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384 results on '"Hoeijmakers JH"'

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1. Mechanisms of Cancer-related Cardiomyopathy67Protection against chemotherapy cardiotoxicity by the human amniotic fluid stem cell secretome: a new tool for future paracrine therapy68Hyperlipidaemia reduces mortality in breast, prostate, lung and bowel cancer69DNA-repair in cardiomyocytes is critical for maintaining cardiac function

4. Refining analyses of copy number variation identifies specific genes associated with developmental delay

6. Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

7. Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.

8. Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome.

9. Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing.

10. DNA damage-induced replication stress results in PA200-proteasome-mediated degradation of acetylated histones.

11. Activation of the DNA damage response in vivo in synucleinopathy models of Parkinson's disease.

12. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.

13. DNA damage-induced histone H1 ubiquitylation is mediated by HUWE1 and stimulates the RNF8-RNF168 pathway.

14. Frontline Science: Tryptophan restriction arrests B cell development and enhances microbial diversity in WT and prematurely aging Ercc1 -/Δ7 mice.

15. A signature of renal stress resistance induced by short-term dietary restriction, fasting, and protein restriction.

17. Supplementation with Lactobacillus plantarum WCFS1 Prevents Decline of Mucus Barrier in Colon of Accelerated Aging Ercc1 -/Δ7 Mice.

18. Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice.

19. Duplications of SLC1A3: Associated with ADHD and autism.

20. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

21. Inefficient DNA Repair Is an Aging-Related Modifier of Parkinson's Disease.

22. Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

23. Targeted inhibition of metastatic melanoma through interference with Pin1-FOXM1 signaling.

24. Tissue-Specific Suppression of Thyroid Hormone Signaling in Various Mouse Models of Aging.

25. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

26. TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

27. Altered lipid metabolism in the aging kidney identified by three layered omic analysis.

28. Clinical delineation of the PACS1-related syndrome--Report on 19 patients.

29. Tumor slice culture system to assess drug response of primary breast cancer.

30. Genome Integrity in Aging: Human Syndromes, Mouse Models, and Therapeutic Options.

31. Phosphodiesterase 1 regulation is a key mechanism in vascular aging.

32. MARK-AGE biomarkers of ageing.

33. Check, Check …Triple Check: Multi-Step DNA Lesion Identification by Nucleotide Excision Repair.

34. The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex.

35. The core spliceosome as target and effector of non-canonical ATM signalling.

36. Attenuated XPC expression is not associated with impaired DNA repair in bladder cancer.

37. Deciphering the RNA landscape by RNAome sequencing.

38. A mRad51-GFP antimorphic allele affects homologous recombination and DNA damage sensitivity.

39. An essential role for senescent cells in optimal wound healing through secretion of PDGF-AA.

40. TTDA: big impact of a small protein.

41. Cell-autonomous progeroid changes in conditional mouse models for repair endonuclease XPG deficiency.

42. Refining analyses of copy number variation identifies specific genes associated with developmental delay.

43. Functional ex vivo assay to select homologous recombination-deficient breast tumors for PARP inhibitor treatment.

44. Priming of microglia in a DNA-repair deficient model of accelerated aging.

45. Pollitt syndrome patients carry mutation in TTDN1.

46. Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.

47. Disruptive CHD8 mutations define a subtype of autism early in development.

48. The DNA damage response: the omics era and its impact.

49. Understanding nucleotide excision repair and its roles in cancer and ageing.

50. Preoperative fasting protects against renal ischemia-reperfusion injury in aged and overweight mice.

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