Results 241 to 250 of about 34,367,900 (254)

Epidemiological characteristics and clinical implications of Vibrio vulnificus infections in western Gyeongsangnam-do, Korea: A retrospective observational study. [PDF]

Medicine (Baltimore)
Cho SH, Baek CH.
europepmc   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source

Genome assembly and annotation of two clinical <i>Naegleria fowleri</i> isolates from Costa Rica. [PDF]

Microbiol Resour Announc
Allouch N, Retana Moreira L, Aurago N, Abrahams Sandí E, Marcelino I.   +4 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Climate Informed Dengue Prediction and Future Risk Under a Changing Monsoon Climate in Kerala, India. [PDF]

Geohealth
Sophia Y, Roxy MK, Vaisakh SB, Sreelakshmi PRN, Anish TS, Indu PS.   +5 more
europepmc   +1 more source

Multiyear tropical warm pool warming drives slowdown in Antarctic mass loss. [PDF]

Nature
Wang Y, Ding Q, Li X, Ballinger TJ, Nakayama Y, Topál D, Steig EJ.   +6 more
europepmc   +1 more source

Associations between weather and Plasmodium vivax malaria in an Amazonian elimination setting: a distributed lag analysis from 2017 to 2024. [PDF]

Malar J
Barratt Heitmann G, Wu X, Nguyen AT, Altamirano-Quiroz A, Fine SR, Fernandez-Camacho B, Barja A, Cava R, Soto-Calle V, Rodriguez H, Carrasco-Escobar G, Bennett A, Llanos-Cuentas A, Mordecai EA, Hsiang MS, Benjamin-Chung J.   +15 more
europepmc   +1 more source

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Climate phenomenon of La Niña and El Niño advances on variation in sea water level of Lembeh Strait and Sangihe Waters

2013
Coastal Waters of Lembeh Strait characterizes by small waves and bathymetry undulation. While Sangihe waters have big waves, coastal bays with gently sloping beaches and flawless beaches that are generally steep headlands or cliffs on the shoreline. Differences in these two characters are interesting to watch, especially the value of the Mean Sea Level
., Riyadi, Tarumingkeng, Adri A, Djamaluddin, Rignolda, Mamuaya, Gybert E   +3 more
openaire   +2 more sources