Results 191 to 200 of about 427,581 (278)

Unveiling the Potential of Lentilactobacillus hilgardii in Malolactic Fermentation: Comparative Genomics and Fermentation Dynamics. [PDF]

Microb Biotechnol
Mantegazza G, Mangieri N, Yazdi EV, Russo P, Mora D, Gargari G.   +5 more
europepmc   +1 more source

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 reveals adaptive traits in novel Antarctic lithic cyanobacteria. [PDF]

BMC Genomics
Van Goethem MW, Vikram S, Cowan DA, Makhalanyane TP.   +3 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

Comparative genomics analyses reveal genomic variation and evolutionary adaptation in Dendrobium orchids. [PDF]

Nat Commun
Chen BJ, Wang JY, Niu SC, Chen QH, Chen XF, Zheng PJ, Liang YM, Li KL, Zheng ZZ, Liang YY, Zhang CL, Zhao XW, Li J, He X, Wang LY, Huang Y, Zheng QY, Zhang MM, Chen DQ, Zhou CY, Zeng MY, Zhou Z, Huang MZ, Zhao Z, Peng DH, He ZH, Zou LH, Han BC, Tsai WC, Lan SR, Zhang GQ, Liu ZJ, Xu Q.   +32 more
europepmc   +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

Comparative genomics of '<i>Xanthomonas cannabis</i>' reveals an emerging, diverse pathogen. [PDF]

Microb Genom
McKnight DJE, Clackson L, Wong-Bajracharya J, Webster J, Worden P, Snijders F, Okoh EB, Djordjevic SP, Chapman TA, Bogema DR.   +9 more
europepmc   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Exploration of hanging coffin customs and the bo people in China through comparative genomics. [PDF]

Nat Commun
Zhou H, Tao L, Zhao Y, He H, Shi H, Yu T, Guo Y, He Y, Liu H, Wu Y, Cao J, Kuang Z, Wu S, Lin F, Yang Y, Xiong L, Liu Y, Zhu K, Xu Y, Huang S, Yang X, Wang R, Wang B, Wang X, Lu WJ, Kutanan W, Shoocongdej R, Su B, Wang CC, Ji X, Zhang X.   +30 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