Results 141 to 150 of about 76,927 (296)

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

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

International Journal of Cancer, EarlyView.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren, Anna Skarin Nordenvall, Alexandra Wachtmeister, Fulya Taylan, Yunxia Lu, Christina Norrby, Anna Lindstrand, Giedre Grigelioniene, Giorgio Tettamanti   +8 more
wiley   +1 more source

Chromosomal rearrangements and transposable elements in locally adapted island Drosophila [PDF]

Chromosomal rearrangements, particularly those mediated by transposable elements (TEs), can drive adaptive evolution by creating chimeric genes, inducing de novo gene formation, or altering gene expression.
Moore, Cathy C., Erlenbach, Theresa R., Turner, Brandon A., Stewart, Nicholas B., Rogers, Rebekah L., Reid, Robert W.   +5 more
core  

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Hyperoside alleviates endometrial stromal cell senescence in unexplained recurrent spontaneous abortion via DHX9‐mediated R‐loop resolution

iMeta, EarlyView.
This study suggests that the food‐derived flavonoid hyperoside may act as a natural DExH‐box helicase 9 (DHX9) modulator, directly targeting Thr419 of DHX9 to help resolve pathological R‐loop accumulation. Consequently, it suppresses cyclic GMP‐AMP synthase‐stimulator of interferon genes (cGAS‐STING)‐driven endometrial stromal senescence and restores ...
Yuepeng Jiang, Hongli Zhao, Xinyi Ding, Haoling Zhang, Yadong Guo, Yiming Ma, Lingyi Cai, Qingnan Fan, Ruisi Peng, Fuyuan Yang, Doblin Sandai, Xianling Cao, Jiali Yao, Wenyi Wang, Zhiheng Lin, Wangzheqi Zhang, Jialin He, Aihua Zhang, Xiaoxuan Zhao   +18 more
wiley   +1 more source

Two near‐complete assemblies reveal R‐subgenome structural and centromeric divergence associated with reproductive isolation in hexaploid triticale

iMeta, EarlyView.
We present two near‐complete triticale genome assemblies and perform pan‐centromere analyses across >200 haplotypes from parental species, synthetic allopolyploids, cultivars, and 337 resequenced accessions, revealing a shared chromatin framework underlying functional centromeres in all three subgenomes, where wheat‐ and rye‐derived CENH3 co‐occupy ...
Yang Liu, Wanna He, Chunhui Wang, Congyang Yi, Tianxin Guo, Congle Zhu, Qian Liu, Fangpu Han   +7 more
wiley   +1 more source

The T‐Cell Response Mechanism in Human Papillomavirus‐Associated Cervical Cancer and New Strategies for Immunotherapy

iNew Medicine, EarlyView.
ABSTRACT Human papillomavirus (HPV) is a double‐stranded DNA virus that infects human skin and mucosal tissues exclusively. The German scientist Harald zur Hausen was awarded the 2008 Nobel Prize in Physiology or Medicine for his discovery of the link between HPV infection and cervical cancer.
Fang Zhu, Farah Nazir, Ying Zhou, Yuhua Shang, Hongliang He, Tengchuan Jin   +5 more
wiley   +1 more source

Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements [PDF]

, 1992
Dyskeratosis congenita (DC) is a rare inherited disorder characterized by bone marrow failure, dystrophic changes in the skin and mucous membranes, and a predisposition to malignancy. The DC locus has been mapped to Xq28.
Bungey, J, Oscier, D, Luzzatto, L, Dokal, I, Williamson, P, Hows, J   +5 more
core  

Chromosomal Rearrangement [PDF]

, 2020
openaire   +1 more source

Metabolic feature profiling and metabolic vulnerability in acute lymphoblastic leukemia

Interdisciplinary Medicine, EarlyView.
For the first time, our study develops a novel metabolic classification and subtyping program, metabolic reprogramming‐based classifier for acute lymphoblastic leukemia, using internal PDT‐ALL‐2016 and external cohorts, which dissects metabolic profiling, clinical outcome, and therapeutic vulnerability for precision metabolic intervention in ALL ...
Xiaojie Liang, Zihong Cai, Bingqing Tang, Zicong Huang, Baiwei Luo, Bingyu Lin, Yunong Yang, Zhihao Jin, Xiaoqing Li, Xiuli Xu, Yeling Deng, Chaoran Lin, Liang Wang, Hongsheng Zhou   +13 more
wiley   +1 more source