Results 191 to 200 of about 132,731 (277)

Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10. [PDF]

JAAD Case Rep, 2023
Kurz B, Koschitzki KT, Hehr U, Germer U, Schreml J, Langhammer F, Schreml S.   +6 more
europepmc   +1 more source

CRISPR/Cas9‐mediated mutagenesis of the white‐eye gene in the tephritid pest Bactrocera zonata

Insect Science, EarlyView.
Abstract Bactrocera zonata is a highly invasive agricultural pest that causes extensive damage to fruit crops. The Sterile Insect Technique (SIT), a species‐specific and environmentally friendly pest control method, significantly benefits from the availability of Genetic Sexing Strains (GSSs) that enable efficient mass production of males for sterile ...
Albert Nazarov, Tamir Partosh, Flavia Krsticevic, Dimitris Rallis, Yael Arien, Guy Ostrovsky, Reut Madar Kramer, Eyal Halon, Alfred M. Handler, Simon W. Baxter, Yoav Gazit, Kostas D. Mathiopoulos, Gur Pines, Philippos A. Papathanos   +13 more
wiley   +1 more source

Dystrophic epidermolysis bullosa caused by novel frameshift mutation in the <i>COL7A1</i> gene: A case report. [PDF]

World J Clin Cases
Yang Y, Guan ZW, Li QF.
europepmc   +1 more source

CRISPR/Cas9‐based white pupae mutant lines in Bactrocera spp. for sterile insect technique applications

Insect Science, EarlyView.
Bactrocera fruit flies are significant horticultural pests that cause major economic losses. A “neoclassical approach” incorporating genome editing via CRISPR/Cas9 to develop genetic sexing strains (GSS) could render the sterile insect technique (SIT) against these pests more efficient and cost‐effective.
Chrysanthi Ioannidou, Maria‐Eleni Gregoriou, Marc F. Schetelig, Elena Drosopoulou, Kostas D. Mathiopoulos, Kostas Bourtzis   +5 more
wiley   +1 more source

Molecular Genetic Analysis of a <i>DMD</i> Frameshift Mutation in a Boy with Duchenne Muscular Dystrophy by MLPA and Sanger Sequencing. [PDF]

Pharmgenomics Pers Med
Chen Q, Zhang W, Zha L.
europepmc   +1 more source

Cenozoic Tectonics Ignite Mitochondrial Codon Innovations Propelling Canid Body Size Evolution and Transcontinental Radiations

Integrative Zoology, EarlyView.
We decode mitochondrial genomes across all extant canids, revealing lineage‐specific codon optimization driven by altitude, predation, and body size. A tripartite framework integrates geological events, metabolic constraints, and adaptive radiation to explain carnivore evolution.
Xiaoyang Wu, Xibao Wang, Yongquan Shang, Yao Chen, Haotian Cai, Tian Xia, Qinguo Wei, Weilai Sha, Honghai Zhang   +8 more
wiley   +1 more source

Whole Exome Sequencing Identifies a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis. [PDF]

Mol Genet Genomic Med
Xiong H, Gao H, Wan J, Xiao J, Luo X, Dong X, Wu Y, Liu T.   +7 more
europepmc   +1 more source

Blubber Thickening Driven by UCP1 Inactivation: Insights from a Cetacean‐Like Transgenic Mouse Model

Integrative Zoology, EarlyView.
UCP1 inactivation of cetaceans in mice drives BAT whitening and iWAT hyperplasia, promoting fat accumulation for aquatic adaptation. Abstract Cetaceans possess thick blubber, a specialized adipose tissue essential for thermal insulation, a streamlined body form, energy storage, and buoyancy. However, the mechanisms that underpin this adaptation are not
Qian Zhang, Yuehua Wang, Hang Zhang, Guiping Xu, Shixia Xu, Guang Yang   +5 more
wiley   +1 more source

Novel <i>SLC16A2</i> Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening. [PDF]

Pharmgenomics Pers Med
Lin P, Liu H, Lou J, Lyu G, Li Y, He P, Fu Y, Zhang R, Zhang Y, Yan T.   +9 more
europepmc   +1 more source

Vitreoretinal complications and surgical outcomes in patients with X‐linked retinoschisis

Acta Ophthalmologica, EarlyView.
Abstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Jonathan Hensman, Leo C. Hahn, Mary J. van Schooneveld, Roselie M. H. Diederen, Filip van den Broeck, Jacoline B. Ten Brink, Alberta A. Thiadens, Maria M. van Genderen, L. Ingeborgh van den Born, Bart P. Leroy, Carel B. Hoyng, Camiel J. F. Boon   +11 more
wiley   +1 more source