Results 11 to 20 of about 640,277 (286)

Análisis genético y molecular del síndrome de Maroteaux-Lamy [PDF]

, 2008
[spa] Esta tesis es una contribución al conocimiento del síndrome de Maroteux-Lamy en el terreno de la genética molecular. El síndrome de Maroteaux-Lamy o mucopolisacaridosis de tipo VI (MPS VI) es una grave enfermedad hereditaria muy poco frecuente en ...
Garrido Fernández, Elena
core   +6 more sources

Socio-Digital Nonsense [PDF]

, 2021
Socio-Digital Nonsense is a bi-column paper that references the dualistic systems upon which much Western thought is premised; however, the implementation of its 'sense' and 'nonsense' columns is proffered as a stratagem to disrupt the striations of ...
Allen, Marilyn
core   +6 more sources

Identifying Potent Nonsense-Mediated mRNA Decay Inhibitors with a Novel Screening System

Biomedicines, 2023
Nonsense-mediated mRNA decay (NMD) is a quality control mechanism that degrades mRNAs carrying a premature termination codon. Its inhibition, alone or in combination with other approaches, could be exploited to develop therapies for genetic diseases ...
Julie Carrard, Fiona Ratajczak, Joséphine Elsens, Catherine Leroy, Rebekah Kong, Lucie Geoffroy, Arnaud Comte, Guy Fournet, Benoît Joseph, Xiubin Li, Sylvie Moebs-Sanchez, Fabrice Lejeune   +11 more
doaj   +1 more source

Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene

Stem Cell Research, 2023
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either TSC1 or TSC2.
Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niida   +4 more
doaj   +1 more source

PTC124 Rescues Nonsense Mutation of Two Tumor Suppressor Genes NOTCH1 and FAT1 to Repress HNSCC Cell Proliferation

Biomedicines, 2022
(1) Background: PTC124 (Ataluren) is an investigational drug for the treatment of nonsense mutation-mediated genetic diseases. With the exception of the TP53 tumor suppressor gene, there has been little research on cancers with nonsense mutation.
Ming-Han Wu, Rui-Yu Lu, Si-Jie Yu, Yi-Zhen Tsai, Ying-Chen Lin, Zhi-Yu Bai, Ruo-Yu Liao, Yi-Chiang Hsu, Chia-Chi Chen, Bi-He Cai   +9 more
doaj   +1 more source

A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. [PDF]

PLoS ONE, 2013
PURPOSE: This study was intended to identify the disease causing genes in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.
Fang Lu, Lulin Huang, Chuntao Lei, Guiquan Sha, Hong Zheng, Xiaoqi Liu, Jiyun Yang, Yi Shi, Ying Lin, Bo Gong, Xianjun Zhu, Shi Ma, Lifeng Qiao, He Lin, Jing Cheng, Zhenglin Yang   +15 more
doaj   +1 more source

Heat-induced seizures, premature mortality, and hyperactivity in a novel Scn1a nonsense model for Dravet syndrome

Frontiers in Cellular Neuroscience, 2023
Dravet syndrome (Dravet) is a severe congenital developmental genetic epilepsy caused by de novo mutations in the SCN1A gene. Nonsense mutations are found in ∼20% of the patients, and the R613X mutation was identified in multiple patients.
Anat Mavashov, Anat Mavashov, Marina Brusel, Marina Brusel, Jiaxing Liu, Victoria Woytowicz, Haneui Bae, Ying-Hsin Chen, Vardhan S. Dani, Elena Cardenal-Muñoz, Vittoria Spinosa, José Ángel Aibar, Moran Rubinstein, Moran Rubinstein, Moran Rubinstein   +14 more
doaj   +1 more source

Nonsense mutation suppression is enhanced by targeting different stages of the protein synthesis process.

PLoS Biology, 2023
The introduction of premature termination codons (PTCs), as a result of splicing defects, insertions, deletions, or point mutations (also termed nonsense mutations), lead to numerous genetic diseases, ranging from rare neuro-metabolic disorders to ...
Amnon Wittenstein, Michal Caspi, Ido Rippin, Orna Elroy-Stein, Hagit Eldar-Finkelman, Sven Thoms, Rina Rosin-Arbesfeld   +6 more
doaj   +1 more source

Functional recovery of a novel knockin mouse model of dysferlinopathy by readthrough of nonsense mutation

Molecular Therapy: Methods & Clinical Development, 2021
Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo, Eun Kyoung Kim, Jaeil Choi, Dae-Seong Kim, Jin-Hong Shin   +4 more
doaj   +1 more source

A novel variant in PAX6 as the cause of aniridia in a Chinese family

BMC Ophthalmology, 2021
Background Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly. Methods The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree.
X Jin, W Liu, LH Qv, WQ X, HB Huang
doaj   +1 more source