[HTML][HTML] Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
Abstract The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
the genetic architecture and biology of heart, lung, blood and sleep disorders, with the …
Disorders of synaptic vesicle fusion machinery
H Melland, EH Arvell, SL Gordon - Journal of neurochemistry, 2021 - Wiley Online Library
The revolution in genetic technology has ushered in a new age for our understanding of the
underlying causes of neurodevelopmental, neuromuscular and neurodegenerative …
underlying causes of neurodevelopmental, neuromuscular and neurodegenerative …
[HTML][HTML] Multiple roles of the actin and microtubule-regulating formins in the developing brain
KK Galbraith, M Kengaku - Neuroscience Research, 2019 - Elsevier
Dynamic control of the actin and microtubule cytoskeletons underlie nearly every critical
process during neural development, and requires multiple dimensions of regulation …
process during neural development, and requires multiple dimensions of regulation …
Pathogenetic profiling of COVID-19 and SARS-like viruses
Abstract The novel coronavirus (2019-nCoV) has recently emerged, causing COVID-19
outbreaks and significant societal/global disruption. Importantly, COVID-19 infection …
outbreaks and significant societal/global disruption. Importantly, COVID-19 infection …
Application of a novel haplotype-based scan for local adaptation to study high-altitude adaptation in rhesus macaques
ZA Szpiech, TE Novak, NP Bailey… - Evolution letters, 2021 - academic.oup.com
When natural populations split and migrate to different environments, they may experience
different selection pressures that can lead to local adaptation. To capture the genomic …
different selection pressures that can lead to local adaptation. To capture the genomic …
[HTML][HTML] Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder
R Kumar, MA Corbett, NJC Smith, DH Hock… - NPJ Genomic …, 2022 - nature.com
TIMMDC1 encodes the T ranslocase of I nner M itochondrial M embrane D omain-C
ontaining protein 1 (TIMMDC1) subunit of complex I of the electron transport chain …
ontaining protein 1 (TIMMDC1) subunit of complex I of the electron transport chain …
[HTML][HTML] The relationship between the aberrant long non-coding RNA-mediated competitive endogenous RNA network and Alzheimer's disease pathogenesis
Z Cai, K Zhao, L Zeng, M Liu, T Sun, Z Li… - International Journal of …, 2022 - mdpi.com
Alzheimer's disease (AD) is a common neurodegenerative disorder characterized by
cognitive dysfunction. The role of long non-coding RNAs (lncRNAs) with the action of …
cognitive dysfunction. The role of long non-coding RNAs (lncRNAs) with the action of …
Tomosyn affects dense core vesicle composition but not exocytosis in mammalian neurons
A Subkhangulova, MA Gonzalez-Lozano, AJA Groffen… - Elife, 2023 - elifesciences.org
Tomosyn is a large, non-canonical SNARE protein proposed to act as an inhibitor of SNARE
complex formation in the exocytosis of secretory vesicles. In the brain, tomosyn inhibits the …
complex formation in the exocytosis of secretory vesicles. In the brain, tomosyn inhibits the …
[HTML][HTML] Epileptic phenotypes associated with SNAREs and related synaptic vesicle exocytosis machinery
SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an
heterogeneous family of proteins that, together with their key regulators, are implicated in …
heterogeneous family of proteins that, together with their key regulators, are implicated in …
[HTML][HTML] Formins in human disease
L Labat-de-Hoz, MA Alonso - Cells, 2021 - mdpi.com
Almost 25 years have passed since a mutation of a formin gene, DIAPH1, was identified as
being responsible for a human inherited disorder: a form of sensorineural hearing loss …
being responsible for a human inherited disorder: a form of sensorineural hearing loss …