Human genetic disorders and knockout mice deficient in glycosaminoglycan

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25. NDST1-dependent heparan sulfate regulates BMP signaling and internalization in lung development
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34. Loss of the Heparan Sulfate Sulfotransferase, Ndst1, in Mammary Epithelial Cells Selectively Blocks Lobuloalveolar Development in Mice
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35. Mouse development is not obviously affected by the absence of dermatan sulfate epimerase 2 in spite of a modified brain dermatan sulfate composition
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36. Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous <i>CHST14</i> mutation
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37. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families
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38. Chondroitin 4-O-sulfotransferase-2 regulates the number of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1
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40. Roles of EXTL2, a member of the EXT family of tumour suppressors, in liver injury and regeneration processes
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42. Role of High Endothelial Venule–Expressed Heparan Sulfate in Chemokine Presentation and Lymphocyte Homing
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44. Hs2st mediated kidney mesenchyme induction regulates early ureteric bud branching
    Mita M. Shah, Hiroyuki Sakurai, Derina E. Sweeney, Thomas F. Gallegos, Kevin T. Bush, Jeffrey D. Esko, Sanjay K. Nigám · 2010 · Developmental Biology
45. Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies
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46. Heparan sulfate Ndst1 regulates vascular smooth muscle cell proliferation, vessel size and vascular remodeling
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48. Impaired Lymphoid Organ Development in Mice Lacking the Heparan Sulfate Modifying Enzyme Glucuronyl C5-Epimerase
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49. Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome
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51. Podocyte-specific deletion of NDST1, a key enzyme in the sulfation of heparan sulfate glycosaminoglycans, leads to abnormalities in podocyte organization in vivo
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52. Involvement of heparan sulfate 6-O-sulfation in the regulation of energy metabolism and the alteration of thyroid hormone levels in male mice
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53. Analysis of axon guidance defects at the optic chiasm in heparan sulphate sulphotransferase compound mutant mice
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54. Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers–Danlos syndrome
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55. A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family
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56. N-Sulfation of Heparan Sulfate Regulates Early Branching Events in the Developing Mammary Gland
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57. A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1
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60. Neurogenic inflammation in mice deficient in heparin-synthesizing enzyme
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61. Smooth Muscle Specific Deletion of Ndst1 Leads to Decreased Vessel Luminal Area and No Change in Blood Pressure in Conscious Mice
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62. Dinucleotide repeat polymorphism in interferon‐γ gene is not associated with sporadic Alzheimer's disease
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63. Untitled work
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