ライフサイエンスコーパス: hypomyelination

1 ibed in patients with central nervous system hypomyelination.

2 ier-onset presentation associated with brain hypomyelination.

3 of oligodendrocyte precursors (OPCs) and CNS hypomyelination.

4 ays of genes already associated with central hypomyelination.

5 tion 5' to the qkI gene, resulting in severe hypomyelination.

6 ed with a number of neural defects including hypomyelination.

7 sis in Lgi4-deficient mice due to peripheral hypomyelination.

8 ibited neuroimaging that was consistent with hypomyelination.

9 differential diagnosis of spastic ataxia and hypomyelination.

10 tion of oligodendrocyte precursor cells, and hypomyelination.

11 of myelinating Schwann cells and severe PNS hypomyelination.

12 critical proteins for myelin development and hypomyelination.

13 ozygous mutations in RARS in 4 patients with hypomyelination.

14 timation was corroborated in mouse models of hypomyelination.

15 , autoimmunity, intellectual disability, and hypomyelination.

16 on oligodendrocyte development, resulting in hypomyelination.

17 neurological phenotype resembling congenital hypomyelination.

18 ard wrapping during myelin formation causing hypomyelination.

19 odevelopmental defects, including severe CNS hypomyelination.

20 c myelination in the disorders of congenital hypomyelination.

21 well as diminished oligodendrocyte loss and hypomyelination.

22 cating that genetic deletion of Bace1 causes hypomyelination.

23 childhood ataxia with central nervous system hypomyelination, a relatively common leukodystrophy synd

24 Olig1-null neonatal mice showed significant hypomyelination after moderate neonatal stroke.

25 dentified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mu

26 avioral deficits were associated with marked hypomyelination and a reduction of oligodendrocytes in s

27 By P14, IBA injection at P5 caused localised hypomyelination and cyst formation in this region, altho

28 demonstrate that neonatal hypoxia results in hypomyelination and delayed axonal sorting in mice leadi

29 h lead to impaired OL maturation, severe CNS hypomyelination and delayed propagation of compound acti

30 p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as wel

31 condPou3f1:MPZ(Cre) mice revealed persistent hypomyelination and eventual axonal loss but no evidence

32 to induce IVH; and the pups with IVH exhibit hypomyelination and gliosis at 2 weeks of postnatal age.

33 ce phenocopy CHN, as evidenced by the severe hypomyelination and increased numbers of proliferating S

34 pathogenesis of peripheral neuropathies with hypomyelination and neuropathic pain.

35 ed the levels of p-eIF2alpha and ameliorated hypomyelination and oligodendrocyte loss in cultured hip

36 At 30 days, severe hypomyelination and periodic acid-Schiff-positive materi

37 nts resulted in loss of oligodendrocytes and hypomyelination and periventricular cysts.

38 en associated with severe West syndrome with hypomyelination and pontocerebellar atrophy.

39 the survival of O4 positive OLs, attenuated hypomyelination and reduced axonal damage.

40 ysis of the KOs confirmed both the delay and hypomyelination and revealed abnormalities in myelin str

41 tic infection, this protein can induce brain hypomyelination and suppression of myelin gene expressio

42 Hypomyelination and the absence of lax, wrinkly skin dis

43 wide range of disorders to which congenital hypomyelination and/or postnatal demyelination may contr

44 ically reduced animal survival, promoted CNS hypomyelination, and enhanced oligodendrocyte loss.

45 wed streak ovaries in 1 patient and signs of hypomyelination, and gliosis on brain biopsy in another

46 f mice during development results in tremor, hypomyelination, and oligodendrocyte cell loss, and IFN-

47 ome characterized by postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volum

48 delayed myelination, radial sorting defects, hypomyelination, and the persistence of promyelinating S

49 brain myelin, but the cellular mechanisms of hypomyelination are often poorly understood.

50 es and oligodendrocytes, caused a persistent hypomyelination, as did deletion from astrocytes during

51 ed in injuries to oligodendrocytes (OLs) and hypomyelination, as indicated by reduced immunostaining

52 We report a case of congenital hypomyelination associated with cranial nerve dysfunctio

53 A similar hypomyelination associated with increased oligodendrocyt

54 Treatment at P7 produced less hypomyelination, but more widespread loss of neurofilame

55 a model for a dual effect of JCV on inducing hypomyelination by (i) affecting myelin gene expression

56 europathology characterized by microcephaly, hypomyelination, calcification and neuronal loss.

57 jerine-Sottas syndrome (DSS), and congenital hypomyelination (CH).

58 tuberous sclerosis complex 1 (TSC1), causes hypomyelination characterized by downregulation of Akt s

59 nhibitor of mTOR, surprisingly also leads to hypomyelination during CNS development.

60 BACE1 deficiency in mice causes hypomyelination during development and impairs remyelina

61 s characterized by developmentally dependent hypomyelination, first evident at postnatal day (P) 10,

62 in two animal models of hypermyelination and hypomyelination followed by longitudinal studies in the

63 e lineage and that BMP inhibition alleviates hypomyelination, gliosis, and motor impairment in the su

64 A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogon

65 luble EGF-like domain is capable of rescuing hypomyelination in a zebrafish mutant lacking BACE1.

66 godendrocyte precursor cell (OPC) damage and hypomyelination in both neonatal and adult models of bra

67 odendrocyte survival in culture and prevents hypomyelination in cerebellar explants in the presence o

68 d biochemical analyses uncovered significant hypomyelination in Contactin-1-deficient central nerves,

69 mechanism to explain similar region-specific hypomyelination in laminin- and Fyn-deficient mice.

70 into mature myelinating OLs, leading to SCWM hypomyelination in mice.

71 rain, brainstem and cerebellar atrophy, with hypomyelination in most.

72 g phenotype, they did exhibit delayed and/or hypomyelination in selected areas of the brain, such as

73 Hypomyelination in some areas, such as the visual cortex

74 of its mouse ortholog results in widespread hypomyelination in the brain and optic nerve, as well as

75 of gamma-secretase in oligodendrocytes have hypomyelination in the central nervous system.

76 , designated furue, which causes tremors and hypomyelination in the CNS, particularly in the spinal c

77 d exploratory behavior, signs of anxiety and hypomyelination in the corpus callosum and optic nerve,

78 e matter of WAVE1-/- mice, we found regional hypomyelination in the corpus callosum and to a lesser e

79 Hypomyelination in the Lkb1-mutant nerves and muscle atr

80 ment of the abcd1 mutants is disrupted, with hypomyelination in the spinal cord, abnormal patterning

81 motor impairment, and the cellular basis is hypomyelination in the spinal cord, accompanied by sever

82 to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its

83 visual-evoked potentials indicated that the hypomyelination in the visual cortex had functional cons

84 lipid-enriched diet was sufficient to rescue hypomyelination in these conditional mouse mutants.

85 so accompanied oligodendrocyte apoptosis and hypomyelination in transgenic mice that inappropriately

86 ized ER stress mechanism that contributes to hypomyelination in tuberous sclerosis.

87 anical and thermal lesions in the forebrain, hypomyelination in white matter, and ischemia.

88 ted in exacerbated oligodendrocyte death and hypomyelination in young, developing mice that express I

89 condPou3f1:MPZ(Cre) mice exhibit persistent hypomyelination, indicating that strict control of Pou3f

90 able (qkV/qkV) mutant mice results in severe hypomyelination, indicating the essential function of QK

91 Hypomyelination is associated with a decreased number of

92 It has been hypothesized by others that this hypomyelination is due to a failure in myelin production

93 somal recessive and sporadic cases; and (ii) hypomyelination is frequently absent in POLR3A-related s

94 Instead of the typical hypomyelination magnetic resonance imaging pattern assoc

95 d by early-onset cortical atrophy, secondary hypomyelination, microcephaly, thin corpus callosum, dev

96 nance imaging (MRI) to establish and monitor hypomyelination, molecular diagnostics to determine a sp

97 In the quakingviable (qk(v)) hypomyelination mutant mouse, diminished expression of i

98 e of the qk(v) lesion, not observed in other hypomyelination mutants.

99 Apart from hypomyelination, myelin loss was evident in several case

100 ), autism spectrum disorder (n = 5), delayed/hypomyelination (n = 7), and cerebellar abnormalities (n

101 caused disrupted differentiation and marked hypomyelination of axons.

102 ties, which are rarely seen in patients with hypomyelination of different origin.

103 ng both Nab1 and Nab2 show severe congenital hypomyelination of peripheral nerves, with Schwann cell

104 rvous system gray matter and vacuolation and hypomyelination of some white matter tracts.

105 athological examination indicated no sign of hypomyelination of the brain, but surprisingly, revealed

106 , we demonstrate that loss of Gpr56 leads to hypomyelination of the central nervous system in mice.

107 Krox20 ( Egr2 ) knockout mice, which display hypomyelination of the PNS and a block of Schwann cells

108 Hypomyelination of the spinal cord persisted into adulth

109 nversely, mutations associated with isolated hypomyelination (p.Val255Ile and p.Arg282Pro) and the se

110 s well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro).

111 s, however, sufficient to induce significant hypomyelination pathology, implicating c-Jun as a potent

112 ndrocytes would be sufficient to reverse the hypomyelination phenotype in BACE1-null mice.

113 KI-6 transgene rescues the severe tremor and hypomyelination phenotype.

114 on of miR-338 exacerbates the miR-219 mutant hypomyelination phenotype.

115 Similarly, mice lacking neuronal Tsc1 have a hypomyelination phenotype.

116 eurons, in turn, mitigates the TSC-dependent hypomyelination phenotype.

117 Only mutations causing hypomyelination phenotypes showed altered microtubule dy

118 Furthermore, we show that hypomyelination present in Ts65Dn mice is in part due to

119 eading to reduced white matter expansion and hypomyelination relative to controls.

120 Apparent brain hypomyelination resulted in markedly delayed evoked pote

121 The transgenic mice exhibited widespread hypomyelination, resulting from a reduction in oligodend

122 ntrasts with the loss of oligodendroglia and hypomyelination seen with Tsc1 or Tsc2 deletion in the o

123 t mice occur in the absence of inflammation, hypomyelination, significant demyelination-remyelination

124 Additional findings included hypomyelination, spongiform myelinopathy with evidence o

125 matter disease/childhood ataxia with central hypomyelination syndrome.

126 r axon size, indicating remyelination and/or hypomyelination; there was also regression of the onion

127 us callosum of Olig1-null mice, resulting in hypomyelination throughout adulthood in the brain.

128 The delayed axonal sorting and hypomyelination throughout the peripheral nervous system

129 A significant hypomyelination was found in the brains of the Cav1.2 co

130 Extensive CNS hypomyelination was observed as a result of OL different

131 Hypomyelination was related to abnormal OL lineage progr

132 estigate potential mechanisms underlying CNS hypomyelination, we studied myelination and oligodendroc

133 Major contributing factors to hypomyelination were defects in the generation and organ

134 thologically, severe axonal degeneration and hypomyelination were observed in sections of dorsal root

135 agnetic resonance imaging evidence of severe hypomyelination were studied similarly.

136 the Schwann cell lineage resulted in severe hypomyelination, which occurred independently of altered

137 A (Tubb4a), result in the symptom complex of hypomyelination with atrophy of basal ganglia and cerebe

138 New clinico-imaging syndromes such as hypomyelination with atrophy of the basal ganglia and ce

139 ized leukodystrophy syndromes are described: hypomyelination with atrophy of the basal ganglia and ce

140 m associated with TUBB4A mutations, of which hypomyelination with atrophy of the basal ganglia and ce

141 imaging abnormalities that are indicative of hypomyelination with atrophy of the basal ganglia and ce

142 Hypomyelination with atrophy of the basal ganglia and ce

143 ctive magnetic resonance imaging pattern for hypomyelination with atrophy of the basal ganglia and ce

144 eacetylase activity, resulted in significant hypomyelination with delayed expression of late differen

145 yria and polymicrogyria, diffuse hemispheric hypomyelination with heterotopic neurons, Purkinje cell

146 nging from primary dystonia (DYT4), isolated hypomyelination with spastic quadriplegia, and an infant