Results 91 to 100 of about 747,509 (280)

Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer

BMC Medical Genetics, 2017
Background Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5–10% of cases.
Alsmawal A. Elimam, Mohamed Elmogtba Mouaweia Mohamed Aabdein, Mohamed El-Fatih Moly Eldeen, Hisham N. Altayb, Mohamed Adel Taha, Mohammed N. Nimir, Mohamed D. Dafaalla, Musaab M. Alfaki, Mohamed A. Abdelrahim, Abdelmohaymin A. Abdalla, Musab I. Mohammed, Mona Ellaithi, Muzamil Mahdi Abdel Hamid, Mohamed Ahmed Salih Hassan   +13 more
doaj   +1 more source

Expanding Genetic Code to Generate Human Brain Organoids with Both Vasculature and Microglia‐Like Cells

Advanced Science, EarlyView.
Using genetic code expansion, we engineered vascularized human cerebral organoids (vhCOs) with microglia‐like cells and blood‐brain barrier features. vhCOs recapitulate neurovascular interactions, regional identities, and neuronal subtypes resembling the fetal brain.
Haishuang Lin, Yaqing Wang, Hu Du, Yuxin Qin, Haoyu Zhang, Peng Wang, Lin Wei, Jianhua Qin   +7 more
wiley   +1 more source

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton

Advanced Science, EarlyView.
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Lucie E. Bourne, Aikta Sharma, Scott Dillon, Jacob Keen, Soher N. Jayash, Natalie Crump, Lucinda A.E. Evans, Maya Karmali, Worachet Promruk, Claire E. Clarkin, Sonoko Narisawa, Louise Stephen, Brian L. Foster, José Luis Millán, Colin Farquharson, Katherine A. Staines   +15 more
wiley   +1 more source

Suppression of Nonsense Mutations by New Emerging Technologies

, 2020
Nonsense mutations often result from single nucleotide substitutions that change a sense codon (coding for an amino acid) to a nonsense or premature termination codon (PTC) within the coding region of a gene. The impact of nonsense mutations is two-fold:
Hironori Adachi, Pedro Morais, Yi-Tao Yu
core   +1 more source

CRISPR and Gene Augmentation Rescue Trabecular Meshwork Dysfunction in iPSC Models of Lowe Syndrome

Advanced Science, EarlyView.
By modeling Lowe syndrome using patient‐derived iPSCs, this study establishes a human disease model that faithfully recapitulates OCRL deficiency‐associated ciliary and cytoskeletal defects. The model enables evaluation of both mutation‐agnostic DNA augmentation and CRISPR‐mediated mutation correction strategies, both of which restore OCRL function and
Siyu Chen, Zhiquan Liu, Wenmin Wang, Qing Wang, Tia J. Kowal, Fan Zhang, Grzegorz Walkiewicz, Faruk Hossen, Herbert M. Lachman, Jinqiong Zhou, Yiting Wang, Yang Sun   +11 more
wiley   +1 more source

Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

Annals of Indian Academy of Neurology, 2011
Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described.
Meral Özmen, Cengiz Dilber, Burak Tatli, Nur Aydinli, Mine Çaliskan, Baris Ekici   +5 more
doaj   +1 more source

ANTISENSE MEDIATED DYSTROPHIN READING FRAME RESTORATION [PDF]

, 2010
Exon skipping using antisense oligonucleotides (AONs) has successfully been used to reframe the mRNA in various DMD (Duchenne muscular dystrophy) patients carrying deletions and in the mdx mouse model.
Spitali, Pietro
core  

UGA Nonsense Mutations in Salmonella typhimurium [PDF]

Journal of Bacteriology, 1970
Salmonella typhimurium strain LT-2 carries a weak UGA suppressor activity. This activity prevents the detection of some UGA mutants as auxotrophs and probably accounts for the rarity of his UGA mutants in this strain.
openaire   +2 more sources

Transposable Element Dynamics Drive the Genomic Evolution and Phenotypic Diversification of Allotetraploid Common Carp

Advanced Science, EarlyView.
By integrating 516 whole‐genome resequencing datasets and 236 transcriptomes of allotetraploid common carp, this study establishes the first population‐scale atlas of transposable element (TE) variation in teleost species. TE bursts, relaxed purifying selection, and lineage‐specific loss of ancient insertions shape genome evolution and phenotypic ...
Shuimu Hu, Zhou Jiang, Lin Chen, Gowena Ling Yi Goh, Weijing Li, Qian He, Xintong Chen, Rui Li, Yuxuan Liu, Ning Li, Tao Zhou, Peng Xu   +11 more
wiley   +1 more source

Data from: PTC124 Targets Genetic Disorders Caused by Nonsense Mutations

, 2015
Legend is included on first worksheet of spreadsheet. Methodology for RNA analysis: Quantitative real-time PCR was performed using primers for LUC and dystrophin mRNAs, with the levels of 18S rRNA and GAPDH mRNA serving as normalization factors for the ...
Jacobson, Allan, Spatrick, Phyllis, He, Feng   +2 more
core   +1 more source