Results 151 to 160 of about 147,877 (305)

Neuron‐Derived MIF Engages VCAM1 to Fuel a Self‐Amplifying CXCL8 Loop That Drives Perineural Invasion and Metastasis in Gastric Cancer

Advanced Science, EarlyView.
Neuron‐derived MIF binds VCAM1 on gastric cancer cells and activates ERK/STAT3 signaling, leading to CXCL8 transcription and secretion. Tumor‐derived CXCL8 subsequently stimulates neuronal CXCR2 to enhance MIF production, establishing a self‐amplifying MIF–VCAM1–CXCL8 positive‐feedback loop that promotes perineural invasion, tumor progression, and ...
Xunjun Li, Zhongya Zhai, Haiyi Yu, Renjie Qiu, Fengyu Li, Luxi Xiao, Boxi Huang, Huiying Liu, Jiayong He, Bowen Cai, Jiawen Chen, Jiang Yu, Guoxin Li, Tao Chen   +13 more
wiley   +1 more source

Gel‐Amin for Improving Extracellular Recordings of Cardiomyocytes in a 3D Microphysiological System

Advanced Electronic Materials, EarlyView.
This work combines a conductive collagen‐based hydrogel with a laser‐cut and assembly technique to fabricate microphysiological systems that improve extracellular recordings of cardiomyocytes in 3D on microelectrode arrays. The inclusion of choline acrylate into GelMA imparts a higher electrical conductivity and improves the signal‐to‐noise ratio of on‐
Dominic Pizzarella, Katelyn Neuman, Nolan Burson, Abigail N. Koppes, Ryan A. Koppes   +4 more
wiley   +1 more source

Management of Iron Overload in Infants and Toddlers With Diamond–Blackfan Anemia Syndrome: A French–Italian Study

American Journal of Hematology, EarlyView.
ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio, Baptiste Lecalvez, Emanuela Garelli, Coralie Mallebranche, Adriana Carando, Marie‐Pierre Castex, Nathalie Garnier, Marco Zecca, Nathalie Aladjidi, Elisa Bertoni, Arthur Sterin, Maria Licciardello, Anne Sirvent, Antonella Sau, Isabelle Marie, Benedicte Bruno, Lydie M. Da Costa, Franca Fagioli, Paola Quarello, Thierry Leblanc   +19 more
wiley   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

Neonatal Screening for CAH in Sweden-Results of Implementing Second-Tier Testing. [PDF]

Int J Neonatal Screen
Engström K, Zetterström RH, Wedell A, Nordenström A.   +3 more
europepmc   +1 more source

Screening Blind Spot: Missing Preterm Infants in the Detection of Congenital Hypothyroidism

Congenital hypothyroidism (CH) is a critical condition in infancy where early detection is vital for optimal development. This study aimed to evaluate the sensitivity of Aotearoa New Zealand's Newborn Metabolic Screening "Low Birth Weight" protocol for ...
Hofman, Paul, Brown, Ashleigh, Webster, Dianne, Heather, Natasha   +3 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Extended Lombardy's Neonatal Screening Dataset. [PDF]

Sci Data
Lopiano G, Alberti L, Cereda C, Cabitza F.   +3 more
europepmc   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil. [PDF]

Genet Mol Biol
Oliveira Netto AB, Hentschke-Lopes M, Pasetto FB, Anjos TARD, Andrade GS, Sousa MIA, Moraes IDS, Trapp FB, Brusius-Facchin AC, Saute JAM, Becker MM, Coutinho VLS, Vilella-Arias S, Ponci V, França Junior MC, Galera MF, Amorim T, Giugliani R.   +17 more
europepmc   +1 more source