New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9.

Nature communications·2023

Cerebral perfusion and the risk of cognitive decline and dementia in community dwelling older people.

Cerebral circulation - cognition and behavior·2022

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.

Biochimica et biophysica acta. Molecular basis of disease·2022

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

Neurologia·2022

The Effect of Multidomain Interventions on Global Cognition, Symptoms of Depression and Apathy - A Pooled Analysis of Two Randomized Controlled Trials.

The journal of prevention of Alzheimer's disease·2022

GSK3-beta as a candidate therapeutic target in soft tissue sarcomas.

Journal of hematology & oncology·2021

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Human mutation·2026

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Human mutation·2026

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human mutation·2026

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Human mutation·2026

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Human mutation·2026

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Human mutation·2026

Multiscale structural evolution of proline-rich protein genes shapes primate salivary defenses.

Molecular biology and evolution·2026

First validation of kdr-based pyrethroid resistance detection in the emerging vector Culex perexiguus.

Acta tropica·2026

Detecting poliovirus sequences in the sequence read archive database using bioinformatics tools.

Frontiers in bioinformatics·2026

PLAG1 Promotes Proliferation and Differentiation of Sujiang Pig MuSCs: Insights from Whole-Transcriptome and ceRNA Network Analyses.

Veterinary sciences·2026

Phenotypic and biochemical characterization of the class C β-lactamase, PAC-1.

The Journal of antimicrobial chemotherapy·2026

Folding states of transit peptides and mature peptides in the cytosol: implications for the import-competent state of preproteins.

Plant physiology·2026

Related Experiment Videos

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

Related Concept Videos

Cell cycle arrest and p53 prevent ON-target megabase-scale rearrangements induced by CRISPR-Cas9.

Cerebral perfusion and the risk of cognitive decline and dementia in community dwelling older people.

Hepatocyte-like cells differentiated from methylmalonic aciduria cblB type induced pluripotent stem cells: A platform for the evaluation of pharmacochaperoning.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

The Effect of Multidomain Interventions on Global Cognition, Symptoms of Depression and Apathy - A Pooled Analysis of Two Randomized Controlled Trials.

GSK3-beta as a candidate therapeutic target in soft tissue sarcomas.

Functional Validation of a Novel Homozygous TTN Splice-Site Variant Reveals Aberrant Splicing in Hypertrophic Cardiomyopathy.

Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the Human MCPH1 Gene: Systematic In Silico Predictions and Implications for Structure and Function.

Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.

Human Variation-Informed Prioritization of MPHOSPH6 in Lung Adenocarcinoma: A Source-Aware Multiomics Evidence Framework.

Computational Characterization of Pathogenic LMNA Missense Variants: Structural Instability, Altered Binding, and Conformational Dynamics.

Identification of PD-1-Related Genes as Prognostic Biomarkers in Lung Adenocarcinoma.

Multiscale structural evolution of proline-rich protein genes shapes primate salivary defenses.

First validation of kdr-based pyrethroid resistance detection in the emerging vector Culex perexiguus.

Detecting poliovirus sequences in the sequence read archive database using bioinformatics tools.

PLAG1 Promotes Proliferation and Differentiation of Sujiang Pig MuSCs: Insights from Whole-Transcriptome and ceRNA Network Analyses.

Phenotypic and biochemical characterization of the class C β-lactamase, PAC-1.

Folding states of transit peptides and mature peptides in the cytosol: implications for the import-competent state of preproteins.

Related Experiment Videos

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

Related Concept Videos

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