Associated Papers
Molecular simulations of paclitaxel binding to mutant β-tubulin: insights into chemotherapy resistance.
Vottero P et al.
Journal of Computer-aided Molecular Design, 2025
Genetic Profiling of Polymicrogyria in a South Indian Cohort.
Iype M et al.
Annals of Indian Academy of Neurology, 2025
40445728 (PubMed )
Supplement: AIAN-28-422_Suppl1.pdf
A remarkable and durable response to tislelizumab treatment of an anaplastic thyroid carcinoma without targetable genomic alterations: a case report.
Chai J et al.
Frontiers in Immunology, 2025
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.
Saini N et al.
Plos Genetics, 2021
33444353 (PubMed )
Supplement: pgen.1009302.s014.xlsx › S5_Table
International consensus recommendations on the diagnostic work-up for malformations of cortical development.
Oegema R et al.
Nature Reviews. Neurology, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
31640808 (PubMed )
Supplement: 13059_2019_1838_MOESM4_ESM.xlsx › Sheet1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.
Lu H et al.
Bmc Cancer, 2018
29506494 (PubMed )
Supplement: 12885_2018_4159_MOESM2_ESM.xlsx › Sheet1
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
Bahi-Buisson N et al.
Brain : a Journal of Neurology, 2014
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
Amrom D et al.
Clinical Genetics, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.
Stottmann RW et al.
Human Molecular Genetics, 2013
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