Results 161 to 170 of about 211,660 (314)

Signaling Mutations Negate the Favorable Impact of NPM1 Mutations in Older Patients With Newly Diagnosed Acute Myeloid Leukemia Treated With VEN/HMA

American Journal of Hematology, EarlyView.
ABSTRACT Frameshift mutations in exon 12 of nucleophosmin 1 (NPM1mut) are among the most common mutations in acute myeloid leukemia (AML) and have historically been considered favorable‐risk in the absence of FLT3‐ITD. In the European LeukemiaNet (ELN) 2024 risk‐classification for patients treated with hypomethylating agents plus venetoclax (HMA + VEN),
Fieke W. Hoff, Joshua F. Zeidner, Geeta Torlapati, Deedra Nicolet, Krzysztof Mrózek, Ying Huang, Alexander Li, Rina Li Welkie, Ronan T. Swords, Elie Traer, Eytan M. Stein, Tara L. Lin, Maria R. Baer, Vu H. Duong, William G. Blum, Martha L. Arellano, Wendy Stock, Olatoyosi Odenike, Rebecca L. Olin, Catherine C. Smith, Gary J. Schiller, Emily K. Curran, Onyee Chan, Christine McMahon, Michael Hochman, Kieran Sahasrabudhe, Charles Foucar, Jesus Gonzalez‐Lugo, Brittany Knick Ragon, Shivani V. Handa, Nyla A. Heerema, Timothy Chen, Molly Martycz, Mona Stefanos, Sonja G. Marcus, Leonard Rosenberg, Brian J. Druker, Ross L. Levine, Amy Burd, Ashley O. Yocum, Uma M. Borate, Alice S. Mims, Ann‐Katrin Eisfeld, John C. Byrd, Yazan F. Madanat   +44 more
wiley   +1 more source

Analysis of the Subculture Effect on the <i>Auricularia heimuer</i> Strain 'HWS1908' Based on Transcriptome. [PDF]

J Fungi (Basel)
Han C, Zhang X, Guo Y, Ma Y, Tian S, Dai X, Zhang P.   +6 more
europepmc   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Mutational Activation of ras Genes is Absent in Pediatric Osteosarcoma

, 1995
Activation of ras oncogenes is found in human cancers; overall it is observed in 15% of all neoplasms. The purpose of this study was to assess the extent of involvement of ras oncogenes in osteosarcoma.
García-Delgado, M. (Marina), Villa-Elizaga, I. (Ignacio), Antillon, F. (Federico), Sierrasesumaga, L. (Luis)   +3 more
core  

The dual axis of tumorigenesis: MAPK and PI3K/AKT pathways in papillary thyroid carcinoma. [PDF]

Oncoscience
Rathod G, Parmar P.
europepmc   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Combined Inhibition of HRAS and MEK Induces Tumor Regression and Restores Myogenic Differentiation in HRAS-Mutant Rhabdomyosarcoma. [PDF]

Cancer Res
Odeniyide P, Skaist A, Fenner E, Amirkhanian H, Baker A, Lisok A, Zhang L, Fridman LB, Rojas RI, Hebron KE, Davis C, Zhang X, Feldman G, Angus SP, Thomas CJ, Vaseva AV, Yohe ME, Fertig EJ, Pratilas CA.   +18 more
europepmc   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston, Sandesh C. S. Nagamani, Bradley S. Miller, Katherine A. Rauen, Richard D. Boyce, Salma Musaad, Pilar L. Magoulas   +6 more
wiley   +1 more source

ERBB3 Promotes Malignant Behaviors of Endometrial Cancer Cells with Involvement of the Ras-ERK/MAPK Signaling Pathway. [PDF]

Cancers (Basel)
Liu Y, Li H, Li X, Li M, Li Y.
europepmc   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source