Results 281 to 290 of about 449,093 (327)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Comparative genomics of aflatoxigenic A. flavus reveals mycotoxin diversity and postharvest adaptation in cashew nuts from coastal Kenya. [PDF]

Sci Rep
Katua K, Kitundu GL, Gachanja PW, Musangi CR, Juma BS, Mukhebi DW, Kibiti CM, Swaleh S, Mbinda WM.   +8 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Global Comparative Genomics of <i>Stenotrophomonas</i> <i>maltophilia</i> Reveals Cryptic Species Diversity, Resistome Variation, and Population Structure. [PDF]

Life (Basel)
Thant EP, Klaysubun C, Suwannasin S, Dechathai T, Singkhamanan K, Yaikhan T, Chaichana N, Pomwised R, Wonglapsuwan M, Chusri S, Surachat K.   +10 more
europepmc   +1 more source

Draft Genome Sequence of Pseudomonas fluorescens DSM 11579 and Comparative Genomics with Pseudomonas sp. SH-C52, two Lipopeptide

, 2020
Norbert Kirchner, Carolina Cano‐Prieto, Menno van der Voort, Jos M. Raaijmakers, Harald Gross   +4 more
openalex   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Genome Sequencing and Comparative Genomics of the Hyper-Cellulolytic Fungus <i>Talaromyces pinophilus</i> Y117. [PDF]

J Fungi (Basel)
Li Y, Yue S, Li P, Zeng J, Guo J, Xiong D, Zhang S, Deng T, Yuan L.   +8 more
europepmc   +1 more source

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source

Genetic diversity and comparative genomics across Leishmania (Viannia) species. [PDF]

Commun Biol
Gonzalez-Garcia LN, Rodriguez MP, Parra-Muñoz M, Clavijo AM, Levy L, Ovalle-Bracho C, Colorado C, Camargo C, Quiceno E, Moncada MJ, Muskus C, Urrea DA, Baez-Aguirre F, Restrepo S, Echeverry MC, Duitama J.   +15 more
europepmc   +1 more source

PlastidHub: An integrated analysis platform for plastid phylogenomics and comparative genomics. [PDF]

Plant Divers
Zhang NN, Stull GW, Zhang XJ, Fan SJ, Yi TS, Qu XJ.   +5 more
europepmc   +1 more source