ライフサイエンスコーパス: chondrodysplasia

1 abnormalities in endochondral ossification (chondrodysplasias).

2 Postnatal ablation of S1P results in chondrodysplasia.

3 estigate the mechanisms responsible for this chondrodysplasia.

4 eoclast populations, they do not improve the chondrodysplasia.

5 Smads 1, 5 and 8, however, results in severe chondrodysplasia.

6 lts in normally patterned limbs that display chondrodysplasia.

7 e hematopoietic dysfunction, and metaphyseal chondrodysplasia.

8 nd future treatment of combined dwarfism and chondrodysplasia.

9 double mutants develop a severe generalized chondrodysplasia.

10 also produces a similar phenotype of severe chondrodysplasia.

11 reating a phenotype resembling dwarfism with chondrodysplasia.

12 cy, bone marrow dysfunction, and metaphyseal chondrodysplasia.

13 seal dysplasia tarda (SEDT), a rare X-linked chondrodysplasia.

14 receptors described in Jansen's metaphyseal chondrodysplasia.

15 null fetuses die with a severe, generalized chondrodysplasia.

16 Hspg2-/- mice developed both exencephaly and chondrodysplasia.

17 ecific collagens are responsible for several chondrodysplasias.

18 ate, since mutations in both molecules cause chondrodysplasias.

19 s the prototype and most common of the human chondrodysplasias.

20 whose function is impaired in several human chondrodysplasias.

21 eous group of genetic disorders known as the chondrodysplasias.

22 responsible for a collection of short-limbed chondrodysplasias.

23 ility that FN assembly defects contribute to chondrodysplasias.

24 ocopied defects observed in human hereditary chondrodysplasias.

25 been found in Jansen-type human metaphyseal chondrodysplasia, a disease characterized by delayed ske

26 ound in a patient with Jansens's metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism a

27 ate, and in patients with Jansen metaphyseal chondrodysplasia, a rare genetic disorder caused by cons

28 factor 4 (fgf4) is strongly associated with chondrodysplasia, a short-legged phenotype that defines

29 nt observation that a third even more severe chondrodysplasia, achondrogenesis type IB, is also cause

30 hCDMP-1 is associated with a recessive human chondrodysplasia (acromesomelic chondrodysplasia, Hunter

31 ion, previously associated with appendicular chondrodysplasia, also reduces neurocranium size.

32 S1P(cko) mice exhibit chondrodysplasia and a complete lack of endochondral oss

33 last growth factor (FGF) receptors result in chondrodysplasia and craniosynostosis syndromes, highlig

34 broblast growth factor (FGF) receptors cause chondrodysplasia and craniosynostosis syndromes.

35 t mice lacking Chsy1, though viable, display chondrodysplasia and decreased bone density.

36 in the same cell population caused dwarfism, chondrodysplasia and exostoses.

37 ogenitors in mice causes neonatal lethality, chondrodysplasia and loss of the skull vault.

38 FGF mice exhibit phenotypes characterized by chondrodysplasia and macrocephaly, which affect endochon

39 tl1) in homozygous mice resulted in a severe chondrodysplasia and perinatal lethality.

40 th plate chondrocytes, eventually leading to chondrodysplasia and reduced long bone growth.

41 s of retinal degeneration, kidney cysts, and chondrodysplasia and results from mutations in the ift80

42 rogeneous cartilage disorders including some chondrodysplasias and certain forms of heritable osteoar

43 Both diseases are autosomal recessive chondrodysplasias and share clinical and radiological si

44 ulfation, provide a unique genetic basis for chondrodysplasia, and define a function for gPAPP in the

45 smaller than their littermates, had moderate chondrodysplasia, and developed kyphosis.

46 elta/Delta) mice had craniofacial dysplasia, chondrodysplasia, and kyphosis, with most mice dying by

47 ally impaired extracellular matrix, moderate chondrodysplasia, and kyphosis.

48 acterized by varying degrees of myotonia and chondrodysplasia, and patients with SJS survive.

49 radiologic evidence of Jansen's metaphyseal chondrodysplasia but less severe hypercalcemia, no recep

50 he activation of sulfatases, causes a severe chondrodysplasia by augmenting fibroblast growth factor

51 The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms

52 dwarfism, is an inherited autosomal-dominant chondrodysplasia caused by a gain-of-function mutation i

53 The bm mouse exhibits a postnatal chondrodysplasia caused by a mutation in the phosphoaden

54 ic dysplasia (DTD) is an incurable recessive chondrodysplasia caused by mutations in the SLC26A2 tran

55 genes in the pathogenesis of specific human chondrodysplasias caused by activating mutations in Fgfr

56 Jaws mutant mice also exhibit severe chondrodysplasia characterized by delayed and disorganiz

57 II collagen promoter induces a novel form of chondrodysplasia characterized by short-limbed dwarfism

58 1A2 encoding the chains of Type I collagen), chondrodysplasias (COL2A1 encoding the chains of Type II

59 The achondroplasia class of chondrodysplasias comprises the most common genetic form

60 ST mutations found in individuals with these chondrodysplasias differ functionally from each other, w

61 Chondrodysplasia Grebe type (CGT) is an autosomal recess

62 essive human chondrodysplasia (acromesomelic chondrodysplasia, Hunter-Thompson type (4,5)).

63 traffic and clarify the molecular basis for chondrodysplasia in mice and men.

64 eration, and blockage of differentiation and chondrodysplasia in mice.

65 The chondrodysplasia in Smad1/5(CKO) mice is accompanied by

66 ort capacity of each DTDST mutation with the chondrodysplasia in which it has been identified, we fin

67 ) in mice and Hunter-Thompson and Grebe-type chondrodysplasias in humans.

68 Jansen metaphyseal chondrodysplasia (JMC) is caused by a constitutively act

69 hypoplasia (CHH), also known as metaphyseal chondrodysplasia McKusick type (OMIM no. 250250), is an

70 lts demonstrate a phenotypic series of three chondrodysplasias of increasing severity caused by lesio

71 porter (DTDST) gene have been linked to four chondrodysplasias of varying severity.

72 g thoracic dystrophy, an autosomal recessive chondrodysplasia, often leads to death in infancy becaus

73 te size and architecture, leading to various chondrodysplasias or bone overgrowth.

74 at Hox genes could also be involved in human chondrodysplasias or other cartilage disorders.

75 The smpd3(-/-) mouse shares its dwarf and chondrodysplasia phenotype with the most common form of

76 n chondrocytes could sufficiently rescue the chondrodysplasia phenotype.

77 ia (CHH), an autosomal recessive metaphyseal chondrodysplasia, previously mapped to 9p13.

78 eoarthritis together with features of a mild chondrodysplasia probably best classified as spondyloepi

79 etic mechanism behind two clinically related chondrodysplasias, PSACH and multiple epiphyseal dysplas

80 Chondrodysplasia punctata (CDP) is a rare, heterogeneous

81 rant punctate calcification in cartilage, or chondrodysplasia punctata (CDP).

82 may be homologous to human X-linked dominant chondrodysplasia punctata (CDPX2) and incontinentia pigm

83 ozygous females with human X-linked dominant chondrodysplasia punctata (CDPX2, alternatively known as

84 Rhizomelic chondrodysplasia punctata (RCDP) is a developmental diso

85 Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders

86 Rhizomelic chondrodysplasia punctata (RCDP) is a rare autosomal rec

87 The rhizomelic form of chondrodysplasia punctata (RCDP) is an autosomal recessi

88 ects in the human protein causing rhizomelic chondrodysplasia punctata (RCDP), a severe, lethal perox

89 oxisome biogenesis disorder (PBD) rhizomelic chondrodysplasia punctata (RCDP).

90 including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects

91 phy, infantile Refsum disease and rhizomelic chondrodysplasia punctata are progressive disorders char

92 Determining the etiology of chondrodysplasia punctata requires performing various ba

93 , whereas mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (RCDP1).

94 erolosis, lathosterolosis, X-linked dominant chondrodysplasia punctata type 2 (CDPX2), congenital hem

95 erolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata type 2, and congenital hemidys

96 mith-Lemli-Opitz syndrome, X-linked dominant chondrodysplasia punctata, and cerebrotendinous xanthoma

97 dentified-desmosterolosis, X-linked dominant chondrodysplasia punctata, CHILD syndrome, lathosterolos

98 ping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysp

99 erved in cells from patients with rhizomelic chondrodysplasia punctata, Refsum disease, X-linked adre

100 imaging findings of two newborn babies with chondrodysplasia punctata.

101 ions found in human patients with rhizomelic chondrodysplasia punctata.

102 peroxisome biogenesis, including rhizomelic chondrodysplasia punctata.

103 ic differentiation of chondrocytes and cause chondrodysplasias similar to those caused by mutations i

104 ondensations, exhibited a severe generalized chondrodysplasia, similar to that in Sox5; Sox6 double-n

105 indings shed light on the cellular basis for chondrodysplasia syndromes and formation of the vertebra

106 egulators of chondrogenesis found mutated in chondrodysplasia syndromes.

107 inent feature of patients with FGFR3-induced chondrodysplasia syndromes.

108 e responsible for four recessively inherited chondrodysplasias that include diastrophic dysplasia, mu

109 been identified in a phenotypic continuum of chondrodysplasias that range widely in clinical severity

110 al characteristics resemble those of another chondrodysplasia, the much less severe diastrophic dyspl

111 The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS) is linked to mutatio

112 as exemplified by achondroplasia and related chondrodysplasias, which are caused by constitutively ac

113 nesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological charact

114 king the perlecan gene (Hspg2) have a severe chondrodysplasia with dyssegmental ossification of the s

115 The mice exhibited chondrodysplasia with expanded cartilage, which consists

116 er and Samoyed provide two animal models for chondrodysplasia with genetic heterogeneity.

117 e II collagen protein (Col II) and displayed chondrodysplasia with no endochondral bone formation eve

118 Tak1(col2) mice displayed severe chondrodysplasia with runting, impaired formation of sec

119 These mice had marked chondrodysplasia, with thick, irregular growth plates an