Results 11 to 20 of about 132,731 (277)

The shared frameshift mutation landscape of microsatellite-unstable cancers suggests immunoediting during tumor evolution

Nature Communications, 2020
DNA mismatch repair (MMR)-deficient cancers with microsatellite-instability are characterized by a high load of frameshift mutation-derived neoantigens. Here, by mapping the frameshift mutation landscape and predicting the immunogenicity of the resulting
Alexej Ballhausen, Moritz Jakob Przybilla, Michael Jendrusch, Saskia Haupt, Elisabeth Pfaffendorf, Florian Seidler, Johannes Witt, Alejandro Hernandez Sanchez, Katharina Urban, Markus Draxlbauer, Sonja Krausert, Aysel Ahadova, Martin Simon Kalteis, Pauline L. Pfuderer, Daniel Heid, Damian Stichel, Johannes Gebert, Maria Bonsack, Sarah Schott, Hendrik Bläker, Toni Seppälä, Jukka-Pekka Mecklin, Sanne Ten Broeke, Maartje Nielsen, Vincent Heuveline, Julia Krzykalla, Axel Benner, Angelika Beate Riemer, Magnus von Knebel Doeberitz, Matthias Kloor   +29 more
doaj   +1 more source

SLC20A2-Associated Idiopathic basal ganglia calcification (Fahr disease): a case family report

BMC Neurology, 2022
Background Idiopathic basal ganglia calcification (IBGC) is a genetic disorder of the nervous system commonly known as Fahr disease. IBGC patients with a genetic background are considered to have primary familial brain calcification (PFBC), also known as
Meiying Li, Qin Fu, Liangxu Xiang, Yingwei Zheng, Wenjing Ping, Yongjun Cao   +5 more
doaj   +1 more source

Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum

Frontiers in Integrative Neuroscience, 2023
A 24-year-old man presented with insidious onset progressive gait disturbance and was finally diagnosed with autosomal recessive hereditary spastic paraplegia. Two novel mutations, including a frameshift mutation (c.5687_5691del) and a non-sense mutation
Ji-Qing Duan, Hui Liu, Jia-Qiao Wu
doaj   +1 more source

Intratumoral heterogeneity for inactivating frameshift mutation of CUX1 and SIRT1 genes in gastric and colorectal cancers

Polish Journal of Pathology, 2017
Both CUX1 and SIRT1 are considered tumor suppressor genes (TSGs), but it is not known whether CUX1 and SIRT1 alterations are different between high microsatellite instability (MSI-H) and microsatellite stable MSI (MSS) cancers.
Yun Sol Jo, Min Sung Kim, Nam Jin Yoo, Sug Hyung Lee   +3 more
doaj   +1 more source

Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family

Molecular Genetics & Genomic Medicine, 2020
Background Polysyndactyly (PSD) is an autosomal dominant genetic limb malformation caused by mutations. Methods Whole exome sequencing and Sanger sequencing were used to determine the mutations in PSD patients.
Lishan Zhang, Xiaobin Chen, Lanwei Xu, Shibing Guan, Dehua Wang, Yanliang Lin, Zengtao Wang   +6 more
doaj   +1 more source

A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer. [PDF]

PLoS ONE, 2015
Next-generation sequencing technology allows simultaneous analysis of multiple susceptibility genes for clinical cancer genetics. In this study, multiplex genetic testing was conducted in a Chinese family with multiple cases of cancer to determine the ...
Liu Yang, Guosheng Wang, Xinyi Zhao, Song Ye, Peng Shen, Weilin Wang, Shusen Zheng   +6 more
doaj   +1 more source

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

FMCGP: frameshift mutation cartesian genetic programming [PDF]

Complex & Intelligent Systems, 2021
AbstractCartesian Genetic Programming (CGP) is a variant of Genetic Programming (GP) with the individuals represented by a two-dimensional acyclic directed graph, which can flexibly encode many computing structures. In general, CGP only uses a point mutation operator and the genotype of an individual is of fixed size, which may lead to the lack of ...
Wei Fang, Mindan Gu
openaire   +1 more source

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

Indian Journal of Ophthalmology, 2020
A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus.
Agnes Selina, Deepa John, Lakshmi Loganathan, Vrisha Madhuri   +3 more
doaj   +1 more source

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption [PDF]

, 2009
Hereditary folate malabsorption (HFM) is a rare autosomal recessive disorder which is characterized by impaired intestinal folate malabsorption and impaired folate transport into the central nervous system.
Cole, Trevor, Kurian, Manju A., Maher, Eamonn R., Meyer, Esther, Pasha, Shanaz, Trembath, Richard C.   +5 more
core   +2 more sources