217 results on '"Duplomb, Laurence"'
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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. Des organoïdes cérébraux pour la compréhension et la thérapie des maladies génétiques rares avec troubles neurodéveloppementaux.
5. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
6. Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking
7. Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia
8. Hyperleptinemia Prevents Lipotoxic Cardiomyopathy in Acyl CoA Synthase Transgenic Mice
9. Hepatic Insig-1 or -2 Overexpression Reduces Lipogenesis in Obese Zucker Diabetic Fatty Rats and in Fasted/Refed Normal Rats
10. 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
11. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
12. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
13. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
14. Osteoprotegerin: Multiple partners for multiple functions
15. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huet anomaly
16. Differentiation of Osteoblasts from Mouse Embryonic Stem Cells without Generation of Embryoid Body
17. Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome
18. Long term oncostatin M treatment induces an osteocyte-like differentiation on osteosarcoma and calvaria cells
19. The dual role of IL-6-type cytokines on bone remodeling and bone tumors
20. Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures
21. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
22. Cohen syndrome is associated with major glycosylation defects
23. Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations
24. Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation
25. P02.10.C Cataract and retinal dystrophy inVps13b(Delta Ex3/Delta Ex3)mice
26. Proteoglycans: key partners in bone cell biology
27. A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation
28. FR901228, an inhibitor of histone deacetylases, increases the cellular responsiveness to IL-6 type cytokines by enhancing the expression of receptor proteins
29. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
30. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability
31. Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1
32. Periodontal disorders in a cohort of patients with Cohen syndrome
33. Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors
34. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
35. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
36. Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction
37. Interleukin-34 is expressed by giant cell tumours of bone and plays a key role in RANKL-induced osteoclastogenesis
38. Gallium modulates osteoclastic bone resorption in vitro without affecting osteoblasts
39. Conditioned media from mouse osteosarcoma cells promote MC3T3-E1 cell proliferation using JAKs and PI3-K/Akt signal crosstalk
40. 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
41. Soluble Mannose 6-Phosphate/Insulin-Like Growth Factor II (IGF-II) Receptor Inhibits Interleukin-6-Type Cytokine-Dependent Proliferation by Neutralization of IGF-II
42. Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking
43. Haploinsufficiency of ARFGEF1is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
44. Periodontal disorders in a cohort of patients with Cohen syndrome.
45. A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease
46. De novomutations in the X-linked TFE3gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features
47. Extracellular HSP110 skews macrophage polarization in colorectal cancer
48. Glycosaminoglycans inhibit the adherence and the spreading of osteoclasts and their precursors: role in osteoclastogenesis and bone resorption
49. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
50. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
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