Results 51 to 60 of about 67,683 (260)

Phenotypic and genotypic characterization of single circulating tumor cells in the follow‐up of high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Single circulating tumor cells (sCTCs) from high‐grade serous ovarian cancer patients were enriched, imaged, and genomically profiled using WGA and NGS at different time points during treatment. sCTCs revealed enrichment of alterations in Chromosomes 2, 7, and 12 as well as persistent or emerging oncogenic CNAs, supporting sCTC identity.
Carolin Salmon, Rui P. L. Neves, Nikolas H. Stoecklein, Sven‐Thorsten Liffers, Jens Siveke, Jan D. Kuhlmann, Pauline Wimberger, Paul Buderath, Rainer Kimmig, Sabine Kasimir‐Bauer   +9 more
wiley   +1 more source

Abnormal peripheral blood cell counts in neurofibromatosis type 1

Scientific Reports, 2022
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant disease characterized by neurofibromas with infiltration of mast cells.
Yoshimasa Nobeyama, Ken-ichi Yasuda, Akihiko Asahina   +2 more
doaj   +1 more source

Delivery of Pleckstrin‐Homology Domains Suppresses PI3K/Akt Signaling and Breast Cancer Metastasis

Advanced Science, EarlyView.
Current therapies curb tumor growth but not metastasis. Obscurin, a giant metastasis suppressor lost in breast cancer, restrains PI3K/Akt signaling but is impractical to restore. We deploy a mini‐obscurin, comprising the obscurin‐PH‐domain, which sequesters PI3K‐p85, potently suppressing invasion and metastasis.
Matthew Eason, Anindya Sen, Suhan Cho, Se Jong Lee, Keyata Thompson, Md Musavvir Mahmud, Poornima Dubey, Talia Guardia, Anthony Kim, Stuart Martin, Nathan Wright, Konstantinos Konstantopoulos, Aikaterini Kontrogianni‐Konstantopoulos   +12 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Estrogen activation of microglia underlies the sexually dimorphic differences in Nf1 optic glioma-induced retinal pathology [PDF]

, 2016
Children with neurofibromatosis type 1 (NF1) develop low-grade brain tumors throughout the optic pathway. Nearly 50% of children with optic pathway gliomas (OPGs) experience visual impairment, and few regain their vision after chemotherapy.
Anne C. Solga, Arnold, Avery, Azevedo, Bajenaru, Bondesson, Compton, Daginakatte, Daginakatte, David H. Gutmann, Dennis, Diggs-Andrews, Diggs-Andrews, Fisher, Fisher, Green, Gu, Guadagno, Hegedus, Hyman, Joseph A. Toonen, Kalin-Hajdu, Kappeler, Kuiper, Listernick, Listernick, Neher, Parrilla-Reverter, Revankar, Saijo, Schneider, Simmons, Solga, Tapia-Gonzalez, Tikka, Wu, Yu Ma, Zhao   +37 more
core   +2 more sources

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

Attention Deficit Predicts Intellectual Functioning in Children with Neurofibromatosis Type 1

International Journal of Pediatrics, 2019
Aims. Attention deficit hyperactivity disorder (ADHD) is one of the most frequent neurocognitive impairments in neurofibromatosis type 1 (NF1) and a well-known risk factor for intellectual dysfunction in general.
Magdalena Heimgärtner, Sofia Granström, Karin Haas-Lude, Robert A. Leark, Victor-Felix Mautner, Karen Lidzba   +5 more
doaj   +1 more source

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Dynamical SUSY and R-symmetry breaking in SQCD with massive and massless flavors

, 2008
We show that supersymmetry and R-symmetry can be dynamically broken in a long-lived metastable vacuum of SQCD with massive and massless flavors. The vacuum results from a competition of a (leading) two-loop effect and small "Planck" suppressed higher ...
Giveon, Amit, Katz, Andrey, Komargodski, Zohar, Shih, David   +3 more
core   +1 more source

Energy‐Efficient and Sustainable Design Optimization for Ternary Mixture Separation: A Comparative Analysis of Sequential Iterative Optimization and Non‐Dominated Sorting Genetic Algorithm II

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This study presents a comparative analysis of two optimization approaches: Sequential Iterative Optimization (SIO) and Non‐dominated Sorting Genetic Algorithm II (NSGA‐II) applied to the separation of ternary mixtures (1‐butanol, isobutanol, and 2‐butanol) using Dual‐Column Distillation (DCD) and Dividing‐Wall Column (DWC) processes. Through a
Ruijie Wang, Xinlan Weng, Xiaoxin Gao, Zhimeng Wang, Xiaoyu Kang, Zeyang Li   +5 more
wiley   +1 more source