156 results on '"Duplomb, Laurence"'
Search Results
2. Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected
3. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
4. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
5. Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking
6. Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
7. Hyperleptinemia Prevents Lipotoxic Cardiomyopathy in Acyl CoA Synthase Transgenic Mice
8. Hepatic Insig-1 or -2 Overexpression Reduces Lipogenesis in Obese Zucker Diabetic Fatty Rats and in Fasted/Refed Normal Rats
9. P1217: TARGETING HSP110 IN COMBINATION WITH SELINEXOR IN PRIMARY MEDIASTINAL B-CELL LYMPHOMA AND IN CLASSICAL HODGKIN LYMPHOMA INHIBITS STAT6 ACTIVATION AND IMPAIRS LYMPHOMA CELL GROWTH
10. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
11. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
12. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
13. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly
14. Differentiation of Osteoblasts from Mouse Embryonic Stem Cells without Generation of Embryoid Body
15. Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome
16. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
17. Cohen syndrome is associated with major glycosylation defects
18. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
19. FR901228, an inhibitor of histone deacetylases, increases the cellular responsiveness to IL-6 type cytokines by enhancing the expression of receptor proteins
20. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
21. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability
22. Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
23. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
24. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
25. Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
26. Gallium modulates osteoclastic bone resorption in vitro without affecting osteoblasts
27. Conditioned media from mouse osteosarcoma cells promote MC3T3-E1 cell proliferation using JAKs and PI3-K/Akt signal crosstalk
28. Interleukin-6 Inhibits Receptor Activator of Nuclear Factor κB Ligand-Induced Osteoclastogenesis by Diverting Cells into the Macrophage Lineage: Key Role of Serine727 Phosphorylation of Signal Transducer and Activator of Transcription 3
29. Soluble Mannose 6-Phosphate/Insulin-Like Growth Factor II (IGF-II) Receptor Inhibits Interleukin-6-Type Cytokine-Dependent Proliferation by Neutralization of IGF-II
30. Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking
31. Haploinsufficiency of ARFGEF1is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
32. A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease
33. De novomutations in the X-linked TFE3gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
34. Extracellular HSP110 skews macrophage polarization in colorectal cancer
35. Glycosaminoglycans inhibit the adherence and the spreading of osteoclasts and their precursors: role in osteoclastogenesis and bone resorption
36. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
37. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
38. Osteoclast, cell survival and FVIII/vWF complex
39. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
40. PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
41. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
42. In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
43. TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
44. IntragenicCAMTA1rearrangements cause non-progressive congenital ataxia with or without intellectual disability
45. Factor VIII-von Willebrand Factor Complex Inhibits Osteoclastogenesis and Controls Cell Survival
46. Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
47. Concise Review: Embryonic Stem Cells: A New Tool to Study Osteoblast and Osteoclast Differentiation
48. Demonstration of reverse fatty acid transport from rat cardiomyocytes
49. Mutations in the Immunoglobulin-like Domain of gp190, the Leukemia Inhibitory Factor (LIF) Receptor, Increase or Decrease Its Affinity for LIF
50. Oncostatin M Regulates the Synthesis and Turnover of gp130, Leukemia Inhibitory Factor Receptor α, and Oncostatin M Receptor β by Distinct Mechanisms
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.