Results 221 to 230 of about 176,674 (312)

Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis. [PDF]

Health Sci Rep
Rasool M, Haque A, Alharthi M, Ali T, Karim S, Mira LS, Al-Abbasi F, Aljiffry M, Ghunaim M, Sibiany A, Pushparaj PN.   +10 more
europepmc   +1 more source

Myocardin's Missense Mutation

Journal of Biological Chemistry, 2008
openaire   +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 missense variant Cys559Gly in <i>NOTCH3</i> in CADASIL family and vascular lesions in patients with migraine. [PDF]

Postep Psychiatr Neurol
Jastrzębski K, Kępczyński Ł, Plucińska A, Kowalska-Gałecka M, Gajos A.   +4 more
europepmc   +1 more source

Optical Genome Mapping Reveals Frequent Cryptic Structural Aberrations in Normal Karyotype Acute Myeloid Leukemia

International Journal of Cancer, EarlyView.
Acute myeloid leukemia adult cases often appear cytogenetically normal when analyzed with conventional karyotyping. However, acquired structural variants may escape routine detection. Here, optical genome mapping detected diverse genomic alterations in nearly half of the analyzed cytogenetically normal cases.
Tuuni Turtinen, Andriana Valkama, Christopher Wray, Sandra Vorimo, Hannele Räsänen, Eeva‐Riitta Savolainen, Katri Pylkäs, Tuomo Mantere   +7 more
wiley   +1 more source

Distinct mutational landscapes and phylogenomic insights of the SARS-CoV-2 delta variant in Pakistan and India: Regional evolution, novel mutations, and epidemiological implications. [PDF]

PLoS One
Fiaz N, Basheer A, Zahoor I, Naveed S, Yaqub T.   +4 more
europepmc   +1 more source

Molecular Tumor Boards in Malignant Melanoma: Uncovering Challenges and Opportunities in a Bicenter Retrospective Analysis in Germany

International Journal of Cancer, EarlyView.
Molecular tumor boards (MTB), interdisciplinary teams that use tumor genomic data to guide personalized treatment decisions, have emerged as a promising strategy in melanoma care, although their real‐world clinical impact remains uncertain. This retrospective study evaluated advanced melanoma patients to assess molecularly guided treatment ...
Glenn Geidel, Theresa Lowinus, Patrick Metzger, Rebecca Czurda, Vincent Schipperges, Ulrike Paul, Alessandra Rünger, Julian Kött, Isabel Heidrich, Saskia Lehr, Julia Kühn, Heiko Becker, Cornelius Miething, Martin Werner, Silke Laßmann, Justus Duyster, Tilman Brummer, Ronald Simon, Winfried Alsdorf, Maximilian Christopeit, Carsten Bokemeyer, Kilian Eyerich, Stefan W. Schneider, David Rafei, Melanie Börries, Frank Meiss, Christoffer Gebhardt   +26 more
wiley   +1 more source

Patient‐derived organoid‐immune co‐cultures integrated with multi‐omics reveal immunotherapy resistance mechanisms in urothelial carcinoma

iMeta, EarlyView.
Immunotherapy resistance presents a formidable challenge in tumor biology. While fibroblast growth factor receptor 3 (FGFR3) serves as a pivotal oncogenic driver in a multitude of cancers, the exploration of its role in immune checkpoint inhibitor (ICI) resistance remains scarce, thus impeding a deeper understanding of the tumor immune microenvironment
Shan Jiang, Yuxuan Song, Yun Peng, Ran Yan, Yunze Niu, Baoqiang Chen, Jiaxing Lin, Jilin Wu, Shixiang Wang, Yiqing Du, Caipeng Qin, Yihan Lin, Tao Xu   +12 more
wiley   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Expanding the Mutation Spectrum of Non-Syndromic Retinitis Pigmentosa in Consanguineous Pakistani Families: Unraveling Novel Pathogenic Variants in <i>RP1, PDE6B</i>, and <i>PRCD</i> Genes for Precision Diagnosis. [PDF]

Genes (Basel)
Shan T, Mukhtar N, Ullah SH, Ullah A, Khan AA, Li Y, Wang M, Tehreem R, Aziz A, Afshan K, Chen R, Firasat S.   +11 more
europepmc   +1 more source