Results 241 to 250 of about 24,918 (297)

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Hypothalamic GABAergic neurons: their roles in health and metabolic diseases. [PDF]

Front Endocrinol (Lausanne)
Wang B, Yu Y, Li J, Xiong Y, Zhang X, Wan Y, Zheng R, Zhang C.   +7 more
europepmc   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

Uncovering Necroptosis in Alzheimer's Disease: A Systematic Review of Evidence Across Experimental Models. [PDF]

Cell Mol Neurobiol
Shah N, Natesan G, Gupta R.
europepmc   +1 more source

The lincRNA Pantr1 is a FOXG1 target gene conferring site-specific chromatin binding of FOXG1. [PDF]

Nucleic Acids Res
Gather F, Rauleac T, Akol I, Arumugam G, Fullio CL, Müller T, Kleidonas D, Geiss-Friedlander R, Fischer A, Vlachos A, Backofen R, Vogel T.   +11 more
europepmc   +1 more source

LRRC8 channel complexes counterbalance KATP channels to mediate swell-secretion coupling in mouse pancreatic β cells. [PDF]

JCI Insight
Abd El-Aziz TM, Kang C, Xie L, Tranter JD, Patel S, Chadda R, Remedi MS, Sah R.   +7 more
europepmc   +1 more source

Measuring Australian Primary School Children's Water Safety Knowledge: Alignment With the Victorian Water Safety Certificate. [PDF]

J Sch Health
Petrass L, Calverley H, Matthews B.
europepmc   +1 more source

Neonatal but not juvenile gene therapy reduces seizures and prolongs lifespan in SCN1B-Dravet syndrome mice. [PDF]

J Clin Invest
Chen C, Yuan Y, O'Malley HA, Duba-Kiss R, Chen Y, Habig K, Niibori Y, Hodges SL, Hampson DR, Isom LL.   +9 more
europepmc   +1 more source

FOXD3-mediated transactivation of ALKBH5 promotes neuropathic pain via m⁶A-dependent stabilization of 5-HT3A mRNA in sensory neurons. [PDF]

Proc Natl Acad Sci U S A
Huang Z, Zhang Y, Wang S, Qi R, Tao Y, Sun Y, Jiang D, Jiang X, Tao J.   +8 more
europepmc   +1 more source

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Rip Currents

Annual Review of Fluid Mechanics, 2011
Rip currents are fast-moving flows, traveling “outward almost at right angles to the shore” ( Shepard 1936 ), creating a natural hazard for beachgoers, who suddenly find themselves in deep water. Field measurements and instrumentation, laboratory techniques, and numerical modeling have improved with time, enabling a more complete description of rip ...
Dalrymple, Robert A., MacMahan, Jamie H., Reniers, Ad J.H.M., Nelko, Varjola   +3 more
  +5 more sources