[HTML][HTML] The structure and function of the Na, K-ATPase isoforms in health and disease

MV Clausen, F Hilbers, H Poulsen - Frontiers in physiology, 2017 - frontiersin.org
The sodium and potassium gradients across the plasma membrane are used by animal cells
for numerous processes, and the range of demands requires that the responsible ion pump …

[HTML][HTML] Genetics of migraine: where are we now?

L Grangeon, KS Lange, M Waliszewska-Prosół… - The Journal of …, 2023 - Springer
Migraine is a complex brain disorder explained by the interaction of genetic and
environmental factors. In monogenic migraines, including familial hemiplegic migraine and …

[HTML][HTML] Genic intolerance to functional variation and the interpretation of personal genomes

S Petrovski, Q Wang, EL Heinzen, AS Allen… - PLoS …, 2013 - journals.plos.org
A central challenge in interpreting personal genomes is determining which mutations most
likely influence disease. Although progress has been made in scoring the functional impact …

[HTML][HTML] Três gerações de políticas públicas para a agricultura familiar e formas de interação entre sociedade e estado no Brasil

C Grisa, S Schneider - Revista de economia e sociologia rural, 2014 - SciELO Brasil
Este artigo analisa a trajetória de construção de políticas públicas para a agricultura familiar
no Brasil, procurando enfatizar as" gerações" ou referenciais de políticas públicas …

[HTML][HTML] The CLDN5 gene at the blood-brain barrier in health and disease

Y Hashimoto, C Greene, A Munnich… - Fluids and Barriers of the …, 2023 - Springer
The CLDN5 gene encodes claudin-5 (CLDN-5) that is expressed in endothelial cells and
forms tight junctions which limit the passive diffusions of ions and solutes. The blood–brain …

α‐synuclein assemblies sequester neuronal α3‐Na+/K+‐ATPase and impair Na+ gradient

AN Shrivastava, V Redeker, N Fritz, L Pieri… - The EMBO …, 2015 - embopress.org
Extracellular α‐synuclein (α‐syn) assemblies can be up‐taken by neurons; however, their
interaction with the plasma membrane and proteins has not been studied specifically. Here …

Dystonia

B Balint, NE Mencacci, EM Valente, A Pisani… - Nature reviews Disease …, 2018 - nature.com
Dystonia is a neurological condition characterized by abnormal involuntary movements or
postures owing to sustained or intermittent muscle contractions. Dystonia can be the …

NGS technologies as a turning point in rare disease research, diagnosis and treatment

A Fernandez-Marmiesse, S Gouveia… - Current medicinal …, 2018 - ingentaconnect.com
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian
population have a rare disease. Rare diseases are thus a common problem for clinicians …

The genetic landscape of epilepsy of infancy with migrating focal seizures

R Burgess, S Wang, A McTague, KE Boysen… - Annals of …, 2019 - Wiley Online Library
Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe
developmental and epileptic encephalopathies. We delineate the genetic causes and …

Sequencing studies in human genetics: design and interpretation

DB Goldstein, A Allen, J Keebler, EH Margulies… - Nature Reviews …, 2013 - nature.com
Next-generation sequencing is becoming the primary discovery tool in human genetics.
There have been many clear successes in identifying genes that are responsible for …