Results 121 to 130 of about 12,379 (257)

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

Tracing social mechanisms and interregional connections in Early Bronze Age Societies in Lower Austria. [PDF]

Nat Commun
Furtwängler A, Rebay-Salisbury K, Neumann GU, Kanz F, Ringbauer H, Bianco RA, Schmidt T, Semerau L, Radzevičiūtė R, Barquera R, Rohland N, Stewardson K, Workman JN, Curtis E, Zalzala F, Callan K, Iliev L, Qiu L, Cheronet O, Wagner A, Bravo Morante G, Spannagel M, Teschler-Nicola M, Novotny F, Verdianu D, Pinhasi R, Reich D, Krause J, Stockhammer PW, Mittnik A.   +29 more
europepmc   +2 more sources

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Virtuality VS Reality: Testing a virtual approach for the exploratory analysis of Bronze Age urns from Northern Italy. [PDF]

PLoS One
Scalise LM, Morigi MP, Cavazzuti C, Brancaccio R, Crema ER, Seracini M, Benazzi S, Pomeroy E.   +7 more
europepmc   +1 more source

Shadow Infrastructures of Labour: A Case Study of Generative AI Use in Victorian Child Protection Practice

Australian Journal of Social Issues, EarlyView.
ABSTRACT Generative Artificial Intelligence (GenAI) tools such as ChatGPT are rapidly entering workplaces, yet their use in frontline human services remains largely undocumented and weakly regulated. Drawing on an investigation into a child protection worker's informal use of ChatGPT, this article provides insight into how GenAI is already shaping ...
Joel Robert McGregor, Linus Tan, Caleb Lloyd, Abigail Sheed   +3 more
wiley   +1 more source

Stable isotope analysis reveals Bronze Age diets at Deh Dumen Iran. [PDF]

Sci Rep
Maghsoud EM, Koochakzaei A, Naseri R.
europepmc   +1 more source

Was descent in Neolithic and Bronze Age Europe patrilineal or bilateral? [PDF]

Proc Biol Sci
Guyon L, Heyer E, Chaix R.
europepmc   +1 more source

Dietary stability in ancient Serbia: Isotopic analysis of two middle bronze age Moriš Cemeteries. [PDF]

PLoS One
Tomažič I, Pompeani K, Larson K, Nicodemus A, O'Shea J, Milašinović L, Ventresca-Miller A.   +6 more
europepmc   +1 more source

Spatiotemporal evolution and clustering patterns of settlements from the Neolithic to the Bronze Age (9000-3000 BP) in the Songshan Mountain region, China. [PDF]

PLoS One
Yan L, Wang X, Zhang L, Teng F.
europepmc   +1 more source

Synergistic Effect on Enhanced Oil Recovery in High Salinity Carbonate Reservoirs Using a Novel PEI‐Functionalized Carbon Nanotube Nanocomposite

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Enhancing oil recovery (EOR) in mature reservoirs is hindered by high interfacial tension (IFT) and oil‐wet rock formations, especially under harsh, high‐salinity conditions. This study aims to overcome these limitations by synthesizing a novel carbon nanotube nanocomposite covalently grafted with polyethylenimine and non‐covalently ...
Mohamed Abu Shuheil, Dilipkumar S. Patel, N. Beemkumar, Tariq Abdulkader Alrihaim, Dhirendra Nath Thatoi, Ripendeep Singh, Rohit Kumar, Parminder Singh, Ahmad Khalid   +8 more
wiley   +1 more source