230 results on '"Glycoproteins -- Genetic aspects"'
Search Results
2. ALS-causing SOD1 mutations H46R and G85R form similar novel amyloid fibril structures and promote ferroptosis in cells
3. Reports from University of Belgrade Advance Knowledge in Cytomegalovirus (Significance of Cytomegalovirus gB Genotypes in Adult Patients Undergoing Hematopoietic Stem Cell Transplantation: Insights from a Single-Centre Investigation)
4. Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome. (Updated May 25, 2023)
5. Kinetic control in amyloid polymorphism: Different agitation and solution conditions promote distinct amyloid polymorphs of alpha-synuclein (Updated April 1, 2023)
6. Dominant nonsense mutations in efemp1 alter vertebral and craniofacial characteristics in adult zebrafish
7. Single-cell Glycogenomics Deciphers Links Between Altered Transcriptional Regulation and Aberrant Glycosylation in Alzheimer's Disease
8. APP gene copy number changes reflect exogenous contamination
9. Kinetic control in amyloid polymorphism: Different agitation and solution conditions promote distinct amyloid polymorphs of alpha-synuclein
10. FTD-tau S320F mutation stabilizes local structure and allosterically promotes amyloid motif-dependent aggregation
11. Amyloid b-peptide impacts on glucose regulation are dependent on apolipoprotein E genotype
12. University of Kansas Researcher Provides New Insights into Protein Precursors (Mutations in the Amyloid-b Protein Precursor Reduce Mitochondrial Function and Alter Gene Expression Independent of 42-Residue Amyloid-b Peptide)
13. Cryo-EM structure of amyloid fibril formed by a-synuclein familial A53E mutation
14. New Glomerulosclerosis Research Reported from Marques de Valdecilla University Hospital (High Rate of Mutations of Adhesion Molecules and Extracellular Matrix Glycoproteins in Patients with Adult-Onset Focal and Segmental Glomerulosclerosis)
15. On the pH-dependence of a-synuclein amyloid polymorphism and the role of secondary nucleation in seeding experiments
16. Microglia produce the amyloidogenic ABri peptide in familial British dementia
17. Data from Weill Cornell Medicine Provide New Insights into Cytomegalovirus (Common Polymorphisms in the Glycoproteins of Human Cytomegalovirus and Associated Strain-Specific Immunity)
18. Mutations in tau protein promote aggregation by favoring extended conformations
19. Pathogenic Mutations in the C2A Domain of Dysferlin form Amyloid that Activates the Inflammasome
20. The amyloid beta precursor protein is differentially expressed in lymph node metastasis in human breast cancer
21. Studies from Fondazione IRCCS Policlinico San Matteo Yield New Data on Cytomegalovirus (Detection of Genotype-Specific Antibody Responses to Glycoproteins B and H in Primary and Non-Primary Human Cytomegalovirus Infections by Peptide-Based ELISA)
22. Familial prion disease-related mutation E196K displays a novel amyloid fibril structure revealed by cryo-EM
23. Reports on Mucoproteins from Southern Medical University Provide New Insights (Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition)
24. Novel Mutations in Human Luteinizing Hormone Beta Subunit Related to Polycystic Ovary Syndrome among Sudanese Women (Updated November 17, 2020)
25. Study Results from Peking Union Medical College Update Understanding of Mucoproteins (Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene-a case report)
26. The revelation of Novel Mutations in Human Luteinizing Hormone Beta Subunit Related to Polycystic Ovary Syndrome among Sudanese Women
27. Epigenetic profiling of Italian patients identified methylation sites associated with hereditary Transthyretin amyloidosis (Updated July 22, 2020)
28. Genome-wide association, Mendelian Randomization and polygenic risk score studies converge on a role of beta-amyloid and APOE locus in Parkinson disease
29. Tau amyloidogenesis begins with a loss of its conformational polymorphism
30. Reports from Japanese Red Cross Shizuoka Hospital Add New Data to Findings in Transcription Factors (Liganded T3 receptor b2 inhibits the positive feedback autoregulation of the gene for GATA2, a transcription factor critical for thyrotropin ...)
31. Cryo-EM structures of amyloid-beta filaments with the Arctic mutation (E22G) from human and mouse brains
32. Research Findings from 'Iuliu Hatieganu' University of Medicine and Pharmacy Update Understanding of Hormones [Impact of Follicle Stimulating Hormone Receptor (FSHR) Polymorphism on the Efficiency of Co-Treatment with Growth Hormone in a Group
33. Structural polymorphism of amyloid fibrils in cardiac ATTR amyloidosis revealed by cryo-electron microscopy (Updated October 12, 2022)
34. Studies from Sapienza University of Rome Describe New Findings in Genetics (Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype)
35. Mutations in a set of ancient matrisomal glycoprotein genes across neoplasia predispose to disruption of morphogenetic transduction
36. Structural polymorphism of amyloid fibrils in cardiac ATTR amyloidosis revealed by cryo-electron microscopy
37. Investigators at Palladin Institute of Biochemistry Discuss Findings in Neuroglia (Single-walled carbon nanotubes affect the expression of genes associated with immune response in normal human astrocytes)
38. University of Swat Researchers Advance Knowledge in Membrane Glycoproteins (Cation/Proton Antiporter Genes in Tomato: Genomic Characterization, Expression Profiling, and Co-Localization with Salt Stress-Related QTLs)
39. Involvement of urinary proteins in the rat strain difference in sensitivity to ethylene glycol-induced renal toxicity
40. Progressive renal papillary calcification and ureteral stone formation in mice deficient for Tamm-Horsfall protein
41. Genomics reveal ancient forms of stanniocalcin in amphioxus and tunicate
42. Modification of the Campylobacter jejuni flagellin glycan by the product of the Cj1295 homopolymeric-tract-containing gene
43. Cytomegalovirus gN genotypes distribution among congenitally infected newborns and their relationship with symptoms and birth and sequelae
44. Identification of Sp1 and GC-boxes as transcriptional regulators of mouse Dag1 gene promoter
45. Pandemic influenza: the primary care challenge: as winter approaches, Robert Pratt outlines the essential role played by primary care practitioners in preventing the spread of pandemic influenza
46. Intracellular cleavage of osteopontin by caspase-8 modulates hypoxia/reoxygenation cell death through p53
47. Impaired transcription factor interplay in addition to advanced glycation end products suppress podocalyxin expression in high glucose-treated human podocytes
48. Functional analysis of human RhCG: comparison with E. coli ammonium transporter reveals similarities in the pore and differences in the vestibule
49. Cohesin regulates VSG monoallelic expression in trypanosomes
50. Secretion of amyloidogenic gelsolin progressively compromises protein homeostasis leading to the intracellular aggregation of proteins
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