Results 221 to 230 of about 1,703,111 (346)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Clinical, Laboratory, and Molecular Characteristics of <i>GPD1</i> Gene Variants: A Cause of Hepatomegaly and Hepatic Steatosis in Early Childhood. [PDF]

Gastroenterol Res Pract
Alharbi M, Alasmari A, Alkasim S, Al-Hussaini A.   +3 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

A novel compound heterozygous mutation in <i>ADAMTS17</i> identified in a Chinese family with Weill-Marchesani syndrome. [PDF]

Int J Ophthalmol
Wu HY, Liu SW, Liu Z, Pei C, Wu CR, Gao S.   +5 more
europepmc   +1 more source

Restoring expression of wild-type p53 suppresses tumor growth but does not cause tumor regression in mice with a p53 missense mutation.

Journal of Clinical Investigation, 2011
Yongxing Wang, Young-Ah Suh, Maren Y. Fuller, J. Jackson, S. Xiong, Tamara Terzian, A. Quintás-Cardama, J. Bankson, A. El-Naggar, G. Lozano   +9 more
semanticscholar   +1 more source

Immune, molecular and genetic profiles of gastric signet ring cell carcinoma: Recent progress and future challenges

International Journal of Cancer, EarlyView.
Abstract Gastric signet ring cell carcinoma (GSRCC) is a special type of gastric cancer common in young women. Diffuse gastric cancer (DGC) begins with intramucosal lesions comprising differentiated GSRCC cells. Genetically, GSRCC and DGC are clonally identical, with their morphology influenced by extracellular Wnt signaling.
Qian Wang, Shuai Zhou, Xiongchao Fang, Xianli He, Gang Wang, Nan Wang   +5 more
wiley   +1 more source

First identification of the rare FH-Q185R germline mutation in a Chinese HLRCC patient: A case report and literature review. [PDF]

SAGE Open Med Case Rep
Zhang L, Gao G, Yuan M, Cui H, Zhu M, Ling B, Chen L, Liu H.   +7 more
europepmc   +1 more source

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case.

Neurobiology of Aging, 2011
A. Chiò, A. Calvo, C. Moglia, I. Ossola, M. Brunetti, L. Sbaiz, Shiao-lin Lai, Yevgeniya A. Abramzon, B. Traynor, G. Restagno   +9 more
semanticscholar   +1 more source

SUMOylation regulates tumorigenesis and progression: Molecular mechanisms and therapeutic applications

Interdisciplinary Medicine, EarlyView.
SUMOylation, a dynamic post‐translational modification, acts as a master regulator at the heart of tumor malignancy. Our work delineates how the SUMOylation cycle—mediated by E1/E2/E3 enzymes and reversed by SENPs—orchestrates multiple hallmarks of cancer. The central pathway converges on three critical pathological axes: 1.
Yimao Wu, Zichang Chen, Yinting Hu, Gokhan Zengin, Qian Zhang, Meng‐Yao Li, Wenlong Sun   +6 more
wiley   +1 more source

Alpha‐Synuclein Promotes Anterograde Vesicle Transport in Melanocytes and Melanoma Cells: A Pro‐Survival Function

Journal of the Chinese Chemical Society, EarlyView.
Model for how α‐syn modulates the positioning of endolysosomes in melanoma cells. (a) α‐syn tethers endolysosomes to the plasma membrane, a last step in anterograde transport. (b) Loss of α‐syn expression causes the loss of the tethering function, which leads to perinuclear vesicle clustering. Reproduced from the open access article.
Stephan N. Witt
wiley   +1 more source