ライフサイエンスコーパス: achondroplasia

1 asia suggest that activation of FGFR3 causes achondroplasia.

2 te these approaches in preclinical models of achondroplasia.

3 design of targeted molecular treatments for achondroplasia.

4 of disorders including Apert's syndrome and achondroplasia.

5 have yet to translate into the management of achondroplasia.

6 oric dysplasia as well as in mouse models of achondroplasia.

7 in fibroblasts of an individual affected by achondroplasia.

8 from 280 children (155 boys, 125 girls) with achondroplasia.

9 FR3 signaling in thanatophoric dysplasia and achondroplasia.

10 sights into the mechanism of pathogenesis in achondroplasia.

11 h factor receptor 3 (FGFR3) gene that causes achondroplasia.

12 ting mutations are the molecular etiology of achondroplasia.

13 including the most common form of dwarfism, achondroplasia.

14 auses dwarfism with features mimicking human achondroplasia.

15 actor receptor 3 (FGFR3) are responsible for achondroplasia (ACH) and related dwarfing conditions in

16 n skeletal diseases hypochondroplasia (HCH), achondroplasia (ACH) and thanatophoric dysplasia (TD).

17 pment, with specific FGFR3 mutations causing achondroplasia (Ach) and thanatophoric dysplasia (TD).

18 FGFR-3 has been shown to be responsible for achondroplasia (ACH) but it was not clear whether such m

19 Achondroplasia (ACH) is the most frequent form of dwarfi

20 Achondroplasia (ACH) is the prototype and most common of

21 ommon genetic form of short-limbed dwarfism, achondroplasia (ACH), as well as neonatal lethal forms,

22 Achondroplasia (ACH), the most common form of dwarfism,

23 Achondroplasia (ACH), the most common genetic dwarfism i

24 ng the most common genetic form of dwarfism, achondroplasia (ACH).

25 Although the primary features of achondroplasia affect the skeleton, a multidisciplinary

26 Establishing a diagnosis of achondroplasia allows families and clinicians to provide

27 nsible for the human developmental syndromes achondroplasia and acanthosis nigricans with Crouzon Syn

28 auses a number of genetic diseases including achondroplasia and cancer.

29 -for-age percentile curves for children with achondroplasia and explored the relation of BMI with its

30 rs of chondrocytic growth, as exemplified by achondroplasia and related chondrodysplasias, which are

31 Beare-Stevenson Syndrome, hypochondroplasia, achondroplasia and SADDAN syndrome.

32 anced paternal age resulting in new cases of achondroplasia and suggests that factors influencing DNA

33 nd cranial base in human cases of homozygous achondroplasia and thanatophoric dysplasia as well as in

34 Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most com

35 ible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes thanato

36 ible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes, Thanat

37 Apert syndrome (caused by FGFR2 mutations), achondroplasia, and thanatophoric dysplasia (FGFR3), and

38 People with achondroplasia are generally of normal intelligence.

39 change in height and weight in children with achondroplasia are unique in that there is no overlap in

40 sms responsible for the clinical findings of achondroplasia as well as to develop possible new therap

41 c BMI curves are available for children with achondroplasia (birth to 16 y of age) for health surveil

42 se results, certain human disorders, such as achondroplasia, can be interpreted as gain-of-function m

43 This result indicates that pathogenesis in achondroplasia cannot be explained simply by a higher di

44 More than 97% of achondroplasia cases are caused by one of two mutations

45 The achondroplasia class of chondrodysplasias comprises the

46 onsible for poor endochondral bone growth in achondroplasia disorders caused by mutations in FGFR3.

47 Achondroplasia disorders feature defects in chondrocyte

48 mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3).

49 of anthropometric measures of children with achondroplasia from birth through 16 y of age.

50 Although the genetic defect underlying achondroplasia has been known for over a decade, no effe

51 Current research into the pathogenesis of achondroplasia has expanded our understanding of the mec

52 Yet heterodimerization in achondroplasia has not been characterized thus far.

53 Achondroplasia has recently been shown to result from a

54 Sporadic cases of achondroplasia have been associated with advanced patern

55 Others, such as Morquio syndrome or achondroplasia, have hypermobility in a more limited dis

56 ciplinary approach to care for children with achondroplasia helps families and clinicians understand

57 tic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysp

58 -nine families, each with a sporadic case of achondroplasia in a child, were analyzed in this study.

59 ins the FGFR3 gene, which is responsible for achondroplasia in humans, but not in dogs.

60 clinical findings and the natural history of achondroplasia in order to improve the outcome for each

61 iated with either thanatophoric dysplasia or achondroplasia, in the TM domain of fibroblast growth fa

62 tain de novo human genetic conditions (e.g., achondroplasia) increase in incidence with the age of th

63 Achondroplasia is a heterozygous disorder, and thus the

64 of average stature, the BMI in children with achondroplasia is higher at birth, lacks a steep increas

65 Instead, FGFR3 activity in achondroplasia is increased due to increased probability

66 Achondroplasia is the most common form of short limb dwa

67 Achondroplasia is the most common short stature skeletal

68 results suggest that the molecular basis of achondroplasia is unregulated signal transduction throug

69 ted that both transgenes result in a similar achondroplasia-like dwarfism.

70 an activated FGFR1 signaling pathway with an achondroplasia-like mouse that expresses a similarly act

71 n of secondary ossification centers, and the achondroplasia-like phenotype.

72 Achondroplasia may be one of the number of cogenital dis

73 , is being defined more fully in adults with achondroplasia; most of the serious complications can be

74 omoting treatment for these complications of achondroplasia must precede the timing of the synchondro

75 ndrocyte proliferation in mice expressing an achondroplasia mutant of Fgfr3, it did not rescue the re

76 e molecular and cellular consequences of the achondroplasia mutation are being elucidated, providing

77 e have determined the parental origin of the achondroplasia mutation in 40 sporadic cases.

78 In this population, the achondroplasia mutation occurred on the paternal chromos

79 he FGFR3 gene, within close proximity to the achondroplasia mutation site.

80 As with humans carrying the achondroplasia mutation, the resulting transgenic mice a

81 increased risk for producing offspring with achondroplasia mutations, and risk of fathering offsprin

82 ummary of management and current research in achondroplasia (OMIM 100800).

83 tor 3 gene (FGFR3) mutations associated with achondroplasia (P < 0.01) with no evidence for age thres

84 and foramen magnum stenosis in heterozygous achondroplasia patients, therefore, may occur through pr

85 and skeletal alterations with phocomelic or achondroplasia phenotype.

86 oximal to the FGFR3 gene responsible for the achondroplasia phenotype.

87 he most common nonlethal skeletal dysplasia, achondroplasia presents a distinct clinical picture evid

88 Homozygous achondroplasia resembles the phenotype of TD.

89 s together with our earlier observation that achondroplasia results from constitutive activation of t

90 Contrasts between the skeletal phenotype and achondroplasia suggest that activation of FGFR3 causes a

91 Growth Factor Receptor 3 (FGFR3) that causes achondroplasia suggests that disease results from increa

92 or 3 (FGFR3) have been found in persons with achondroplasia, thanatophoric dysplasia, and hypochondro

93 Achondroplasia, the most common form of human dwarfism,

94 last growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism.

95 ane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism.

96 tor 3 (FGFR3) of the RTK family is linked to achondroplasia, the most common form of human dwarfism.

97 owth and activating mutations in Fgfr3 cause achondroplasia, the most common genetic form of dwarfism

98 Achondroplasia, the most common genetic form of dwarfism

99 Achondroplasia, the most common genetic form of dwarfism

100 r relevance with the recent observation that achondroplasia, the most common genetic form of human dw

101 ese mice showed a dwarf phenotype similar to achondroplasia, the most common human dwarfism, caused b

102 lated to paternal age (e.g., Apert syndrome, achondroplasia), this process is known as "selfish sperm

103 The genetic cause of achondroplasia was discovered in 1994.

104 weight management guidance for children with achondroplasia, whose body proportions are unlike those

105 tophoric dysplasia type II (TDII) and severe achondroplasia with developmental delay and acanthosis n

106 TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis n

107 caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis n