Results 221 to 230 of about 176,215 (308)

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a <i>COL2A1</i> Missense Mutation. [PDF]

Int J Mol Sci
Wu YC, Chen CY, Chen GY, Hsiao CH, Chu WC, Huang JY.   +5 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

Cerebral small vessel disease related to a heterozygous missense mutation in HTRA1: A case report. [PDF]

Medicine (Baltimore)
Gao Y, Zheng Y, Lian J, Zeng L, Zeng L.
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

The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects. [PDF]

Nat Commun
Yuan L, Cheng S, Liu X, Liu W, Xie T, Xie W, Zhang ZC, Han J.   +7 more
europepmc   +1 more source

Assessment of Missense Intolerant Regions (MIRs) in Intrinsically Disordered Proteins (IDPs)

openGenes that are crucial for the function of an organism are depleted of disrupting variants in natural populations, whereas non-essential genes tolerate their accumulation.
RASOULI, SINA
core  

Integrated high‐throughput phenomics and transcriptomics uncover the transcriptional mechanisms underlying rice responses to elevated CO2 concentration and cadmium stress

iMetaOmics, EarlyView.
Developing crop varieties with reduced cadmium (Cd) accumulation under elevated carbon dioxide (eCO2) requires hub gene identification and elucidation of its transcriptional mechanisms. Here, we acquired high‐throughput phenotyping of the rice cultivar Nipponbare across six key developmental stages under Cd stress and three eCO2 concentrations.
Weijun Guo, Hanlin Liu, Dongwei Li, Shang Xie, Yichao Mao, Liwen Yang, Cong Li, Weixuan Wang, Jian Tian, Xiaofeng Gu, Li Pu   +10 more
wiley   +1 more source

Identification and functional study of a novel FOXC1 missense mutation in a Chinese family with Axenfeld-Rieger syndrome. [PDF]

Sci Rep
Gong X, Lei X, Li Z, Xing Y.
europepmc   +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