Results 51 to 60 of about 493 (108)

Dissection of the genetic background of childhood onset progressive myoclonic epilepsies [PDF]

, 2012
The progressive myoclonic epilepsies (PMEs) are a clinically and etiologically heterogeneous group of symptomatic epilepsies characterized by myoclonus, tonic-clonic seizures, psychomotor regression and ataxia. Different disorders have been classified as
Kousi, Maria
core  

Genome-Wide Analysis of Prognostic Alternative Splicing Signature and Splicing Factors in Lung Adenocarcinoma

, 2020
Analysis of The Cancer Genome Atlas data revealed that alternative splicing (AS) events could serve as prognostic biomarkers in various cancer types.
Ju-Chen Yen, Ya-Sian Chang, Ya-Ting Lee, Siang-Jyun Tu, Jan-Gowth Chang, Hui-Shan Chiang, Hsin-Yuan Fang   +6 more
core   +1 more source

Modification of short-range interactions in WBS compared to control cells.

, 2013
(A) Close-up of the log2-fold interaction changes in WBS versus Ctrl within the WBSCR. The black line indicates the median of the changes within the WBSCR, which is also displayed at the right of each graph.
Louise Harewood (243128), Robert M. Witwicki (483574), Gérard Didelot (5656783), Jacques Rougemont (69360), Alexandre Reymond (11328), Marion Leleu (483575), Nele Gheldof (236818), Eugenia Migliavacca (117439)   +7 more
core   +1 more source

Structural basis for the ubiquitination of G protein βγ subunits by KCTD5/Cullin3 E3 ligase. [PDF]

Sci Adv, 2023
Jiang W, Wang W, Kong Y, Zheng S.
europepmc   +1 more source

The impact of next generation sequencing in the diagnostic work-up of pediatric epilepsies: a single centre observational cohort study

, 2019
Background Next generation sequencing techniques (targeted gene panels, whole exome sequencing and whole genome sequencing) allowed an increase of molecular diagnosis of genetic epilepsies, an expansion of the phenotypic spectrum of several epileptic ...
MASTRANGELO, Mario
core  

Understanding biogenesis and function of mRNA-derived PIWI-interacting RNAs in the male mouse germline

PIWI-interacting RNAs (piRNAs) are small non-coding RNAs (small RNAs) specific to the animal germline. In mice, they play a crucial role in male fertility, spermatogenesis, and sperm function.
Darques, Marcelle Vanora
core   +1 more source

Converging links between adult-onset neurodegenerative Alzheimer's disease and early life neurodegenerative neuronal ceroid lipofuscinosis? [PDF]

Neural Regen Res, 2023
Klein M, Hermey G.
europepmc   +1 more source

A Global Analysis of the Complex Structural Organization of KCTD Proteins and Their Functional Implications. [PDF]

Int J Mol Sci
Balasco N, Esposito L, Di Micco S, Vitagliano L.   +3 more
europepmc   +1 more source

Exome Sequencing Reveals Genetic Variability and Identifies Chronic Prognostic Loci in Chinese Sarcoidosis Patients. [PDF]

Front Oncol, 2022
Zhang Q, Huang H, Zhang M, Fang C, Wang N, Jing X, Guo J, Sun W, Yang X, Xu Z.   +9 more
europepmc   +1 more source

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls. [PDF]

Genes (Basel)
Cipriano L, Petillo R, Priolo M, D'Ambrosio P.   +3 more
europepmc   +1 more source