Zobrazeno 1 - 10
of 3 234
pro vyhledávání: '"functional studies"'
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 891-905 (2024)
Abstract Variants in potassium channel‐related genes are one of the most important mechanisms underlying abnormal neuronal excitation and disturbances in the cellular resting membrane potential. These variants can cause different forms of epilepsy,
Externí odkaz:
https://doaj.org/article/06f8390efd0042a0b5047b8175b288c1
Autor:
Shutong Pang, Junan Yan
Publikováno v:
PeerJ, Vol 12, p e17870 (2024)
The storage and periodic voiding of urine in the lower urinary tract are regulated by a complex neural control system that includes the brain, spinal cord, and peripheral autonomic ganglia. Investigating the neuromodulation mechanisms of the lower ur
Externí odkaz:
https://doaj.org/article/c8afdd0a617546b09c6d6cff35eaf4ea
Autor:
Li Wang, Robert M. Rossi, Xiaoting Chen, Jing Chen, Jilian Runyon, Mehak Chawla, Daniel Miller, Carmy Forney, Arthur Lynch, Xuzhe Zhang, Fansheng Kong, Bo Jacobsson, Leah C. Kottyan, Matthew T. Weirauch, Ge Zhang, Louis J. Muglia
Publikováno v:
BMC Medicine, Vol 21, Iss 1, Pp 1-12 (2023)
Abstract Background Preterm birth (PTB), defined as delivery before 37 gestational weeks, imposes significant public health burdens. A recent maternal genome-wide association study of spontaneous PTB identified a noncoding locus near the angiotensin
Externí odkaz:
https://doaj.org/article/be5cdb1ceca847a8807404f5cbf105e9
Autor:
Tariq Aziz, Muhammad Naveed, Muhammad Aqib Shabbir, Abid Sarwar, Ayaz Ali Khan, Ammarah Hasnain, Taqweem Ul Haq, Zhennai Yang, Abdellah Zinedine, João Miguel Rocha, Metab Alharbi
Publikováno v:
Frontiers in Bioscience-Landmark, Vol 29, Iss 4, p 147 (2024)
Background: Lactiplantibacillus plantarum 12-3 holds great promise as a probiotic bacterial strain, yet its full potential remains untapped. This study aimed to better understand this potential therapeutic strain by exploring its genomic landscape, g
Externí odkaz:
https://doaj.org/article/373058e441d541b6b0a0083562914eb7
Autor:
Frontiers Production Office
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/860a667b41a34581b0aab505c35ae983
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/3af6023161a14783afae34cd1bcca558
Autor:
Luana Sella Motta Maia, Bettina Burger, Arije Ghannam, Fernanda Leonel Nunes, Mariana Paes Leme Ferriani, Marina Mendonça Dias, Luisa Karla Arruda, Christian Drouet, Sven Cichon
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 23, p 7299 (2023)
Background: Hereditary angioedema (HAE) is a severe and potentially life-threatening disease. The most common forms are caused by variants in SERPING1, resulting in C1-inhibitor (C1-INH) deficiency (HAE-C1-INH). C1-INH is a serine protease inhibitor
Externí odkaz:
https://doaj.org/article/d614d536eac140bc83ea29203c2e9328
Akademický článek
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Akademický článek
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Autor:
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 13699 (2023)
The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in PPP2R1A have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. The PPP2R1A gene encodes a
Externí odkaz:
https://doaj.org/article/1b68797967244e898233e77e9a3e3098