Results 141 to 150 of about 202,778 (267)

Prevalence of MSI‐H/dMMR Colorectal Cancer in Japan: Data From the Clinical Study Group of the University of Osaka‐Colorectal Registry

Annals of Gastroenterological Surgery, EarlyView.
Using a multicenter Japanese colorectal cancer cohort from 25 institutions, we analyzed 1464 patients across all disease stages and tumor locations to determine the prevalence and clinicopathological features of MSI‐H/dMMR colorectal cancer. MSI‐H/dMMR tumors accounted for 9.4% of cases overall, were present in 22% of right‐sided colon cancers, and ...
Yoshihiro Morimoto, Mamoru Uemura, Yoshinori Kagawa, Hidekazu Takahashi, Masayuki Hiraki, Yozo Suzuki, Shinichi Yoshioka, Mitsuyoshi Tei, Shu Okamura, Yukako Mokutani, Atsushi Naito, Shinji Tokuyama, Takamichi Komori, Akinobu Yasuyama, Genta Sawada, Yujiro Fujie, Shinya Yamashita, Naotsugu Haraguchi, Yusuke Matsuura, Chu Matsuda, Yoshinao Chinen, Tatsushi Shingai, Katsuki Danno, Nobuo Tanaka, Kazuya Sakata, Kohei Murata, Yuichiro Doki, Hidetoshi Eguchi   +27 more
wiley   +1 more source

Accelerating Biosensor Discovery: A Computationally‐Driven Pipeline for Microplastics Monitoring

Advanced Intelligent Discovery, EarlyView.
A computationally guided pipeline unites molecular simulation, synthetic biology, electrochemical engineering, and machine learning to accelerate biosensor discovery. A Bacillus anthracis carbohydrate‐binding module is used to develop a high‐performance micro‐ and nanoplastics sensor with greatly reduced error and variability.
Gabriel X. Pereira, Marcos de C. Leite, Pedro H. M. Zanineli, Juliana N. Y. Costa, Débora M. Cunha, Sophia P. Serra, Pedro H. Sophia, Flávio M. Shimizu, Yasmin W. Moura, Célio C. Oliveira, Gabriel R. Schleder, Gabriela F. Persinoti, Leandro Merces, Renato S. Lima   +13 more
wiley   +1 more source

Spliceosomal mutation drives melanoma tumorigenesis via lineage-specific RAS activation. [PDF]

Sci Adv
Jiang R, Xing P, Xie J, Bai G, Zhang Y, Hou P, Luo H, Ma Y, Liu R, Zheng Y, Chen X, Jiang B, Huang J, Zhang Y, Shain AH, Lei M, Judson-Torres RL, Ye J, Liu Z, Zeng H.   +19 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

Intestinal gene expression in heat-stressed broilers selected for high water efficiency. [PDF]

Front Physiol
Lassiter K, Aloui L, Greene ES, Maqaeda M, Schaeffer K, Roach B, Tabler T, Wideman RF, Orlowski S, Dridi S, Bottje WG.   +10 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

Genetic landscape of stage II melanoma identifies CBL as a new driver gene and prognostic biomarker. [PDF]

Br J Cancer
Lindner ES, Admard J, Demidov G, Armeanu-Ebinger S, Sinnberg T, Niessner H, Amaral T, Garbe C, Forschner A, Kelemen O, Hilke FJ, Bonzheim I, Röcken M, Rieß O, Ossowski S, Schroeder C.   +15 more
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

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +2 more sources

m6A methylation of circKPNA2 promotes colorectal carcinogenesis by activating the RIN1-Ras pathway. [PDF]

Epigenetics
Tian J, Jiang Z, Huang Q, Wang J, He Y.
europepmc   +1 more source