The complete chloroplast genome sequence and phylogenetic analysis of <i>Zinnia elegans</i> Jacq. 1792 (Asteraceae). [PDF]

Mitochondrial DNA B Resour
Ling C, Cheng H, Luo Y, Xie Z, Ma S, Pan R, Yang J.   +6 more
europepmc   +1 more source

Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective CDKL5 deficiency disorder (CDD) is a rare, severe developmental and epileptic encephalopathy. There is a pressing need to develop effective and sustainable therapeutic strategies. We aimed to investigate the causal association between febrile episodes and epileptic seizures for therapeutic implications in CDD patients.
Siyi Wang, Jialin Du, Jinghui Liu, Dongmei Hu, Hongxin Wang, Xiaoxiao Man, Lehong Gao, Shimin Hu, Xianghong Meng, Hongyang Zhao, Minjing Hu, Yingxue Yang, Zhiqi Xiong, Liankun Ren   +13 more
wiley   +1 more source

Genome sequence data of the chitinase-producing bacterium <i>Paenibacillus mucilaginosus</i> YWY-5.1. [PDF]

Data Brief
Ngoc LNT, Huynh TU, Tran DM.
europepmc   +1 more source

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

The complete genome sequence of the helmeted hornbill (<i>Rhinoplax vigil</i>). [PDF]

Biodivers Genomes
Hatten CER, Hains T, Wong CS, Ayub Q, Pirro S, Bates J, Hackett S, Dingle C.   +7 more
europepmc   +1 more source

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

Annals of Clinical and Translational Neurology, EarlyView.
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 ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Genome Sequence of <i>Arthrobacter</i> Phage StuartMinion. [PDF]

MicroPubl Biol
Adamson MA, Matsueda HM, Shepp ASG, Nguyen Tran DL, Aperocho NSC, Baek-Kim TS, Dizon AS, Gibson MA, Hendrickson KM, Lu YNK, Mcnulty K, Molina MS, Neighbarger EK, Redwine A, Takenaka DK, Taketa KN, Walker TA, Spotkaeff C, Wallace R, Donachie S, Culley A, Porter ML.   +21 more
europepmc   +1 more source

Genome sequence of a <i>Trypanosoma evansi</i> isolate from a dog in Uruguay. [PDF]

Microbiol Resour Announc
Simón MX, Robello C, Greif G.
europepmc   +1 more source