Results 121 to 130 of about 112,624 (263)

Correction of Ineffective Erythropoiesis and Normalization of Iron Homeostasis After Exagamglogene Autotemcel in Transfusion‐Dependent β‐Thalassemia

American Journal of Hematology, EarlyView.
ABSTRACT Exagamglogene autotemcel (exa‐cel) is a one‐time, ex vivo, CRISPR‐Cas9 gene edited cell therapy approved for patients with transfusion dependent β‐thalassemia (TDT) aged 12–35 years. In a Phase 3 study (CLIMB THAL‐111), exa‐cel treatment resulted in reactivation of fetal hemoglobin and increases in total hemoglobin, leading to transfusion ...
Sujit Sheth, Selim Corbacioglu, Josu de la Fuente, Mattia Algeri, Joachim Rupprecht, Kevin H. M. Kuo, Ami J. Shah, Peter Lang, Hayley Merkeley, Ben Carpenter, Markus Y. Mapara, Robert I. Liem, Stephan Grupp, Yogi Chopra, Amanda M. Li, Janet L. Kwiatkowski, Melanie Kirby‐Allen, Maria Domenica Cappellini, Antonis Kattamis, Sakellarios Zairis, Tina Liu, William Hobbs, Haydar Frangoul, Franco Locatelli, Roland Meisel, on behalf of the CLIMB THAL‐111 and CLIMB‐131 Study Groups   +25 more
wiley   +1 more source

Advanced natural-based interaction for the ITAlian language: LLaMAntino-3-ANITA. [PDF]

Sci Rep
Polignano M, Basile P, Semeraro G.
europepmc   +1 more source

The Changing Landscape of Maintenance Therapy in Newly Diagnosed Multiple Myeloma: A Systematic Review With Network Meta‐Analysis of the European Myeloma Network (EMN)

American Journal of Hematology, EarlyView.
Our meta‐analysis showed significant improvement of PFS with lenalidomide, proteasome inhibitors, and CD38‐based therapies. A significant OS benefit was noted only with lenalidomide in transplant‐eligible (TE) patients, while CD38‐directed therapy showed a trend toward improved OS.
Heinz Ludwig, Evangelos Terpos, Francesca Gay, Niels W. C. J. van de Donk, Sarah Bernhard, Monika Engelhardt, Gordon Cook, Fredrik Schjesvold, Hermann Einsele, Graham Jackson, Charlotte Pawlyn, María‐Victoria Mateos, Sonja Zweegman, Martin Schreder, Meral Beksaç, Christoph Driessen, Enrique M. Ocio, Rakesh Popat, Leo Rasche, Cyrille Touzeau, Pellegrino Musto, Annemiek Broijl, Meletios Dimopoulos, Roman Hajek, Mario Boccadoro, Pieter Sonneveld   +25 more
wiley   +1 more source

Bell's Inequalities and Entanglement in Corpora of Italian Language. [PDF]

Entropy (Basel)
Aerts D, Geriente S, Leporini R, Sozzo S.   +3 more
europepmc   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Translation and Validation of the Gothenburg Trismus Questionnaire-2 into Italian Language. [PDF]

J Clin Med
Frosolini A, Tuomi L, Massarelli O, Finizia C, Benedetti S, Catarzi L, Lovato A, Gabriele G, Gennaro P.   +8 more
europepmc   +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

An Overview of Referential Process Linguistic Measures in the Italian Language: Common Elements and Innovative Results. [PDF]

J Psycholinguist Res
Mariani R, Di Trani M, Solano L, Renzi A.   +3 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

A reliability and content analysis of Italian language anorexia nervosa-related websites. [PDF]

Risk Manag Healthc Policy, 2019
Bragazzi NL, Prasso G, Re TS, Zerbetto R, Del Puente G.   +4 more
europepmc   +1 more source