Results 131 to 140 of about 462,672 (344)

X chromosome long arm deletion in a patient with Down's syndrome. [PDF]

, 1971
Fred Luthardt, Catherine G. Palmer
openalex   +1 more source

A rare case of patient with neurofibromatosis type 1 in a genotype–phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

, 2021
Yethindra Vityala, Tugolbai Tagaev, Elmira Mamytova, Elmira Mainazarova, Cholpon Dzhumakova, Asel Namazbekova   +5 more
openalex   +1 more source

3D Chromatin Architecture Provides Insights Into Leaf Trait Variation Among Pear Species

Advanced Science, EarlyView.
ABSTRACT Three‐dimensional (3D) chromatin architecture plays a fundamental role in eukaryotic gene regulations, its functional significance in perennial fruit trees remains poorly characterized despite extensive applications in crop genomics. Here, we developed high‐resolution (∼5 kb) Hi‐C maps of Pyrus and compared 3D genomic architecture of three ...
Yueyuan Liu, Chenhui Han, Cheng Xue, Manyi Sun, Bobo Song, Yongsong Xue, Guangyan Yang, Shaozhuo Xu, Wei Wei, Jiaming Li, Runze Wang, Jun Wu   +11 more
wiley   +1 more source

Prenatal ultrasound assisted diagnosis of de-novo terminal 7q deletion syndrome: A case report with literature review

Radiology Case Reports
Terminal 7q deletion is a rare chromosomal anomaly resulting from partial deletion of the long arm of chromosome 7. 7q terminal deletion syndrome results in variable clinical phenotypes, such as microcephaly, holoprosencephaly, craniofacial abnormalities,
Kavita Aneja, MD, Sweta Krishnan, MD
doaj   +1 more source

Association of the family environment with behavioural and cognitive outcomes in children with chromosome 22q11.2 deletion syndrome: Family environment in children with 22q11DS

, 2020
K. Curtiss, V. Shashi, S. R. Hooper, K. Schoch, J. Hersh, T. M. Allen   +5 more
openalex   +1 more source

Design of Safe and Efficient Adenine Base Editors via Protein Language Model Screening for Osteoarthritis Treatment

Advanced Science, EarlyView.
ABSTRACT Base editors enable precise genome modification and have emerged as a promising therapeutic approach for correcting diseases caused by single‐nucleotide variants. While the current efficient version of adenine base editors (ABEs), such as ABE8e, exhibits exceptional efficiency for A‐to‐G conversions, their clinical translation is hindered by ...
Jiawei Yao, Dalin Chen, Ziyi Zhang, Jingxuan Ren, Chengcheng Zhao, Shengfang Wang, Mengyu Shang, Dawei Jiang, Yinuo Li, Su'an Tang, Kai Li, Xiaohui Zhang, Xiaogang Wang   +12 more
wiley   +1 more source

Genome Editing Method for the Anaerobic Magnetotactic Bacterium Desulfovibrio magneticus RS-1. [PDF]

, 2018
Magnetosomes are complex bacterial organelles that serve as model systems for studying bacterial cell biology, biomineralization, and global iron cycling. Magnetosome biogenesis is primarily studied in two closely related Alphaproteobacteria of the genus
Grant, Carly R, Komeili, Arash, LeGault, Kristen N, Rahn-Lee, Lilah   +3 more
core  

A population study of chromosome 22q11 deletions in infancy [PDF]

, 1998
Judith Goodship, I Cross, Jesse Li‐Ling, C. Wren   +3 more
openalex   +1 more source

N4‐acetylcytidine in LncRNA Gm26917 Promotes Translation in Female Germline Stem Cells by Recruiting Ribosomal Protein mRNA via EEF1A1

Advanced Science, EarlyView.
This work establishes that ac4C modification on lncRNA Gm26917 governs its spatial interactions with Rpl10 mRNA, and RBP EEF1A1 mediates the interaction between Gm26917 and Rpl10. It elucidates a novel ac4C‐Gm26917‐EEF1A1‐Rpl10 axis in FGSC maintenance both in vitro and in vivo, and provides a potential molecular target for modulating germ cell ...
Xinyue Li, Xiaopeng Hu, Ji Wu
wiley   +1 more source

Characterization of a rare analphoid supernumerary marker chromosome in mosaic [PDF]

, 2015
publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA.
Alves, C., Amorim, M., Brito, F., Correia, H., Ferreira, C., Marques, B., Pedro, S.   +6 more
core