ライフサイエンスコーパス: chondrodysplasia

1 abnormalities in endochondral ossification (chondrodysplasias).

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

3 Postnatal ablation of S1P results in chondrodysplasia.

4 estigate the mechanisms responsible for this chondrodysplasia.

5 eoclast populations, they do not improve the chondrodysplasia.

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

7 lts in normally patterned limbs that display chondrodysplasia.

8 ening, epiphyseal distortion, and widespread chondrodysplasia.

9 e hematopoietic dysfunction, and metaphyseal chondrodysplasia.

10 nd future treatment of combined dwarfism and chondrodysplasia.

11 double mutants develop a severe generalized chondrodysplasia.

12 esulting Tgfbr1 (Col2) mice exhibited lethal chondrodysplasia.

13 also produces a similar phenotype of severe chondrodysplasia.

14 reating a phenotype resembling dwarfism with chondrodysplasia.

15 cy, bone marrow dysfunction, and metaphyseal chondrodysplasia.

16 as the pathogenetic basis of a novel form of chondrodysplasia.

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

18 receptors described in Jansen's metaphyseal chondrodysplasia.

19 null fetuses die with a severe, generalized chondrodysplasia.

20 ecific collagens are responsible for several chondrodysplasias.

21 ate, since mutations in both molecules cause chondrodysplasias.

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

23 responsible for a collection of short-limbed chondrodysplasias.

24 whose function is impaired in several human chondrodysplasias.

25 eous group of genetic disorders known as the chondrodysplasias.

26 ility that FN assembly defects contribute to chondrodysplasias.

27 ocopied defects observed in human hereditary chondrodysplasias.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

42 an essential node in the network of ciliary chondrodysplasia and nephronophthisis-like disease prote

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

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

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

46 ental condition characterized by metaphyseal chondrodysplasia and severe dwarfism.

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

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

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

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

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

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

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

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

55 keletal growth inhibition, malformation, and chondrodysplasia, but showed unimpaired mineralization i

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

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

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

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

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

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

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

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

64 erences, both male and female four-month-old chondrodysplasia (Cho/+) mice, which develop progressive

65 1A2 encoding the chains of Type I collagen), chondrodysplasias (COL2A1 encoding the chains of Type II

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

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

68 Chondrodysplasia Grebe type (CGT) is an autosomal recess

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

70 the catalytic site, which are known to cause chondrodysplasia in humans, recapitulate defects in over

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

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

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

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

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

76 gene, encoding procollagen-II, cause various chondrodysplasias, including precocious osteoarthritis w

77 Jansen's metaphyseal chondrodysplasia (JMC) is a rare disorder caused by acti

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

79 th at the cartilage-bone junction to cause a chondrodysplasia-like phenotype.

80 Targeting two ciliary chondrodysplasia loci (ift80 and ift172) by CRISPR/Cas9

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

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

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

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

85 ead to catastrophic malformations resembling chondrodysplasia or achondrogenesis.

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

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

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

89 n chondrocytes could sufficiently rescue the chondrodysplasia phenotype.

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

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

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

93 Chondrodysplasia punctata (CDP) is a rare, heterogeneous

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

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

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

97 Rhizomelic chondrodysplasia punctata (RCDP) is a developmental diso

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

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

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

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

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

103 cient ether lipid biosynthesis in rhizomelic chondrodysplasia punctata and other disorders is associa

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

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

106 Determining the etiology of chondrodysplasia punctata requires performing various ba

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

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

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

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

111 nylketonuria, propionic acidemia, rhizomelic chondrodysplasia punctata, and the Zellweger spectrum di

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

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

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

115 ions found in human patients with rhizomelic chondrodysplasia punctata.

116 peroxisome biogenesis, including rhizomelic chondrodysplasia punctata.

117 imaging findings of two newborn babies with chondrodysplasia punctata.

118 2) mice exhibited a striking reversal of the chondrodysplasia seen in Tgfbr1 (Col2) mice.

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

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

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

122 egulators of chondrogenesis found mutated in chondrodysplasia syndromes.

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

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

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

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

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

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

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

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

131 The mice exhibited chondrodysplasia with expanded cartilage, which consists

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

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

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

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