ライフサイエンスコーパス: osteopetrosis

1 anion exchanger member 2 (Slc4a2) results in osteopetrosis.

2 LysMCre;Ptpn11(fl/fl) mice had mild osteopetrosis.

3 conditionally deleted in osteoclasts develop osteopetrosis.

4 ted by many CLCN7 mutations underlying human osteopetrosis.

5 iled to rescue osteoclastogenesis or reverse osteopetrosis.

6 nts osteoclast differentiation, both causing osteopetrosis.

7 f AdIFNalpha to (NZB x NZW)F(1) mice induced osteopetrosis.

8 artment, with loss of ClC-7 function causing osteopetrosis.

9 ch as osteoporosis, rheumatoid arthritis and osteopetrosis.

10 lic bone diseases including osteoporosis and osteopetrosis.

11 osteoclast bone resorbing activity, causing osteopetrosis.

12 itf(mi/mi) and Bcl2(-/-) mice exhibit severe osteopetrosis.

13 states such as osteoporosis, or more rarely, osteopetrosis.

14 isruption of Atp6i in mice results in severe osteopetrosis.

15 alleles (mi/mi and Mior/Mior) in mice cause osteopetrosis.

16 d has clinical implications for treatment of osteopetrosis.

17 l as neutrophilia disorders and the disease, osteopetrosis.

18 occur frequently in patients with malignant osteopetrosis.

19 ary defect in mice lacking the c-src gene is osteopetrosis, a deficiency in bone resorption by osteoc

20 Lack of mature osteoclasts caused severe osteopetrosis, a family of diseases characterized by imp

21 U.1-/- mice exhibit the classic hallmarks of osteopetrosis, a family of sclerotic bone diseases.

22 sponding deficiencies in pycnodysostosis and osteopetrosis and identifies likely regulators of cathep

23 icient (RGS10-/-) mice that exhibited severe osteopetrosis and impaired osteoclast differentiation.

24 Deletion of Nfatc1 in young mice resulted in osteopetrosis and inhibition of osteoclastogenesis in vi

25 ive mixed proximal-distal RTA accompanied by osteopetrosis and mental retardation is associated with

26 orms of subunit a lead to the human diseases osteopetrosis and renal tubular acidosis.

27 or the osteosclerosis (oc) mutation includes osteopetrosis, and a variety of studies demonstrate that

28 d with a syndrome of renal tubular acidosis, osteopetrosis, and cerebral calcification.

29 processes, including renal tubular acidosis, osteopetrosis, and tumor metastasis.

30 Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, charact

31 ith severe bleeding, frequent infections and osteopetrosis at an early age.

32 rising result was that the animals developed osteopetrosis because of a defect in osteoclast differen

33 a soluble RANK-Fc fusion protein have severe osteopetrosis because of a reduction in osteoclasts, sim

34 beta3-integrins in beta3KOM mice resulted in osteopetrosis but had no effect on hemostasis or mortali

35 n mice decreases bone resorption, leading to osteopetrosis, but also increases the bone formation rat

36 c, src-/- mice show only one major phenotype-osteopetrosis caused by an intrinsic defect in osteoclas

37 vivo, CD11b(+)-cre/Dicer-null mice had mild osteopetrosis caused by decreased osteoclast number and

38 , or stability, and that infantile malignant osteopetrosis caused by the R444L mutation in the human

39 These mice develop osteopetrosis characterized by increased bone mass, redu

40 nic mice results in a profound yet nonlethal osteopetrosis, coincident with a decrease in later stage

41 Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin find

42 Thus the findings reflect a mild osteopetrosis due to an intrinsic defect of osteoclastic

43 Deletion of Pyk2 in mice leads to mild osteopetrosis due to impairment in osteoclast function.

44 e NF-kappaB-inducing kinase (NIK), show mild osteopetrosis due to the inhibition of osteoclastogenesi

45 t mi allele and a PU.1 null allele developed osteopetrosis early in life which resolved with age.

46 In contrast, osteopetrosis has not been observed in a number of reces

47 terized by bleeding, frequent infections and osteopetrosis has now been attributed to mutations in th

48 hematopoietic transplantation for infantile osteopetrosis in 193 patients.

49 ss of Ostm1 leads to the most severe form of osteopetrosis in mice and humans.

50 hat ablation of Tak1 in myeloid cells causes osteopetrosis in mice as a result of defective osteoclas

51 emonstrate that myeloid NEMO deletion causes osteopetrosis in mice.

52 s in wild-type and src(+/-) mice and worsens osteopetrosis in src(-/-) mice by a novel mechanism, inc

53 nase-defective alleles of c-src also reduces osteopetrosis in src-/- animals and partially rescues a

54 dingly, deletion of Rbpj partially corrected osteopetrosis in Tak1-deficient mice.

55 bone homeostasis disorders of osteolysis and osteopetrosis in the same organism.

56 s in bone homeostasis, such as phenotypes of osteopetrosis in tibiae and osteolysis in calvariae as a

57 egion of 11q12-13 were found to be linked to osteopetrosis in two consanguineous Bedouin kindreds.

58 , Src251, lacking the kinase domain, induces osteopetrosis in wild-type and src(+/-) mice and worsens

59 n vivo and in cell culture, and induces mild osteopetrosis in young female PTPe KO mice.

60 Osteopetrosis is a genetic bone disease characterized by

61 Osteopetrosis is a heterogeneous group of bone disorders

62 Autosomal recessive osteopetrosis is a rare congenital disorder characterize

63 Recessive osteopetrosis is caused by deficient osteoclast acid sec

64 Their long bone osteopetrosis is largely reversed, and extensive medulla

65 d murine phenotypes, we tested whether human osteopetrosis maps to a region of conserved synteny.

66 t we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, a

67 The osteopetrosis observed in these mice can be reversed by

68 The fact that the osteopetrosis of CtsK-TLN1 and CtsK-Rap1 mice is substan

69 oduce dysfunctional osteoclasts resulting in osteopetrosis or osteosclerosis.

70 ne mass (osteoporosis), increased bone mass (osteopetrosis), or abnormalities in endochondral ossific

71 the absence of Roct expression results in an osteopetrosis phenotype in mice.

72 ted with the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis, and cerebral calc

73 Their dysfunction causes Dent's disease and osteopetrosis, respectively.

74 ear cells from three infantile patients with osteopetrosis resulted in no significant activation of m

75 ANK(-/-) mice were characterized by profound osteopetrosis resulting from an apparent block in osteoc

76 Mutant src(-/-) mice have osteopetrosis resulting from defective osteoclasts, the

77 ; surviving animals develop a severe form of osteopetrosis, resulting in extreme levels of splenic ex

78 Residual osteopetrosis, significantly delayed trabecular bone res

79 ut not recessive, mutations of mitf, produce osteopetrosis, suggesting a functional requirement for o

80 n a particularly malignant form of infantile osteopetrosis that is lethal in infancy, or early childh

81 defects are secondary because of the severe osteopetrosis--we generated B cell-specific RANK knockou

82 mptoms of bleeding, frequent infections, and osteopetrosis, which are consequences of an inability to

83 cells, exemplified by bone diseases such as osteopetrosis, which frequently results from defects in

84 t, resulting in impaired bone remodeling and osteopetrosis, while hck-/- or fgr-/- mice have few and

85 rotegerin (OPG) in OPG transgenic mice cause osteopetrosis with normal tooth eruption and bone elonga

86 er syndrome, autosomal recessive syndrome of osteopetrosis with renal tubular acidosis, and familial

87 al body weight, limb size and fertility, and osteopetrosis with severity similar to that of RANK or R

88 TRANCE-deficient mice showed severe osteopetrosis, with no osteoclasts, marrow spaces, or to