Results 111 to 120 of about 63,140 (263)

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

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

Chromosome-resolved genome assemblies of Rhodotorula toruloides reveal abnormal chromosomal evolution under artificial culture conditions

Scientific Reports
Rhodotorula toruloides is a basidiomycete yeast known for accumulating lipids within its cells. Owing to its oil-producing potential, many strains of this species have been isolated and studied.
Yuuki Kobayashi, Moriya Ohkuma, Keita Aoki, Naoto Tanaka, Masako Takashima   +4 more
doaj   +1 more source

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome. [PDF]

Am J Med Genet A, 2020
Plesser Duvdevani M, Pettersson M, Eisfeldt J, Avraham O, Dagan J, Frumkin A, Lupski JR, Lindstrand A, Harel T.   +8 more
europepmc   +1 more source

Chromosome‐level genome and methylome of vine tea suggest roles for tandem duplication and CHH hypomethylation in high dihydromyricetin accumulation

iMetaOmics, EarlyView.
A chromosome‐level genome assembly and single‐base resolution methylome of vine tea (Nekemias grossedentata) reveal that lineage‐specific tandem duplications of dihydromyricetin (DHM) biosynthetic genes (NgCHS and NgF3′5′ H) have expanded their copy numbers, providing the genetic basis for high DHM flux.
Yingmei Wu, Hanrui Hu, Qing Ye, Xueqing Chen, Miyuan Tian, Jing Li, Li Lu, Yifei Liu, Yi Shang, Yanling Li, Xingyao Xiong, Junbo Gou   +11 more
wiley   +1 more source

The molecular cytogenetic characterization of Conopophaga lineata indicates a common chromosome rearrangement in the Parvorder Furnariida (Aves, Passeriformes). [PDF]

Genet Mol Biol, 2020
de Oliveira TD, Kretschmer R, Bertocchi NÁ, O'Brien PCM, Ferguson-Smith MA, Garnero ADV, de Oliveira EHC, Gunski RJ.   +7 more
europepmc   +1 more source

Chromosomal Rearrangement [PDF]

, 2020
openaire   +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

Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement

Molecular Cytogenetics
Background Monosomy 18p (MIM: 146390) is a well-known chromosomal disorder associated with intellectual disability, short stature, and non-specific craniofacial features resulting from partial or total deletion of the short arm of chromosome 18.
Ludovico Graziani, Silvia Genovese, Maria Luce Genovesi, Cristiana Di Rosa, Rosalba Di Noi, Sara Loddo, Mario Bengala, Vito Luigi Colona, Antonio Novelli, Giuseppe Novelli, Viola Alesi, Anna Maria Nardone   +11 more
doaj   +1 more source

Gametophytic Abortion in Heterozygotes but Not in Homozygotes: Implied Chromosome Rearrangement during T-DNA Insertion at the ASF1 Locus in Arabidopsis. [PDF]

Mol Cells, 2020
Min Y, Frost JM, Choi Y.
europepmc   +1 more source