ライフサイエンスコーパス: dwarfism

1 chondroplasia, the most common form of human dwarfism.

2 the size of vegetative organs, resulting in dwarfism.

3 chondroplasia, the most common form of human dwarfism.

4 at mutations that inhibit this process cause dwarfism.

5 by 9 weeks of age they have mild short-limb dwarfism.

6 ertrophy, ossification of growth plates, and dwarfism.

7 PV/+) mice display the striking phenotype of dwarfism.

8 r identifying the defects that contribute to dwarfism.

9 e, in patients with microcephalic primordial dwarfism.

10 chondroplasia, the most common form of human dwarfism.

11 han control littermates and develop a severe dwarfism.

12 to organogenesis, resulting in proportional dwarfism.

13 resulting in disorganized growth plates and dwarfism.

14 also cause glycogen or fat accumulation and dwarfism.

15 owth, causing several genetic forms of human dwarfism.

16 nging from developmental lethality to severe dwarfism.

17 n display cell elongation defects and severe dwarfism.

18 the basis for several genetic forms of human dwarfism.

19 ology of cotyledons, leaves and flowers; and dwarfism.

20 enes result in a similar achondroplasia-like dwarfism.

21 of syndromic craniosynostosis and short limb dwarfism.

22 growth, and missense mutations in GC-B cause dwarfism.

23 hesis of bioactive brassinosteroids, causing dwarfism.

24 g enzyme CONSTITUTIVE PHOTOMORPHOGENESIS AND DWARFISM.

25 appears to be epistatic to Snell and Jackson dwarfism.

26 tions identified previously in thanatophoric dwarfism.

27 Mutations in this locus result in dwarfism.

28 use of GH secretagogues for the treatment of dwarfism.

29 ms with hypsarrhythmia, and dysproportionate dwarfism.

30 an disease characterized by microcephaly and dwarfism.

31 ce loss of VHL in chondrocytes causes severe dwarfism.

32 tations in 29 individuals with microcephalic dwarfism.

33 and mutations in this gene result in severe dwarfism.

34 promotes the ERAD of bri1-9 and enhances its dwarfism.

35 nical H4K20me2 mark, via ORC1, in primordial dwarfism.

36 der resulting in severe skeletal defects and dwarfism.

37 es, sensorineural hearing loss and cachectic dwarfism.

38 or microcephalic osteodysplastic primordial dwarfism 1, and a hereditary intestinal polyposis condit

39 ad circumference 12 s.d. below the mean) and dwarfism (5 s.d. below the mean).

40 postnatal growth retardation, proportionate dwarfism, absence of the GHR and GH binding protein, gre

41 the most common genetic form of short-limbed dwarfism, achondroplasia (ACH), as well as neonatal leth

42 s, including the most common genetic form of dwarfism, achondroplasia (ACH).

43 ysplasias, including the most common form of dwarfism, achondroplasia.

44 m in mice, resulting in cardiac hypertrophy, dwarfism, alopecia, and prenatal mortality.

45 Kcne2-deficient mice had hypothyroidism, dwarfism, alopecia, goiter and cardiac abnormalities inc

46 Dwarfism also tends to occur where an important predator

47 rted question markJusl. Mill.) shows extreme dwarfism, altered leaf morphology, de-etiolation, and re

48 heritable form of murine pituitary-dependent dwarfism (Ames dwarf, df) has been positionally cloned,

49 anterior pituitary hypoplasia, hypopituitary dwarfism and a complete loss of mature lactotropes.

50 ondrodysplasia characterized by short-limbed dwarfism and a delay in endochondral ossification.

51 features of the disease include proportional dwarfism and a predisposition to develop a wide variety

52 in individuals with microcephalic primordial dwarfism and additional congenital anomalies, including

53 of biological pathways underlying primordial dwarfism and adds to a growing list of human diseases li

54 nt paralogs; their absence results in severe dwarfism and almost complete loss of fertility.

55 bri1 brl1 brl3 triple mutants enhance bri1 dwarfism and also exhibit abnormal vascular differentiat

56 family affected by microcephalic primordial dwarfism and biallelic mutation of RTTN was identified.

57 The alopecia, dwarfism and cardiac abnormalities were alleviated by tr

58 ects including neurodevelopmental disorders, dwarfism and cardiac arrhythmia.

59 t screening and future treatment of combined dwarfism and chondrodysplasia.

60 nction mutant allele chs3-2D exhibits severe dwarfism and constitutively activated defense responses,

61 pidermal fluorescence4-3 (ref4-3) results in dwarfism and constitutively repressed phenylpropanoid ac

62 Pat1 mutants exhibit dwarfism and de-repressed immunity dependent on the immu

63 th Dermo1-cre resulted in mice with skeletal dwarfism and decreased bone density.

64 Here we report that the heterozygotes show dwarfism and develop spinal misalignment with age.

65 -CREB transgenic mice exhibited short-limbed dwarfism and died minutes after birth, apparently due to

66 e several skeletal disorders associated with dwarfism and early bone fusion.

67 t displayed a pleiotropic phenotype, extreme dwarfism and early flowering, which disclosed synergisti

68 al dysplasia (MED), is characterized by mild dwarfism and early-onset osteoarthritis and can result f

69 ias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis.

70 in DONSON as a common cause of microcephalic dwarfism and established DONSON as a critical replicatio

71 (pwe) that exhibits severe disproportionate dwarfism and female infertility.

72 27(Kip1) in mice give opposite phenotypes of dwarfism and gigantism.

73 ases, shows pleiotropic phenotypes including dwarfism and hypersensitivity to osmotic/salt stress.

74 droplasia (ACH) is the most frequent form of dwarfism and is caused by gain-of-function mutations in

75 ndrocyte functions, resulting in progressive dwarfism and kyphosis in mice.

76 but some survived and developed progressive dwarfism and lordosis of the cervical spine.

77 ther single mutant, which include pronounced dwarfism and lung abnormalities.

78 use mutant, chagun, that is affected by both dwarfism and male infertility.

79 compromised in Mia3-null embryos, leading to dwarfism and neonatal lethality.

80 Both dwarfism and NIDDM are most likely due to the loss of ex

81 t a phenotype reminiscent of both Laron-type dwarfism and non-insulin-dependent diabetes mellitus (NI

82 ssed nasal bridge, as well as the rhizomelic dwarfism and nonossifying bone lesions that are characte

83 able deficiencies of aggrecan exhibit severe dwarfism and premature death, demonstrating the essentia

84 es in growth rates and morphology, including dwarfism and reduced apical dominance.

85 nd typical GA deficiency phenotypes, such as dwarfism and reduced fertility.

86 A, transgenic plants exhibited phenotypes of dwarfism and reduced organ size.

87 hanism for the pathogenesis of microcephalic dwarfism and show a surprising but important development

88 ransgenic DKO mice were completely free from dwarfism and spinal defects.

89 asone to these plants greatly alleviates the dwarfism and sterility and substantially reverses the bi

90 imate 3'-hydroxylase (C3'H), exhibits severe dwarfism and sterility.

91 Inactivation of CDKF;1 causes extreme dwarfism and sterility.

92 espondingly smaller, indicating proportional dwarfism and suggesting a systemic cause for the overall

93 affected by severe microcephalic primordial dwarfism and tested negative on clinical exome sequencin

94 ion in the KAKTUS (KAK) gene that suppressed dwarfism and the collapsed xylem character, the cause of

95 vo has implications for future research into dwarfism and, particularly, growth and development of th

96 inergic tone, anterior pituitary hypoplasia, dwarfism, and an inability to lactate.

97 forms of OSD exhibit vitreous dysplasia and dwarfism, and could serve as an animal model for the dis

98 iofacial dysmorphism, arthritis, osteopenia, dwarfism, and fibrosis of soft tissues due to ablation o

99 nathia, rhizomelic shortening, microcephalic dwarfism, and mild developmental delay due to loss-of-fu

100 -Gorlin syndrome (MGS), a form of primordial dwarfism, and ORC1 depletion in zebrafish results in an

101 expression in mice is known to cause severe dwarfism, and targeted deletion of STC2 causes increased

102 led to developmental abnormalities including dwarfism, anophthalmia, and 80% embryonic lethality.

103 These benefits of male dwarfism apply well to Osedax (Annelida: Siboglinidae),

104 nd ecological implications of a loss of male dwarfism are discussed.

105 Little is known, however, about the basis of dwarfism as a common element in these diverse signaling

106 NH3 knockdown in Arabidopsis thaliana caused dwarfism as the result of a reduced number of mitotic di

107 Mice lacking SAFB1 exhibited dwarfism, as a result of in utero growth retardation, an

108 hondrodysplasia, a rare form of short-limbed dwarfism associated with hypercalcemia and normal or low

109 Overexpression of XND1 resulted in extreme dwarfism associated with the absence of xylem vessels an

110 rovides a potential mechanism for primordial dwarfism associated with this lesion, since reduced m(7)

111 n humans, has now been shown to cause severe dwarfism but not neonatal death.

112 growth deficiency (microcephalic primordial dwarfism), but the genetic heterogeneity is probably mor

113 This induced dominant dwarfism by local feedback inhibition of GRF.

114 uggesting that the mutated amino acid causes dwarfism by preventing an interaction needed for its deg

115 in Rht-B1 and Rht-D1 confer "GA-insensitive" dwarfism by producing DELLA proteins that do not bind th

116 es Rht-B1b and Rht-D1b are thought to confer dwarfism by producing more active forms of these growth

117 extending conditions, including Prop1(df/df) dwarfism, calorie restriction or dietary rapamycin.

118 ery large decreases (such as extreme insular dwarfism) can happen at more than 10 times the rate of i

119 sent PRKG2 R678X as a causative mutation for dwarfism cattle.

120 lar to achondroplasia, the most common human dwarfism, caused by activating mutations in FGFR3.

121 ng abnormalities resembling atelectasis, and dwarfism characterized by aberrant cartilage morphology.

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

123 of a constitutive stress response, including dwarfism, closed stomata, and anthocyanin accumulation,

124 recessive disease that results in primordial dwarfism, cognitive deficiencies, and increased sensitiv

125 The iput1 mutants show severe dwarfism, compromised pollen tube guidance, and constitu

126 We show that the severe dwarfism conferred by Rht-B1c is caused by an intragenic

127 Those include dwarfism, constitutive ERK1/2 activation, strongly reduc

128 rant, dominant postnatal lethality, skeletal dwarfism, coronal craniosynostosis and hearing loss; phe

129 Dwarfism correlates with shorter, less mineralized and f

130 Dwarfism could be rescued by the application of brassino

131 s in mammals and suggest that the process of dwarfism could in principle explain small brain size, a

132 bidopsis constitutive photomorphogenesis and dwarfism (cpd) mutant.

133 (det2), constitutive photomorphogenesis and dwarfism (cpd), brassinosteroid insensitive1 (bri1), and

134 nd specific developmental defects, including dwarfism, craniofacial abnormalities and brachymesophala

135 inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibil

136 opic developmental defects, including severe dwarfism, dark green leaves, reduced apical dominance, a

137 The phenotype of TgHMW mice included dwarfism, decreased bone mineral density (BMD), osteomal

138 uding abnormal seedling and leaf phenotypes, dwarfism, delayed flowering and no apical dominance, sug

139 ng of OsGRF3, OsGRF4, and OsGRF5 resulted in dwarfism, delayed growth and inflorescence formation, an

140 e results in a pleiotropic phenotype showing dwarfism, delayed puberty, reduced female reproductive f

141 -terminus linked to Meier-Gorlin syndrome, a dwarfism disorder, impedes proper recruitment of Orc6 in

142 yndrome (ATR-SS), a microcephalic primordial dwarfism disorder.

143 Dwarfism disproportionately affects long bones and is ch

144 s homozygous Amish EVC mutations causing EvC dwarfism do so by disrupting sonic hedgehog (Shh) signal

145 chlorosis, increased light sensitivity, and dwarfism due to decreased levels of chlorophylls, carote

146 subsequent depletion of cilia and post-natal dwarfism due to premature loss of the growth plate likel

147 been identified for microcephalic primordial dwarfism, encoding proteins involved in fundamental cell

148 we characterized 2 patients with primordial dwarfism, extreme insulin resistance, and gonadal failur

149 Male dwarfism has evolved multiple times in a range of animal

150 tion of Prop1, the gene responsible for Ames dwarfism, has been localized within the contig.

151 Several genetic forms of human dwarfism have been linked to activating mutations in FGF

152 lar defects in mouse models of overgrowth or dwarfism helps to identify the key genes and pathways th

153 ese results, smr1-1 partially suppressed the dwarfism, high SA levels, and cell death phenotypes in a

154 me, microcephalic osteodysplastic primordial dwarfism I [MOPD] types I and II, and Meier-Gorlin syndr

155 rare human genetic disorder characterized by dwarfism, immunodeficiency, genomic instability and canc

156 e (BS) is a genetic disorder associated with dwarfism, immunodeficiency, reduced fertility, and an el

157 pedigree to identify the mutation underlying dwarfism in American Angus cattle.

158 function mutations in AtIWS1 lead to overall dwarfism in Arabidopsis, reduced BR response, genome-wid

159 n understanding the etiology of proportional dwarfism in BS.

160 plasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 in

161 chondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutat

162 s comprises the most common genetic forms of dwarfism in humans and includes achondroplasia, hypochon

163 last growth factor receptor 3 (FGFR3), cause dwarfism in humans.

164 ondroplasia, the most common genetic form of dwarfism in humans.

165 Activating mutations of its c isoform cause dwarfism in humans; somatic mutations can drive oncogeni

166 rtebrates from gigantism in small species to dwarfism in large species.

167 role is further supported by the presence of dwarfism in mice overexpressing STC1.

168 endochondral bones was evident, resulting in dwarfism in mutant mice.

169 Here, we show that this dwarfism in pea (Pisum sativum) is not attributable to t

170 r bone growth and the resulting short-limbed dwarfism in the mutant mice.

171 cylic acid is unlikely to be responsible for dwarfism in this mutant.

172 an intraspecific 'late ontogenetic' model of dwarfism in which brain size scales to body size with an

173 with an apparently novel form of primordial dwarfism in which severe growth deficiency is accompanie

174 are associated with decreased body weights (dwarfism), increased longevity, increased resistance to

175 exhibit specific endocrine phenotypes, i.e. dwarfism, infertility, and diabetes.

176 Besides skeletal dwarfism, internal organs are correspondingly smaller, i

177 Primordial dwarfism is a group of human single-gene disorders with

178 Primordial dwarfism is a state of extreme prenatal and postnatal gr

179 Dwarfism is associated with reduced abundance of a small

180 these techniques for stature lengthening in dwarfism is somewhat less widespread.

181 ondroplasia, the most common genetic form of dwarfism, is an autosomal dominant disorder whose underl

182 chondroplasia (ACH), the most common form of dwarfism, is an inherited autosomal-dominant chondrodysp

183 lasia, the most common genetic form of human dwarfism, is caused by a similar transmembrane domain mu

184 ondroplasia, the most common genetic form of dwarfism, is caused by mutations in FGFR3.

185 chondroplasia, the most common form of human dwarfism, is due to a G380R mutation in the transmembran

186 omal recessively inherited chondrodysplastic dwarfism, is frequent among Old Order Amish of Pennsylva

187 Abnormal growth plate function, resulting in dwarfism, is the consequence of mutations in receptors f

188 acterized by neonatal lethality and profound dwarfism, is the result of FGFR3 mutations, including an

189 ized epi-metaphyseal dysplasia, short-limbed dwarfism, joint laxity and early onset osteoarthritis.

190 l dysplasia, including the neonatally lethal dwarfism known as thanatophoric dysplasia.

191 Phenotypes include dwarfism, leaf twisting, disorganized differentiation of

192 Although the microcephaly- and primordial dwarfism-linked centrosomal protein CEP215 has been impl

193 The dwarfism locus was fine-mapped to BTA6 between markers A

194 eatures, including short lifespan, cachectic dwarfism, lordokyphosis, cataracts, loss of subcutaneous

195 settes, floral organ defects, low fertility, dwarfism, loss of apical dominance, and altered response

196 rproduction in Arabidopsis thaliana leads to dwarfism, making in planta assessment of SA effects diff

197 lso causes pleiotropic phenotypes, including dwarfism, male sterility and the development of swelling

198 ble way of treating the ER stress-associated dwarfism MCDS.

199 The short-limbed dwarfism metaphyseal chondrodysplasia type Schmid (MCDS)

200 cterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation.

201 (XP20BE) who had severe symptoms of CS, with dwarfism, microcephaly, retinal degeneration, and mental

202 and microcephalic osteodysplastic primordial dwarfism (MOPD II), both of which are characterized by g

203 e a common cause of microcephalic primordial dwarfism (MPD), a phenotype characterized by prenatal-on

204 ontribute to the pronounced microcephaly and dwarfism observed in these individuals by altering centr

205 sitive receptor, indicated by suppression of dwarfism of BR-deficient and BR-perception mutants and b

206 d has been questioned in the special case of dwarfism of mammals on islands.

207 Severe dwarfism of psi2-1 psi3-1 plants results from reduced ce

208 In contrast, the extreme dwarfism of Rht-D1c is due to overexpression of the semi

209 oring the BR sensitivity and suppressing the dwarfism of the bri1-9 mutant.

210 nd mur10 co-segregated with reduced vigor or dwarfism of the plants.

211 y but did not rescue either the short-limbed dwarfism or decreased chondrocyte proliferation.

212 ecular basis of two patients with primordial dwarfism (PD) in a single family through utilization of

213 g a potential mechanism for microcephaly and dwarfism phenotypes.

214 failure, neurological dysfunction, cachetic dwarfism, photosensitivity, sensorineural hearing loss,

215 ns in the parent organism (e.g., shrubbiness/dwarfism, pleiocotyly, abnormal leaf morphogenesis, dist

216 e disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease.

217 ed dramatic developmental defects, including dwarfism, reduced apical dominance, extreme longevity, d

218 These changes were associated with dwarfism, reduced carbon dioxide assimilation, and accel

219 ve phenotypes including delayed germination, dwarfism, reduced fertility, and overaccumulation of the

220 sults in GA-insensitive phenotypes including dwarfism, reduced fertility, delayed flowering, and incr

221 e entire ERECTA family genes led to striking dwarfism, reduced lateral organ size and abnormal flower

222 xhibit strong pleiotropic effects, including dwarfism, reductions in chlorophyll levels, photosynthet

223 icular skeleton lengths, and improvements in dwarfism-related clinical features included flattening o

224 Tcf1-/- mice have type 2 diabetes, dwarfism, renal Fanconi syndrome, hepatic dysfunction an

225 tion complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

226 (GH) insensitivity syndrome] is a hereditary dwarfism resulting from defects in the GH receptor (GHR)

227 Dwarfism results when this process is disrupted, as in t

228 which is non-lethal and presents less severe dwarfism, results almost exclusively from a G380R substi

229 ce resulted in phenotypic changes, including dwarfism, rickets, osteomalacia, hypophosphatemia, incre

230 The proportional dwarfism seen in the human is consistent with the small

231 Homozygous mutants exhibit extreme dwarfism, sexual infantilism and significant perinatal m

232 outbreak, in China, of duck beak atrophy and dwarfism syndrome (BADS) was investigated using electron

233 ndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic

234 ans, CUL7 was found to be mutated in the 3-M dwarfism syndrome characterized by severe pre- and postn

235 S) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-o

236 terozygous mutations in SOX9 lead to a human dwarfism syndrome, Campomelic dysplasia.

237 n FGF receptor 3 (FGFR3) cause several human dwarfism syndromes by affecting both chondrocyte prolife

238 mutations cause several craniosynostoses and dwarfism syndromes in humans.

239 rlying cause of several craniosynostoses and dwarfism syndromes in humans.

240 cts the embryonic onset of a neonatal lethal dwarfism, thanatophoric dysplasia type II (TDII).

241 Two particularly severe dwarfisms, thanatophoric dysplasia type II (TDII) and se

242 progressive dysplasia and have short-limbed dwarfism that is consistent in severity with the relevan

243 ernebrae and, in addition, exhibit postnatal dwarfism that is coupled to significantly decreased expr

244 , cause a form of osteodysplastic primordial dwarfism that is sometimes reported to be associated wit

245 the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disea

246 ssibility that loss of its function produces dwarfism through reduced tolerance of replicative stress

247 hx3 W227ter mice survive, but display marked dwarfism, thyroid disease, and female infertility.

248 the genetic basis for a recessive brachytic dwarfism trait (dw) in peach (Prunus persica) that has l

249 ith microcephalic osteodysplastic primordial dwarfism type I (MOPD I), a severe developmental disorde

250 CPH) and Majewski osteodysplastic primordial dwarfism type II (MOPDII) are both genetic diseases that

251 Majewski osteodysplastic primordial dwarfism type II (MOPDII) is caused by mutations in the

252 rome and Majewski osteodysplastic primordial dwarfism type II) have implicated fundamental cellular p

253 ski/microcephalic osteodysplastic primordial dwarfism type II, making a detailed understanding of its

254 A crippling dwarfism was first described in the Miniature Poodle in

255 fed a high P(i) diet, BMD was increased, and dwarfism was partially reversed.

256 Historically, dwarfism was the major genetic defect in U.S. beef cattl

257 mise ER retention of bri1-9 and suppress its dwarfism, whereas EBS2 over-expression enhances its dwar

258 Strikingly, these mice show marked dwarfism, which is first detectable around weaning, and

259 h, knockdown of the NSMCE2 ortholog produced dwarfism, which was ameliorated by reexpression of WT, b

260 ons severely limit bone growth, resulting in dwarfism, while inactivating mutations significantly enh

261 rogyria, to include microcephalic primordial dwarfism with a complex brain phenotype involving simpli

262 trophic zone creating a phenotype resembling dwarfism with chondrodysplasia.

263 ouse embryos produces a similar phenotype of dwarfism with decreased chondrocyte proliferation, delay

264 sition 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia.

265 eted deletion of Ihh results in short-limbed dwarfism, with decreased chondrocyte proliferation and e

266 nconspicuous differences in size but develop dwarfism within the first 4 weeks of life.