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44 results on '"Protein Isoforms/genetics"'

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1. Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome

2. nf-core/isoseq: Simple gene and isoform annotation with PacBio Iso-Seq long-read sequencing

3. Using machine learning to detect the differential usage of novel gene isoforms

4. Common genetic variation in KATNAL1 non-coding regions is involved in the susceptibility to severe phenotypes of male infertility

5. On the evolution of chaperones and cochaperones and the expansion of proteomes across the Tree of Life

6. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

7. Oncofoetal insulin receptor isoform A marks the tumour endothelium; an underestimated pathway during tumour angiogenesis and angiostatic treatment

8. APC2 controls dendrite development by promoting microtubule dynamics

9. Different tau species lead to heterogeneous tau pathology propagation and misfolding

10. The APOE ε4 allele is associated with a reduction in FEV1/FVC in women: A cross-sectional analysis of the Long Life Family Study

11. Characterization of coding/noncoding variants for SHROOM3 in patients with CKD

12. Aquaporins in the Eye

13. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

14. Soluble ectodomain CD163 and extracellular vesicle-associated CD163 are two differently regulated forms of 'soluble CD163' in plasma

15. The first minutes in the life of a peroxisomal matrix protein

16. Claudin-18 gene structure, regulation, and expression is evolutionary conserved in mammals

17. Short-lived AUF1 p42-binding mRNAs of RANKL and BCL6 have two distinct instability elements each

18. Posttranslational Modification of the NH2-terminal Region of CXCL5 by Proteases or Peptidylarginine Deiminases (PAD) Differently Affects Its Biological Activity

19. Serum Tenascin-X Strongly Binds to Vascular Endothelial Growth Factor

20. Structure and Characterization of AAT-1 Isoforms

21. Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

22. Functional characterization of vertebrate nonmuscle myosin IIB isoforms using Dictyostelium chimeric myosin II

23. Landscape of transcription in human cells

24. The α1-adrenergic receptors: diversity of signaling networks and regulation

25. Recognition versus adaptive up-regulation and degradation of CC chemokines by the chemokine decoy receptor D6 are determined by their N-terminal sequence

26. A comprehensive survey of the laminins and collagens type IV expressed in mouse Leydig cells and their regulation by LH/hCG

27. The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

28. Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice

29. Proliferating cell nuclear antigen is required for loading of the SMCX/KMD5C histone demethylase onto chromatin.

30. Serum tenascin-X strongly binds to vascular endothelial growth factor.

31. A unique T cell receptor discovered in marsupials

32. Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains

33. In vivo role of truncated trkb receptors during sensory ganglion neurogenesis

34. A critical role for Kalirin in NGF signaling through TrkA

35. Structure and characterization of AAT-1 isoforms.

36. The novel somatostatin analog SOM230 is a potent inhibitor of hormone release by growth hormone- and prolactin-secreting pituitary adenomas in vitro

38. Expression of alternatively spliced isoforms of human Sp7 in osteoblast-like cells.

39. Activation of peroxisome proliferator-activated receptors (PPARs) by their ligands and protein kinase A activators

40. Functional characterization of vertebrate nonmuscle myosin IIB isoforms using Dictyostelium chimeric myosin II.

41. Functional characterization of vertebrate nonmuscle myosin IIB isoforms using Dictyostelium chimeric myosin II.

42. Water maze learning and forebrain mRNA expression of the neural cell adhesion molecule L1

43. Chronic stress induces opposite changes in the mRNA expression of the cell adhesion molecules NCAM and L1

44. Efficient targeted transcript discovery via array-based normalization of RACE libraries

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