ライフサイエンスコーパス: familial

1 the respective relatives was more common in familial (17/20, 85%) than in sporadic (10/22, 45%) pedi

2 h the development of Alzheimer's disease and familial acne inversa in humans.

3 The majority of early-onset familial AD (EOfAD) cases involve dominant mutations in

4 om 70 individuals in a longitudinal study of familial AD (FAD).

5 Approximately 2% of AD cases are due to familial AD (FAD); ~98% of cases are sporadic AD (SAD).

6 d control subjects, as well as subjects with familial AD and sporadic AD.

7 y enabled investigators to develop models of familial AD by overexpressing human genes such as those

8 We employed the 5xFAD model of familial AD crossed with mouse lines labeling excitatory

9 We compare hiPSCs bearing familial AD mutations vs. their wild-type (WT) isogenic

10 that influence this processing either induce familial AD or mitigate the risk of AD.

11 ck out (KO) cells and fibroblasts from PSEN1 familial AD patients, which restores lysosomal proteolys

12 (n = 10), and normal pouch from patient with familial adenomatous polyposis (n = 6).

13 ith ulcerative colitis (UC) versus controls (familial adenomatous polyposis [FAP]).

14 elaying disease progression in patients with familial adenomatous polyposis are unknown.

15 eukemia) and inherited conditions (Lynch and familial adenomatous polyposis), by changing only 2 tiss

16 In this trial involving patients with familial adenomatous polyposis, the incidence of disease

17 pared with either drug alone, in adults with familial adenomatous polyposis.

18 a mutation in human timeless that underlies familial advanced sleep phase syndrome (FASPS), our resu

19 in E (GSDME, also known as DFNA5)-mutated in familial ageing-related hearing loss(2)-can be cleaved b

20 Familial aggregation across distant relatives minimizes

21 ortion of colorectal cancer (CRC) cases have familial aggregation but little is known about the genet

22 The models allowed for residual familial aggregation of breast and ovarian cancer and we

23 expressed RNA-binding protein implicated in familial ALS and frontotemporal dementia (FTD).

24 he C9orf72 gene are the most common cause of familial ALS and FTD (C9-ALS/FTD), and lead to both repe

25 tation E102Q in S1R has been reported in few familial ALS cases.

26 Familial ALS mutations in ubiquitin-like domain (ULD) or

27 More interestingly, familial ALS patient fibroblasts showed higher levels of

28 n addition, TDP-43 inclusions are evident in familial ALS phenotypes linked to multiple gene mutation

29 1 (SOD1) are the second most common cause of familial ALS, and considerable evidence suggests that th

30 nds lifespan in the SOD1-G93A mouse model of familial ALS.

31 Using a mouse model of familial-ALS, hSOD1(G93A), we demonstrate NK cell accumu

32 Several APP mutations cause familial Alzheimer's disease (AD), while the Icelandic A

33 Familial Alzheimer's disease (fAD) mutations alter amylo

34 (PS1) mutations are the most common cause of familial Alzheimer's disease (FAD).

35 Additionally, in vivo studies in the familial Alzheimer's disease 5xFAD murine model revealed

36 nd longitudinal cohort study, members of the familial Alzheimer's disease Colombian kindred aged 8-75

37 with ageing and in mouse models that express familial Alzheimer's disease genes.

38 rocedures) for sporadic Alzheimer's disease, familial Alzheimer's disease, autism spectrum disorder a

39 ration at the early presymptomatic stages of familial Alzheimer's disease, which supports its potenti

40 ed a yield of 1% for Fabry disease, 0.3% for familial amyloidosis, 0.15% for PRKAG2-related cardiomyo

41 Two patients with familial amyotrophic lateral sclerosis (ALS) and mutatio

42 st before disease onset in mice expressing a familial amyotrophic lateral sclerosis (ALS)-causing mut

43 in containing 1 (GLT8D1) are associated with familial amyotrophic lateral sclerosis (ALS).

44 BK1 gene associate with or cause sporadic or familial amyotrophic lateral sclerosis (ALS).

45 n (HRE) in C9orf72 is the commonest cause of familial amyotrophic lateral sclerosis (ALS).

46 UBQLN2 mutations result in familial amyotrophic lateral sclerosis (ALS)/frontotempo

47 n within the C9orf72 gene is a main cause of familial amyotrophic lateral sclerosis and frontotempora

48 protein-43 (TDP-43) have been identified in familial amyotrophic lateral sclerosis.

49 aged 42, interquartile range 33-49, 20 from familial and 22 nonfamilial pedigrees; 37 clinically aff

50 were found in 14.1% of patients: 27.6% were familial and 8% were isolated.

51 were found in 14.1% of patients; 27.6% were familial and 8% were isolated.

52 Approximately 10% of ALS cases are familial and 90% are sporadic.

53 n the diagnostic referral cohort enriched in familial and early-onset DCM.

54 ne-rich repeat kinase 2 (LRRK2) mutations in familial and idiopathic PD has emerged.

55 evidence of autoimmunity in the majority of familial and in almost half of sporadic ARVC.

56 ses were performed on 13 tissue samples from familial and nonfamilial DGCR8-E518K-positive tumors, in

57 cursor protein (APP) is associated with both familial and sporadic forms of Alzheimer's disease.

58 at can ultimately lead to the development of familial and sporadic haematological malignancies, inclu

59 First-degree relatives of patients with both familial and sporadic IPF appear to be at similar risk.

60 in considering it along with other clinical, familial, and rare genetic factors that are currently us

61 rotein calsequestrin cause the highly lethal familial arrhythmia catecholaminergic polymorphic ventri

62 cation of a female protective effect is that familial ASD liability would be expected to aggregate as

63 Significant familial associations of both GCA and TA with such a num

64 The study of familial autoimmune diseases can reveal pathophysiologic

65 Primary familial brain calcification (PFBC) is a rare neurodegen

66 Both are associated with primary familial brain calcification (PFBC), a genetic disease c

67 in cancer risks and primarily associate with familial breast and ovarian cancers.

68 membrane protein 2B (ITM2b/BRI2) gene cause familial British and Danish dementia (FBD and FDD), auto

69 Complement gene mutations can cause familial C3 glomerulopathy, and studies have reported ra

70 t influence WT risk, with sequencing of rare familial cases and large WT cohorts revealing an expandi

71 Our results indicate that similar to familial cases of deafness, variants in a large number o

72 We identified familial cases of IMD in the UK meningococcal disease st

73 ) had sporadic DCM, whereas 60% (21/35) were familial cases.

74 one aunt were identified as carriers of the familial CDH1 mutation and subsequently received gastrec

75 Severely compromised LPL activity causes familial chylomicronemia syndrome (FCS), which is associ

76 for lowering triglycerides in patients with familial chylomicronemia syndrome.

77 taneous melanoma families, and the causes of familial clustering in the remainder are unknown.

78 We investigated familial clustering of cardiac conduction defects and pa

79 , we aimed to estimate the co-occurrence and familial co-aggregation of these disorders within the en

80 Project), Massively Parallel Sequencing for Familial Colon Cancer Genes, Medullary Thyroid Carcinoma

81 ronic Lymphocytic Leukemia, Impact of Remote Familial Colorectal Cancer Risk Assessment and Counselin

82 a deliberate investigation, evaluation for a familial component of cardiomyopathy can lead to increas

83 Multiple studies have reported a strong familial component to EoE, with the presence of EoE incr

84 Co-relative analyses indicated that familial confounding accounted for some, but not all, of

85 fied in 10% of probands in our cohort-4 with familial congenital heart disease, 4 with compound heter

86 omics on serum samples from individuals with familial coronary artery disease (CAD) (n = 462) and pop

87 s the hallmark feature of autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE),

88 d 50 years of age with potentially increased familial CRC risk.

89 We summarize current knowledge of common familial CRC, provide an update on syndromes associated

90 with cancer syndromes; this is called common familial CRC.

91 rization of genetic variants associated with familial CRC.

92 lack of the germline mutations that underlie familial cysts and a decreased prevalence of the p.S745L

93 hilemmal cysts are genetically distinct from familial cysts due to a lack of the germline mutations t

94 somatic mutation in contrast to 100% of the familial cysts.

95 12) while clinical investigations identified familial DCM in a total of 32% (n=35).

96 nic/likely pathogenic variants identified in familial DCM provides a firm basis for offering genetic

97 tance of clinical investigations to identify familial DCM.

98 ing to participate in political, social, and familial decision-making.

99 Notably, other genes mutated in Familial dementia, such as APP, PSEN1/PSEN2, are implica

100 cted role for FXIII-A in the pathobiology of familial dermatofibroma.

101 rapy and prevention, combined with augmented familial diffusion or "cascade" of genomic risk informat

102 C (LMNA) gene mutations are a known cause of familial dilated cardiomyopathy, but the precise mechani

103 Family segregation analysis showed familial disease in 46% of patients with DCM who were in

104 cysts is one of the most common single gene familial diseases in humans.

105 rts in the system organ class "congenital or familial disorders" were searched for NTDs.

106 The familial distribution of male and female births is no ex

107 sporadic trichilemmal cyst, six were likely familial due to the presence of the p.S460L germline var

108 ploring why the Elp1 gene that is mutated in familial dysautonomia (FD) causes peripheral neuropathy.

109 Familial dysautonomia (FD) is the most prevalent form of

110 AN III), also known as Riley-Day syndrome or familial dysautonomia, do not have functional muscle spi

111 We illustrate empirically how familial effects can affect estimates using data from 61

112 of controlling for population structure and familial effects in Mendelian randomization studies.

113 biased due to uncontrolled confounding from familial effects.

114 potentially causal mechanism or genetic and familial environmental confounding factors that increase

115 le explanations for the lack of evidence, in familial epilepsies, of the maternal effect observed in

116 hether this "maternal effect" was present in familial epilepsies, which are enriched for genetic fact

117 f a maternal effect on epilepsy risk in this familial epilepsy cohort.

118 bopoietin receptor (TpoR) drive sporadic and familial essential thrombocythemias (ETs).

119 No GGC repeats of >60 units were detected in familial ET cases and controls, although 4 ET patients c

120 HD) and whether such risks are due to shared familial factors are unclear.

121 were conducted to explore the role of shared familial factors including partly shared genetics.

122 Whether genetic and familial factors influence the association between cardi

123 These findings indicate that genetic and familial factors influence the association of CRF with C

124 been observed, but the role of nicotine and familial factors remains unclear.

125 rather environmental tobacco smoke and other familial factors seem to explain observed associations.

126 independently of psychiatric comorbidity and familial factors shared between siblings.

127 d when adjusting for measured and unmeasured familial factors shared by siblings.

128 ttenuation of estimates when controlling for familial factors using sibling comparisons suggests that

129 ns suggests that the differences were due to familial factors, rather than being causal.

130 ional attainment, early life environment and familial factors.

131 ssociation of having CH when controlling for familial factors.

132 ibling comparisons to account for unmeasured familial factors.

133 antibiotics, breastfeeding, missing data, or familial factors.

134 , accounting for psychiatric comorbidity and familial factors.

135 C-section indication, missing covariates, or familial factors.

136 cerebral amyloid angiopathy (HCAA) is a rare familial form of CAA in which mutations within the (Abet

137 particular because of its implication in the familial form of the neurodegenerative disease amyotroph

138 Familial forms of AD are tied to mutations in the amyloi

139 the progression of AD.SIGNIFICANCE STATEMENT Familial forms of Alzheimer's disease (AD) are tied to m

140 Familial forms of Alzheimer's disease (FAD) are caused b

141 Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole-exome se

142 the degeneration of dopaminergic neurons in familial forms of Parkinson's disease but the precise pa

143 LRRK2 has been associated with sporadic and familial forms of Parkinson's disease, and our finding s

144 normal protein aggregation in seven cases of familial frontotemporal dementia (FTD) with mutations in

145 Patients with familial FTD across all mutation groups showed increased

146 oting compounds are a therapeutic avenue for familial FTD caused by progranulin PTC mutations.

147 The familial FTD PET data were compared with healthy control

148 flammation is part of the pathophysiology of familial FTD, warranting further consideration of immuno

149 which attenuated PGRN function could lead to familial FTLD or ALS.

150 The discovery of the role of the PD familial genes PTEN-induced putative kinase 1 (PINK1) an

151 This familial genetic study indicates a central role for Sp1

152 ng analyses assessed the influence of shared familial (genetic and/or environmental) factors.

153 if this association applies to women at high familial/genetic risk.

154 Frequency of familial HCM declined over time (38.8% versus 34.3% vers

155 Familial hemiplegic migraine is an episodic neurological

156 In familial hemiplegic migraine type 1 mice, olcegepant 1mg

157 imaging, we show that awake mice carrying a familial hemiplegic migraine type 2 (FHM2) mutation have

158 ons of the ion pump alpha2-Na/K ATPase cause familial hemiplegic migraine, but the mechanisms by whic

159 ongitudinal neuroimaging study of infants at familial high or low risk for ASD, parent-reported sleep

160 Physicians assess a participant's familial history of CRC using a short questionnaire.

161 manifestation include pathogenic changes in familial HLH genes (PRF1, UNC13D, STXBP2, and STX11), se

162 Familial HLH is associated with genetic cytotoxic impair

163 Optimal care for familial hypercholesterolaemia (FH) requires patient-cen

164 -of-function PCSK9 mutations associated with familial hypercholesterolemia (FH) and clustered at the

165 Patients with familial hypercholesterolemia (FH) have elevated lipopro

166 Humans with familial hypercholesterolemia (FH) have increased lipopr

167 Despite the greater prevalence of familial hypercholesterolemia (FH) in subjects with isch

168 Familial hypercholesterolemia (FH) is a common autosomal

169 rapy is a treatment option for patients with familial hypercholesterolemia (FH) who are unable to rea

170 arian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH)-have been termed the

171 ects in pediatric patients with heterozygous familial hypercholesterolemia are not known.

172 While monogenic familial hypercholesterolemia associates with severely i

173 Familial hypercholesterolemia is characterized by an ele

174 Homozygous familial hypercholesterolemia is characterized by premat

175 A familial hypercholesterolemia mutation was present in 36

176 ct on HDL cholesterol efflux capacity in the familial hypercholesterolemia plasma.

177 In patients with homozygous familial hypercholesterolemia receiving maximum doses of

178 a 1:1 ratio, 482 adults who had heterozygous familial hypercholesterolemia to receive subcutaneous in

179 ex vivo by plasma derived from subjects with familial hypercholesterolemia was assessed.

180 rrhythmias, connective tissue disorders, and familial hypercholesterolemia were identified.

181 rolled patients with or without heterozygous familial hypercholesterolemia who had refractory hyperch

182 d in a 2:1 ratio 65 patients with homozygous familial hypercholesterolemia who were receiving stable

183 this trial involving pediatric patients with familial hypercholesterolemia, evolocumab reduced the LD

184 ce of disease in tier 1 genomic conditions - familial hypercholesterolemia, hereditary breast and ova

185 Among adults with heterozygous familial hypercholesterolemia, those who received inclis

186 n LDL cholesterol levels in all genotypes of familial hypercholesterolemia.

187 umab in pediatric patients with heterozygous familial hypercholesterolemia.

188 cular disorders, and lipid disorders such as familial hypercholesterolemia.

189 otential benefit in patients with homozygous familial hypercholesterolemia.

190 nthesis of PCSK9 in adults with heterozygous familial hypercholesterolemia.

191 1 (WNK1) and WNK4 genes are responsible for familial hyperkalemic hypertension (FHHt), a rare, inher

192 It is mainly used in familial hyperlipidemia.

193 pt of surgery within the previous 24 months, familial hyperparathyroidism, multiglandular disease, an

194 ing protein C), are the most common cause of familial hypertrophic cardiomyopathy.

195 physical mechanism of a mutation that causes familial hypertrophic cardiomyopathy.

196 SR loss- or gain-of-function mutations cause familial hypocalciuric hypercalcemia type 1 (FHH1) or au

197 in nonpsychotic relatives may be related to familial illness risk.

198 by whole-exome sequencing of 2 patients with familial IMD.

199 cted first-degree relatives of patients with familial interstitial pneumonia.Methods: Enrollment eval

200 ce the ultimate phenotype in these different familial leukaemia syndromes.

201 Moreover, the presumption that familial leukaemias only present in childhood is no long

202 These results suggest familial liability contributes to the association betwee

203 rminants of diabetes complications relied on familial linkage analysis suited to strong-effect loci,

204 implicated as a candidate gene in a previous familial linkage study of SLE and rheumatoid arthritis,

205 Rodent models containing familial LRRK2 mutations often lack robust PD-like neuro

206 Familial Mediterranean fever (FMF) is an autoinflammator

207 responsible for the autoinflammatory disease Familial Mediterranean Fever (FMF) map to exon 10 encodi

208 on the outcome of transplant recipients with familial Mediterranean fever (FMF)-associated AA amyloid

209 inst lipopolysaccharide shock and alleviates familial Mediterranean fever and experimental autoimmune

210 ly used for treating gout, pericarditis, and familial Mediterranean fever with high antimitotic activ

211 Genetic analysis of responsible gene of familial Mediterranean fever, MEFV showed E148Q heterozy

212 ssociated with the autoinflammatory disorder familial Mediterranean fever.

213 16 (CDKN2A) and p15 (CDKN2B) (encoded by the familial melanoma CDKN2 locus) inhibit CDK4/6 activity a

214 In humans, DNASE1L3 deficiency causes familial monogenic systemic lupus erythematosus with chi

215 ant mendelian tumor susceptibility syndrome: familial multinodular goiter with schwannomatosis.FUNDIN

216 ewish-predominant mutation associated with a familial multiple cancer syndrome in which carriers shou

217 f PLCdelta1 as a causative genetic defect in familial multiple pilomatricomas.

218 oped Famdenovo to predict DNM status (DNM or familial mutation [FM]) of deleterious autosomal dominan

219 rate unique FTD-related symptoms relative to familial mutation non-carriers.

220 human amyloid precursor protein bearing two familial mutations and asked whether activation of a pho

221 extra N-terminal histidines in pathological familial mutations involving octarepeat expansions inhib

222 Spontaneous and familial mutations to these receptors feature prominentl

223 ides over three decades by identifying novel familial mutations, generating animal models, elucidatin

224 ly, of all FDR, SDR, and TDR were tested for familial mutations.

225 The inclusion of familial myeloid malignancies as a separate disease enti

226 Whether familial natural short sleepers are at risk of the healt

227 Familial neurodegenerative diseases commonly involve mut

228 risk in a previous study consisting of 3,270 familial non-BRCA1/2 breast cancer cases and 2,327 contr

229 or 10 years younger than the initial age of familial onset.

230 Although familial PAH most often has an autosomal-dominant patter

231 ting and counseling should be considered for familial pancreas cancer relatives who are eligible for

232 2 (LRRK2) gene are the most common cause of familial Parkinson disease.

233 repeat kinase 2 (LRRK2) is a common cause of familial Parkinson's disease (PD).

234 al dysfunction is implicated in sporadic and familial Parkinson's disease (PD).

235 mmon cause of late-onset, autosomal-dominant familial Parkinson's disease (PD).

236 t forms of alpha-synuclein and tau linked to familial Parkinson's disease and frontotemporal dementia

237 imed to determine the mutational spectrum of familial Parkinson's disease and sporadic early-onset Pa

238 (LRRK2) is the most commonly mutated gene in familial Parkinson's disease(1) and is also linked to it

239 two variants in UQCRC1 in the probands with familial Parkinson's disease, c.931A>C (p.Ile311Leu) and

240 ase 2 (LRRK2) are the most frequent cause of familial Parkinson's disease.

241 udy aimed to identify novel genes that cause familial Parkinson's disease.

242 nal pathogenicity of rare UQCRC1 variants in familial parkinsonism.

243 nic variant in LMNA associated with Dunnigan familial partial lipodystrophy.

244 contacted ARRs by telephone to disclose the familial pathogenic variant and offer telephone counseli

245 ose completing testing, 27 (41%) carried the familial pathogenic variant.

246 11 patients were included: 64 full germline, familial patients (53 HP and 11 LP) and 47 mosaic patien

247 4695, compared to 209 TA patients; for both, familial patients accounted for 1% of all patients.

248 All familial patients had a parent with a known pathogenic v

249 wild-type human alphaS (WT) or an amplified familial PD alphaS mutation (E35K + E46K + E61K ["3K"])

250 y, none of the identified DEGs was among the familial PD genes or genome-wide associated loci.

251 ng to neurodegeneration in both sporadic and familial PD upon parkin loss-of-function remains unknown

252 pathic Parkinson's disease (PD), one case of familial PD, and six cases of multiple system atrophy (M

253 iven that recessive mutations in PINK1 cause familial PD, the finding of accelerated PINK1 degradatio

254 d mitophagy are evident in both sporadic and familial PD.

255 ation characterized by vast inter- and intra-familial phenotypic heterogeneity.

256 Consequently, in sporadic (or non-familial) PID genetic diagnosis is difficult and the rol

257 ult in the well-described autosomal-dominant familial platelet disorder with predisposition to hemato

258 Our understanding of familial predisposition to CRC and cancer syndromes has

259 DACs develop in patients with hereditary and familial predisposition.

260 nce and VNTR data revealed evidence of intra-familial primary transmission of resistant M. leprae.

261 dependent study populations of the Nashville Familial Prostate Cancer Study and International Consort

262 tionale: Although relatives of patients with familial pulmonary fibrosis (FPF) are at an increased ri

263 We discuss the intra-familial relationships for the southern African Synlesti

264 groups, and magnifies genetic risks through familial repetition.

265 tivity with predicted absolute breast cancer familial risk based on pedigree data and with BRCA1 and

266 omen and premenopausal women with genetic or familial risk factors.

267 e outcome due to the inclusion of infants at familial risk for autism.

268 eurobiological abnormalities associated with familial risk for developing mental illnesses are largel

269 In the present nation-wide study we describe familial risk for GCA and for GCA and TA with any other

270 The familial risk for GCA was 2.14, 2.40 for women and non-s

271 and discrete brain structural correlates of familial risk for mental disorders.

272 ory neurofunctional mechanisms in persons at familial risk for schizophrenia.

273 Population-level familial risk is not known.

274 ly representing one of the pathways in which familial risk is translated into the SCZ phenotype.

275 families (7-9 generations) with significant familial risk of completed suicide.

276 The association was not modified by familial risk or BRCA mutation status (P interactions >0

277 evelopmental trajectories in infants at high familial risk who go on to develop ASD.

278 CRC (oncology clinic cohort), unselected for familial risk.

279 cancer risk for women across the spectrum of familial risk.

280 P via whole exome sequencing (WES) through a familial screening approach.

281 We also provide evidence for familial segregation of a rare nonsense KDR variant with

282 a pathogenic variant in a patient with DCM, familial segregation was performed.

283 cal embedding of adolescents' perceptions of familial social status as indexed by inflammatory biomar

284 Familial standardized incidence ratios (SIRs) were calcu

285 odels adjusting for age, sex, wear time, and familial structure.

286 Goiter, Adjuncts and Approaches Laryngology Familial Thyroid Cancer, Postoperative Care and Complica

287 nd Approaches to Thyroidectomy, Laryngology, Familial Thyroid Cancer, Postoperative Care and Complica

288 ound in 19% of patients, varying from 36% in familial to 13% in nonfamilial DCM.

289 ssed the homogeneity versus heterogeneity of familial transmission of the various forms of insanities

290 Our results indicate that familial trichilemmal cysts is an autosomal dominant tum

291 of the p.S745L somatic mutation relative to familial trichilemmal cysts.

292 ients, including 3 of 27 patients (11%) with familial UM and 6 of 127 patients (4.7%) with a high ris

293 Probands included 27 patients with familial UM, 1 patient with bilateral UM, 1 patient with

294 Fetuses with familial variants showed a lower incidence of signature

295 sense substitution (p.C492Y) associated with familial vibratory urticaria.

296 hood of developing addiction, whether due to familial vulnerability or drug use, was associated with

297 ealthcare claims, electronic health records, familial whole-exome sequences and neurodevelopmental ge

298 tly sporadic trichilemmal cysts are actually familial with incomplete penetrance.

299 Autism spectrum disorder (ASD) is highly familial, with a positively skewed male-to-female ratio

300 these described associations, many cases of familial WT remain unexplained.