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84 results on '"MISSENSE MUTATIONS"'

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1. Comprehensive Cohort Analysis of Mutational Spectrum in Early Onset Breast Cancer Patients

2. Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5

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3. Nonsynonymous amino acid changes in the α-chain of complement component 5 influence longitudinal susceptibility to Plasmodium falciparum infections and severe malarial anemia in kenyan children

4. A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.

5. Prediction of the Effects of Missense Mutations on Human Myeloperoxidase Protein Stability Using In Silico Saturation Mutagenesis

6. Allosteric pockets and dynamic residue network hubs of falcipain 2 in mutations including those linked to artemisinin resistance

7. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

8. Determining the unbinding events and conserved motions associated with the pyrazinamide release due to resistance mutations of Mycobacterium tuberculosis pyrazinamidase

9. α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response

10. The MECP2 variant c. 925C>T (p. Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

11. Missense Mutations in Cancer Predisposing Genes: Can We Make Sense of Them?

12. Subcellular localization of mutated β-catenins with different incidences of cis-peptide bonds at the Xaa246-P247 site in HepG2 cells

13. Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

14. Contribution of rare homozygous and compound heterozygous VPS13C missense mutations to dementia with Lewy bodies and Parkinson’s disease

15. In Silico Analysis of a Highly Mutated Gene in Cancer Provides Insight into Abnormal mRNA Splicing: Splicing Factor 3B Subunit 1K700E Mutant

16. Pathogenic perspective of missense mutations of ORF3a protein of SARS-CoV-2

17. Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression.

18. Functional consequences of sequence alterations in the ATM gene

19. Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel ‘hot spot’ in codon 47.

20. Nomenclature of Genetically Determined Myoclonus Syndromes

21. Rare missense variants in the human cytosolic antibody receptor preserve antiviral function

22. Performance of computational methods for the evaluation of Pericentriolar Material 1 missense variants in CAGI-5

23. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer’s disease risk

24. Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants

25. In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses

26. Comprehensive Cohort Analysis of Mutational Spectrum in Early Onset Breast Cancer Patients

27. The sixth international RASopathies symposium : Precision medicine—From promise to practice

28. Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome

29. Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

30. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

31. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

32. A profound computational study to prioritize the disease-causing mutations in PRPS1 gene

33. Lamin A/C-Related Cardiac Disease Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation

34. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

35. SERPINC1 gene mutations in antithrombin deficiency

36. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

37. Functional and structural impact of the most prevalent missense mutations in classic galactosemia

38. Computational and Experimental Approaches to Reveal the Effects of Single Nucleotide Polymorphisms with Respect to Disease Diagnostics

39. MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

40. Evolution- and Structure-Based Computational Strategy Reveals the Impact of Deleterious Missense Mutations on MODY 2 (Maturity-Onset Diabetes of the Young, Type 2)

41. The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study

42. Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity

43. Septin mutations in human cancers

44. Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome

45. Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations

46. Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes

47. Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort

48. Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison

49. Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance

50. Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease