Results 61 to 70 of about 4,048 (215)

NQO1‐Mediated Anoikis Resistance and Immune Evasion Define a High‐Risk Multi‐Omic Subtype for Precision Management of T1 High‐Grade Bladder Cancer

Advanced Science, EarlyView.
Multi‐omic profiling of T1 high‐grade bladder cancer identifies a high‐risk subtype (T1HG1) driven by NQO1, which couples anoikis resistance with immune evasion. NQO1 orchestrates macrophage–T cell crosstalk suppression via CXCL9 modulation. Pharmacological NQO1 inhibition with skullcapflavone II enhances cisplatin efficacy, representing a promising ...
Bin Guo, Chunru Xu, Shufan Fu, Qiang Cheng, Juan Li, Linkuo Shang, Gaojie Li, Yang Yang, Ying Wang, Yanqing Gong, Shengwei Xiong, Jian Fan, Changwei Yuan, Mei Zhang, Yifan Zuo, Elena Papaleo, Yue Shi, Yuan Liang, Xuesong Li, Hongzhao Li, Weimin Ci   +20 more
wiley   +1 more source

Master Regulator SMC1A, Stabilized by N6‐Methyladenosine Reader IGF2BP1, Promotes HCC Progression Through Facilitating Enhancer–Promoter Interaction of Nestin

Advanced Science, EarlyView.
IGF2BP1‐mediated m6A stabilization sustains SMC1A expression, enabling cohesin‐associated chromatin regulation of Nestin in hepatocellular carcinoma. This work reveals an epitranscriptomic‐chromatin‐cytoskeletal regulatory axis linked to malignant phenotypes and identifies SMC1A as a biologically relevant vulnerability in HCC.
Zhenxiang Peng, Diguang Wen, Lu Zeng, Lin Lv, Shengtao Liao, Wenguang Zhang, Zhechuan Mei, Chuanfei Li   +7 more
wiley   +1 more source

White horses – non-coding sequences drive premature hair greying and predisposition to melanoma

Upsala Journal of Medical Sciences
The Grey allele in horses is causing premature hair greying and susceptibility to melanoma. The causal mutation is a 4.6 kb tandem duplication in intron 6 of the Syntaxin 17 gene. A recent study demonstrated that the most common allele at the Grey locus (
Leif Andersson
doaj   +1 more source

Single‐Cell Reveal GALNT7‐Dependent Ferroptosis Suppression as a Mechanism of Immunotherapy Resistance in Non‐Small Cell Lung Cancer

Advanced Science, EarlyView.
Integrated clinical and mechanistic analyses identify GALNT7 as a ferroptosis‐suppressive regulator associated with immunotherapy resistance in non‐small cell lung cancer. GALNT7 depletion promotes lipid peroxidation, mitochondrial dysfunction, and ferroptosis, enhances CD8+ T‐cell activation and IFN‐γ production, and sensitizes tumors to PD‐1 blockade,
Jiadi Gan, Qian Zheng, Deng Liu, Ruichao Nie, Menglin Yao, Xiaolong Tang, Renjie Xu, Jinghong Xian, Wenjun Meng, Wenxin Luo, Dan Liu, Guiyi Ji   +11 more
wiley   +1 more source

Genetic architecture of reciprocal CNVs [PDF]

Current Opinion in Genetics & Development, 2013
Copy number variants (CNVs) represent a frequent type of lesion in human genetic disorders that typically affects numerous genes simultaneously. This has raised the challenge of understanding which genes within a CNV drive clinical phenotypes. Although CNVs can arise by multiple mechanisms, a subset is driven by local genomic architecture permissive to
Christelle, Golzio, Nicholas, Katsanis
openaire   +2 more sources

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Evaluation of Idiopathic Choroidal Neovascularization with Indocyanine Green Angiography in Patients Undergoing Bevacizumab Therapy

Journal of Ophthalmology, 2015
Purpose. To examine the clinical implications of change in choroidal neovascularization (CNV) size on indocyanine green (ICG) angiography in subjects with idiopathic CNV undergoing bevacizumab therapy. Methods.
Ryan B. Rush, Sloan W. Rush
doaj   +1 more source