ライフサイエンスコーパス: affected individual

1 ort comprised 2614 families (131 genes; 3130 affected individuals).

2 l function in iPSC-RPE cells derived from an affected individual.

3 restenosis and poor quality of life for the affected individual.

4 s autoantibodies that all persist within the affected individual.

5 nd responsible for the growth failure in the affected individual.

6 ucose homeostasis was observed in the eldest affected individual.

7 fatal illness observed in the most severely affected individual.

8 ing nonsense alleles in ADAMTS19 in all four affected individuals.

9 mozygous frameshift CCDC32 variants in three affected individuals.

10 rized in 22 adRP-affected families with >300 affected individuals.

11 similar to what we observe in fibroblasts of affected individuals.

12 ly, contribute to the high mortality rate in affected individuals.

13 homozygous or compound heterozygous in these affected individuals.

14 ed in lymphoblastoid cell lines derived from affected individuals.

15 ses of the cell cycle and is mislocalized in affected individuals.

16 ure and severe fever-induced brain damage in affected individuals.

17 cal course, survival, and quality of life of affected individuals.

18 uals, helps to develop a therapy for all SMA-affected individuals.

19 ed in independent studies and also among AOA-affected individuals.

20 k allele was more common in COA- than in AOA-affected individuals.

21 y explaining the acro-osteolysis observed in affected individuals.

22 essing disturbance in cells derived from two affected individuals.

23 vels of AKT phosphorylation from biopsies in affected individuals.

24 SN (95% CI, 1.3 to 4.3; P = .005) in the NF1-affected individuals.

25 biologically relevant gene shared among all affected individuals.

26 ding the C9ORF72 protein are also reduced in affected individuals.

27 characteristic motor-neuron degeneration in affected individuals.

28 consistent developmental defect observed in affected individuals.

29 investigated in a 4-generation family with 8 affected individuals.

30 1:10.000, and (3) segregated with DCM in >=7 affected individuals.

31 ng rare variants detected by NeuroX array in affected individuals.

32 ere generated from one unaffected and two TD affected individuals.

33 iatry may not turn into therapeutic hope for affected individuals.

34 n (neurofibrillary tangles) in the brains of affected individuals.

35 ch impinges on the optic nerve and/or eye in affected individuals.

36 e-genome sequencing (WGS) on AVM tissue from affected individuals.

37 in amyloid plaques in the nervous systems of affected individuals.

38 B, resulting in upregulation of this gene in affected individuals.

39 accumbens associated 1 (NACC1) gene in seven affected individuals.

40 nd find enrichment of pathogenic variants in affected individuals.

41 activating beta-catenin may be beneficial in affected individuals.

42 ride D0a4 in serum and urine of all analyzed affected individuals.

43 ly guide prognosis for friends and family of affected individuals.

44 iological functions and disease processes in affected individuals.

45 epilepsy, and hypotonia was observed in all affected individuals.

46 tail the AF epidemic and improve outcomes in affected individuals.

47 and compromising overall quality of life of affected individuals.

48 ter similarity (P value = 0.02) to unrelated affected individuals.

49 ast of the affected region even in minimally affected individuals.

50 ype introns detected in blood monocytes from affected individuals.

51 (DD) revealed several regions shared by the affected individuals.

52 based on the clinical characteristics of the affected individuals.

53 of three fibroblast cell lines derived from affected individuals.

54 repeat expansion motif, (ACAGG)exp, in three affected individuals.

55 atter disease and neurological phenotypes in affected individuals.

56 ies, expanding the therapeutic landscape for affected individuals.

57 sis, was also detected in scalp samples from affected individuals.

58 logical as well as biological alterations in affected individuals.

59 itulating the neurological phenotype seen in affected individuals.

60 utlined neurobiological heterogeneity across affected individuals.

61 osis (variants in 135 genes), including 4236 affected individuals.

62 1 activation levels and the head size of the affected individuals.

63 hibit significant clinical variability among affected individuals, a disease characteristic termed va

64 n a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in

65 In seven unrelated affected individuals, all suffering from developmental r

66 It cannot be accomplished by affected individuals alone.

67 investigations to quickly identify and treat affected individuals, along with public health measures

68 Four of the six affected individuals also had early-onset nephropathy wi

69 Fibroblasts derived from an affected individual and ACTB siRNA knockdown in wild-typ

70 PO alleles significantly differed between 82 affected individuals and >4,900 control subjects (p = 1.

71 lidated in an analysis of an additional 6937 affected individuals and 14 917 unaffected individuals (

72 validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals u

73 iduals (60 families) including 88 clinically affected individuals and 37 asymptomatic carriers.

74 IRT1 co-localizes with BCL6 in the nuclei of affected individuals and both proteins bind to and suppr

75 of disease, we reprogrammed fibroblasts from affected individuals and controls into induced pluripote

76 ization of EXTL3 in fibroblasts derived from affected individuals and determined glycosaminoglycan co

77 omic signatures from cell lines derived from affected individuals and FAM50A protein-protein interact

78 ing was performed in a family comprised of 3 affected individuals and filtered to identify rare, pred

79 l metric for predicting clinical severity in affected individuals and for risk stratification.

80 tially devastating consequences for directly affected individuals and for society.

81 but also a significant financial burden for affected individuals and health systems.

82 ting using postmortem brain samples from two affected individuals and ii) relative TAF1 expression in

83 fit of galactose supplementation in PGM1-CDG-affected individuals and obtain significant insights int

84 ded two favored approaches to subclassifying affected individuals and parsing heterogeneity apparent

85 ronic condition with marked implications for affected individuals and public health care.

86 s, and demonstrate consistencies between the affected individuals and Rlbp1/Cralbp(-/-) mice.

87 Nearly all affected individuals and their affected offspring shared

88 In both the affected individuals and their asymptomatic carrier pare

89 s major drivers of psychosocial morbidity in affected individuals and their caregivers.

90 nvestigation, surveillance and management of affected individuals and their families.

91 pathogenic variants were also present in >=7 affected individuals and thereby considered to be of suf

92 pathy, we performed exome sequencing for two affected individuals and two unaffected members in a Tai

93 PNKD long isoform levels are detected in all affected individuals and we provide evidence for a mecha

94 udy (GWAS) in the UK Biobank for COA (13,962 affected individuals) and a separate GWAS for AOA (26,58

95 urodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis w

96 ve strategies, enhanced clinical outcomes in affected individuals, and improved their quality of life

97 of epilepsy among mothers versus fathers of affected individuals; and (3) lineage analysis, comparin

98 e, the skeletal and neural phenotypes of the affected individuals appeared milder and variable, sugge

99 ed with early-life behavioral abnormalities, affected individuals are also at high risk for the devel

100 ring from association analysis, for NPL only affected individuals are analyzed, which can increase po

101 Affected individuals are at risk for kernicterus and req

102 cellular defects in dermal fibroblasts from affected individuals are complemented by the expression

103 The phenotypic features in affected individuals are consistent with those observed

104 The clinical features of affected individuals are highly conserved and include de

105 se physical and psychological harm, and that affected individuals are less likely to receive adequate

106 Because affected individuals are often unaware of their sensorim

107 cles purified from cerebrospinal fluid of AD-affected individuals are seeding-competent.

108 ant phenotype-SCD occurred in 30 (53%) of 57 affected individuals at a median age of 22.5 years.

109 ry of this disorder suggests that untreated, affected individuals become wheelchair-bound and blind.

110 The clinical course in affected individuals began with normal development or mi

111 r >100 individuals, some of whom were single affected individuals born to consanguineous parents and

112 nts in hearing loss in a cohort of singleton affected individuals born to consanguineous parents.

113 es of stature and body weight varied among 8 affected individuals but did not show a consistent trend

114 vel" exposures have a considerable impact on affected individuals but not necessarily the whole popul

115 including EARS2 and TRMU in the majority of affected individuals, but not in healthy carriers of m.1

116 position of gut microbiota may change in IBD affected individuals, but whether dysbiosis is the cause

117 viduals) and a separate GWAS for AOA (26,582 affected individuals) by using a common set of 300,671 c

118 Despite the small size of these lesions, affected individuals can have hundreds to thousands of c

119 ral, and neurological phenotypes observed in affected individuals can vary considerably, making it di

120 eases that represent a significant burden to affected individuals, caregivers, and an ageing populati

121 Affected individuals carried a significant burden of rar

122 Affected individuals carry a heterozygous c.1568T>C (p.L

123 Affected individuals carrying de novo non-synonymous var

124 unoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing

125 ce of RNF13 and IRE1alpha was not altered in affected individuals' cells.

126 d stress-induced apoptosis were increased in affected individuals' cells.

127 characterization of fibroblasts derived from affected individuals closely resembles the abnormal ATP7

128 adhesions in FGF-2-stimulated fibroblasts of affected individuals concentrated at the cell periphery.

129 with the reduced phenotypic severity seen in affected individuals containing this specific mutation.

130 crease the risk of developing CNS cancers in affected individuals, coupled with a greater appreciatio

131 Affected individuals demonstrated a variable neurodevelo

132 Functional tests using affected individual-derived iPSCs showed that these germ

133 S) is an autosomal dominant disorder wherein affected individuals develop multiple basal cell carcino

134 All affected individuals developed spasticity predominantly

135 the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defect

136 All affected individuals died as a result of respiratory fai

137 trophil RNA sequencing, we demonstrated that affected individuals display a prominent IFN-I signature

138 ver, extracts from the same cell lines of ID-affected individuals display a severe reduction in tRNA

139 As affected individuals display a wide variation in their c

140 In addition, many affected individuals display metabolic imbalances, immun

141 with a broad spectrum of phenotypes but all affected individuals display muscular pathology.

142 Surprisingly, lymphoblastoids from affected individuals displayed a marked decrease in stea

143 euronal lysosomal storage abnormalities, the affected individuals displayed severe developmental dela

144 -promoting complex/cyclosome (APC/C), in all affected individuals, either in the homozygous state or

145 LBP1/CRALBP, here we expand the phenotype of affected individuals, elucidate a previously unreported

146 We show that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and

147 Common variants among affected individuals, excluding those common to healthy

148 Affected individuals exhibit early onset drug-resistant

149 Some affected individuals exhibited hypoplastic phenotypes, i

150 activity in vitro and white blood cells from affected individuals exhibited significant reductions of

151 ed sarcoidosis), however, 20% of sarcoidosis-affected individuals experience progressive lung disease

152 Affected individuals experience recurrent episodes of de

153 ere, we show that cell lines derived from ID-affected individuals expressing only ADAT3-V144M exhibit

154 s and p.Thr196Ala variants identified in the affected individuals fail to rescue the loss of Cdk8 and

155 Transcriptomic analysis in affected individual fibroblasts showed deregulation of m

156 Nuclear import of proteins was decreased in affected individuals' fibroblasts, supporting a possible

157 whether or not it is appropriate to refer an affected individual for kidney transplantation.

158 Arg107Gln)] and c.422G>A [p.(Ser141Asn)]) in affected individuals from 2 families and 2 singletons wi

159 assemble genotype and phenotype data for 21 affected individuals from 20 unrelated families with pre

160 Thirty-six affected individuals from 23 unrelated families.

161 individuals with Wilms tumour, including 91 affected individuals from 49 familial Wilms tumour pedig

162 Affected individuals from both families shared a rare, h

163 Affected individuals from families A, B, and E underwent

164 nts in DHPS segregating with disease in five affected individuals from four unrelated families.

165 port bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families.

166 Eighteen affected individuals from nine unrelated families showed

167 ition, our analysis of skin fibroblasts from affected individuals from seven unrelated families indic

168 Here we present six affected individuals from six unrelated families, carryi

169 ants were detected by exome sequencing in 14 affected individuals from ten unrelated families present

170 l autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first repor

171 To distinguish this subset of affected individuals from the DRPLA diagnosis, we sugges

172 e and another Israeli pedigree (total of ten affected individuals from three different families).

173 Here, we report seven affected individuals from three unrelated families who h

174 he nicotinic acetylcholine receptor, in five affected individuals from three unrelated families with

175 We performed whole-exome sequencing on two affected individuals from two separate branches of the e

176 nse mutation c.1382C>T (p.Pro461Leu) in four affected individuals from two unrelated families.

177 rteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations.

178 In line with this, an affected individual had mildly elevated urinary galactit

179 Variation in age of onset among COA-affected individuals had a low heritability (h(2)(g) = 5

180 on to reduced volume of pons and cerebellum, affected individuals had microcephaly, psychomotor delay

181 All affected individuals had neurodegenerative disease with

182 Affected individuals had recurrent fractures and at leas

183 While 19%-41% of affected individuals harbor bi-allelic mutations in IL36

184 frequently in the Amish, where virtually all affected individuals harbor homozygous founder mutations

185 SMA-affected individuals harbor low SMN expression from one

186 irculating cell-free mtDNA in unaffected and affected individuals harbouring mutations in PRKN/PINK1

187 Each of the affected individuals has severe cognitive impairment and

188 their etiology remains incomplete, and many affected individuals have an unknown genetic diagnosis.

189 Most of the affected individuals have global developmental and/or in

190 nge of intellectual functioning; a number of affected individuals have intellectual disability (ID) a

191 Subsets of affected individuals have malformations such as coloboma

192 the possibilities of improving the lives of affected individuals have never seemed more promising.

193 More than 35% of affected individuals have nonsense mutations in MECP2.

194 Affected individuals have overlapping phenotypes charact

195 Affected individuals have severe developmental delay, dy

196 Transcriptomic analysis of fibroblasts from affected individuals highlights a group of differentiall

197 Affected individuals in both families exhibited severe v

198 tion in primary fibroblasts derived from all affected individuals in this study.

199 Clinical features of affected individuals include variable levels of intellec

200 Further complications observed in two affected individuals included liver dysfunction and micr

201 ing genes duplicated in some but not all the affected individuals included the brain-expressed genes

202 oblast cell lines derived from more severely affected individuals, indicating the identified HPDL var

203 of PRKACA or PRKACB variants detected in the affected individuals inhibited hedgehog signaling in NIH

204 g that at least one of the mutations in each affected individual is hypomorphic.

205 nersen in severe and/or post-symptomatic SMA-affected individuals is insufficient to counteract the d

206 PD) is urgently needed because the number of affected individuals is projected to increase rapidly as

207 The presentation in affected individuals is variable, with a diversity of ti

208 ildhood maltreatment (CM) have been found in affected individuals, it remains unknown to what degree

209 The majority of affected individuals never learned to walk (68%).

210 In the RLBP1/CRALBP-affected individuals, nonrecordable rod-specific electro

211 higher risk of mild cognitive impairment (37 affected individuals (odds ratio, 1.65 [95% CI, 1.01-2.6

212 myocardial and skeletal muscle biopsies from affected individuals of both families demonstrated chara

213 e region of homozygosity shared amongst four affected individuals on chromosome 7p22 (positions 30593

214 ts of this single-nucleotide polymorphism in affected individuals, one of which is characterized here

215 led TBC1D8B presence in human glomeruli, and affected individual podocytes displayed architectural ch

216 ing processes were dramatically decreased in affected individuals' podocytes and fibroblasts, confirm

217 Affected individuals present with a spectrum of neurodev

218 All affected individuals presented optic atrophy, associated

219 All affected individuals presented with epileptic encephalop

220 The affected individuals presented with rapidly progressive

221 Affected individuals presented with variable skeletal ab

222 a consanguineous Pakistani family with three affected individuals presenting with microcephaly, sever

223 nancies (RUNX1-FPD, FPD/AML, FPDMM); ~44% of affected individuals progress to AML or myelodysplastic

224 ive deletions were significantly enriched in affected individuals relative to their unaffected siblin

225 However, at least 40% of affected individuals remain without a clinical genetic d

226 RNA sequencing of the scalp skin from IFAP-affected individuals revealed a dramatic reduction in tr

227 Genetic analysis of affected individuals revealed a homozygous missense muta

228 roscopy of the sciatic nerve from one of the affected individuals revealed a lack of myelin.

229 ng studies employed here in large cohorts of affected individuals revealed biallelic mutations in ARH

230 Brain imaging from all five affected individuals revealed varying degrees of cortica

231 ether it is possible to predict a given PHTS-affected individual's a priori risk of ASD, cancer, or t

232 All five affected individuals share a recurrent missense variant

233 ircuits important for fine motor skills, and affected individuals show abnormalities in these brain r

234 Affected individuals show brain abnormalities with micro

235 Affected individuals show HMN/CMT2 with slowly progressi

236 While most affected individuals show some improvement, particularly

237 ions are spread along the TRIO sequence, and affected individuals show variable neurodevelopmental ph

238 Keratinocytes from an affected individual showed loss of kinase activity upon

239 duced pluripotent stem cells derived from an affected individual showed reduced expression of GDF6 co

240 It is notable that two severely affected individuals showed 2-oxoglutaric aciduria, whic

241 MADD mRNA and protein in fibroblasts of five affected individuals showed a drastic reduction or loss

242 cence staining of myelinated fibres from two affected individuals showed a severe loss of myelinated

243 ysis of blood cells and fibroblasts from the affected individuals showed decreased cell surface prese

244 etric analysis of blood and fibroblasts from affected individuals showed decreased cell surface prese

245 cient nasal epithelial cells from one of the affected individuals showed defects in ciliary orientati

246 Fibroblasts from affected individuals showed ER cisternae abnormalities,

247 Affected individuals showed facial dysmorphism with coar

248 Cells derived from affected individuals showed normal ciliogenesis but seve

249 Analysis of fibroblasts derived from two affected individuals shows that the fusion gene product

250 ng analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant

251 ntations; there are distinct subsets of PHTS-affected individuals, such as those diagnosed with autis

252 Affected individuals suffer from refractory seizures, de

253 s absent in the fibroblasts derived from two affected individuals suggesting a loss-of-function effec

254 accumulation at the PC tip in cells from the affected individuals suggests a potential function of SM

255 hypertension among first-degree relatives of affected individuals support a genetic contribution to t

256 leton, kidneys and esophagus, similar to the affected individuals, supporting the role of WBP11 haplo

257 vertebrae, heart, limbs, and kidney, and no affected individual survived for more than three months

258 lysis approaches that can be applied to only affected individuals; tests using family-based designs a

259 of cathepsin B in the stratum granulosum of affected individuals than in that of control individuals

260 led by a point mutation identified in an NTD-affected individual that results in functionally impaire

261 ses ERK1/2 in FGF-2-stimulated cell lines of affected individuals that could be restored by addition

262 However, for approximately 10% of affected individuals, the genetic cause of the disease i

263 In fibroblasts from affected individuals, the mutated SLC25A24 showed normal

264 MCDs place a substantial burden on affected individuals, their families and societies world

265 Diabetes mellitus predisposes affected individuals to a significant spectrum of cardio

266 Exposure of fibroblasts from affected individuals to heat shock resulted in a marked

267 achycardia, and muscle wasting, predisposing affected individuals to substantial morbidity and mortal

268 acquired long-QT syndrome, which predisposes affected individuals to ventricular arrhythmias and sudd

269 sm, albeit imperfect, given the phenotype of affected individuals, to maintain steady-state O-GlcNAc

270 Genomic sequencing analyses in seven affected individuals uncovered four distinct heterozygou

271 and the mildly affected father of the fourth affected individual was confirmed as mosaic for this var

272 The number of affected individuals was highest in China, followed by t

273 gic analysis of platelets derived from three affected individuals was performed using electron micros

274 lar to individuals with MEDNIK syndrome, the affected individuals we report display abnormal copper m

275 g the whole-exome sequencing of 19 unrelated affected individuals, we identified a subject harboring

276 ole-exome sequencing of a cohort of 167 MMAF-affected individuals, we identified bi-allelic loss-of-f

277 hoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to tho

278 Affected individuals were found to possess biallelic los

279 Three affected individuals were found with the same PRKACA var

280 segregating a PAX9 mutation reveal that all affected individuals were missing the mandibular second

281 Skin fibroblasts from eight affected individuals were studied by high resolution imm

282 d deleterious variants, segregating with the affected individuals, were identified by exome sequencin

283 ced in primary skin fibroblasts derived from affected individuals, while the total number and density

284 Some affected individuals will spontaneously recover partial

285 In an additional affected individual with RHD and a congenital heart defe

286 number of genes implicated, about 10%-20% of affected individuals with a clinical diagnosis of NS do

287 s Hospital of Philadelphia cohort, among NF1-affected individuals with a primary tumor, the risk of S

288 Exome sequencing in a family with four affected individuals with anatomical blockage of the ure

289 We present six affected individuals with bi-allelic truncating variants

290 Three unrelated affected individuals with congenital microcephaly, infan

291 for documented differences in sex and IQ in affected individuals with de novo mutations by matching

292 ineage analysis, comparing the proportion of affected individuals with family history of epilepsy on

293 studied a large family consisting of several affected individuals with hematologic abnormalities, inc

294 TCA-cycle-related genes to DNA from 104 PPGL-affected individuals with no mutations in the major know

295 er Survivor Study and 176 nonoverlapping NF1-affected individuals with primary tumors from University

296 Most affected individuals with protein-truncating variants pr

297 cardiac dysfunction, early identification of affected individuals with readily available noninvasive

298 Shared phenotypes between affected individuals with TKFC deficiency include catara

299 e genome-wide association studies of CTDs in affected individuals without 22q11.2DS.

300 Ideally, affected individuals would be identified at an early sta