Results 131 to 140 of about 533,077 (310)

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

Enriched whole genome sequencing identified compensatory mutations in the RNA polymerase gene of rifampicin-resistant <em>Mycobacterium leprae</em> strains

, 2018
Mallika Lavania, Itu Singh, Ravindra P. Turankar, Anuj Gupta, Madhvi Ahuja, Vinay Kumar Pathak, Utpal Sengupta   +6 more
openalex   +2 more sources

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease [PDF]

, 2017
Madhuri Hegde, Avni Santani, Rong Mao, Andrea Ferreira‐Gonzalez, Karen E. Weck, Karl V. Voelkerding   +5 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

Genomic insights from whole genome sequencing of four clonal outbreak Campylobacter jejuni assessed within the global C. jejuni population [PDF]

, 2016
Clifford G. Clark, Chrystal Berry, Matthew G. Walker, Aaron Petkau, Dillon Barker, Cai Guan, Aleisha Reimer, Eduardo N. Taboada   +7 more
openalex   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Whole Genome Sequencing v1

, 2018
Whole genome sequencing of Yeonsan Ogye
openaire   +1 more source

Validation of a Genetic Risk Score Combined with Clinical Variables for Predicting Pulmonary Fibrosis in early Rheumatoid Arthritis

Arthritis Care &Research, Accepted Article.
Objectives Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). The study aimed to externally validate a genetic risk score (GRS) and a combined risk score for predicting the risk of RA‐associated PF in an independent cohort of early‐RA patients. Methods This study utilized an inception cohort of 1118 patients
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source

Synergistic Roles of FAHD‐1 and PYC‐1 in Mitochondrial Function, Behavior, and Longevity in C. elegans

Advanced Biology, EarlyView.
FAHD‐1 and PYC‐1 catalyze opposing mitochondrial reactions that regulate oxaloacetate homeostasis in Caenorhabditis elegans. Using single and double knockouts, this study reveals that both enzymes shape locomotion, reproduction, respiration, and lifespan.
Riccardo Giaquinta, Andreas Andric, Matthias Scheppach, Alexander K. H. Weiss   +3 more
wiley   +1 more source

Versatile Cell Penetrating Peptide for Multimodal CRISPR Gene Editing in Primary Stem Cells

Advanced Functional Materials, EarlyView.
CRISPR machinery in diverse molecular formats (DNA, RNA, and ribonucleic protein) is complexed into nanoparticles with the cell‐friendly arginine‐alanine‐leucine‐alanine (RALA) cell‐penetrating peptide. Nanoparticles are delivered to primary mesenchymal stem cells ex vivo or locally in vivo to facilitate multimodal CRISPR gene editing. This RALA‐CRISPR
Joshua P. Graham, Jose Gabriel Castro, Lisette C. Werba, Joseph Amitrano, Luke Fardone, Kevin P. Francis, Anand Ramamurthi, Michael J. Layden, Helen O. McCarthy, Tomas Gonzalez‐Fernandez   +9 more
wiley   +1 more source