ライフサイエンスコーパス: familial

1 , but a small percentage of AD cases, called familial AD (FAD), are associated with mutations in pres

2 e models that overexpress proteins linked to familial AD (FAD), mutant amyloid precursor protein (APP

3 ar, genetic deletion of Prnp rescued several familial AD (FAD)-associated phenotypes after disease on

4 d by a well-known inflammation inducer and a familial AD mutation.

5 or protein harboring the Swedish and Indiana familial AD mutations.

6 d precursor protein (hAPP mice), a model for familial AD that produces high brain levels of Abeta.

7 ficits in APPswe/PS1DeltaE9 mice, a model of familial AD.

8 ancer in high-risk groups such as those with familial adenomatosis polyposis (FAP) or inflammatory bo

9 f adenomas after 4-6 months of treatment for familial adenomatous polyposis (FAP) patients.

10 m, combinatorial chemoprevention efficacy in familial adenomatous polyposis (FAP), signal of benefit

11 strategy to iPSCs derived from patients with familial adenomatous polyposis (FAP-iPSCs) harboring ger

12 al polyp in animals and in patients with the familial adenomatous polyposis by downregulating beta-ca

13 Ectopic expression of APC, but not its familial adenomatous polyposis-related truncation mutant

14 ects had pathogenic variants associated with familial adenomatous polyposis.

15 Familial aggregation has been described for primary mitr

16 ure genetic and environmental factors in the familial aggregation of AF and to estimate the associati

17 factors, as well as an opportunity to assess familial aggregation of risk without the threat of recal

18 uspid valve, data are limited on the overall familial aggregation of this disease.

19 tropenic effect (9%, P = .012), demonstrated familial aggregation, and associated with chronic obstru

20 ries between BDI and BDII by assessing their familial aggregation/coaggregation and by assessing the

21 viously, PSENEN mutations were identified in familial AI, and comanifestation of DDD and AI has been

22 ortem normal control subjects, patients with familial ALS (fALS), sporadic ALS (sALS), ALS with front

23 ed survival in the SOD1(G93A) mouse model of familial ALS by 11 d.

24 identification of profilin1 mutations in 25 familial ALS cases has linked altered function of this c

25 eostasis are common features of sporadic and familial ALS forms.

26 demonstrate the IMS-UPRmt activation in SOD1 familial ALS, and suggest that sex differences in the di

27 he IMS-UPRmt in the G93A-SOD1 mouse model of familial ALS, since mutant SOD1 is known to accumulate i

28 ed survival in the SOD1(G93A) mouse model of familial ALS.

29 P) gene alter APP processing, either causing familial Alzheimer's disease (AD) or protecting against

30 al, and occipital neocortices in 40 cases of familial Alzheimer's disease (AD) or sporadic (idiopathi

31 (ASYN) in neurodegenerative disease such as familial Alzheimer's disease (AD), dementia with Lewy bo

32 However, rare forms of familial Alzheimer's disease are associated with mutatio

33 oidosis and improved cognitive function in a familial Alzheimer's disease mouse model.

34 amma-secretase complex frequently mutated in familial Alzheimer's disease, clear from glutamatergic t

35 Close to 9% of melanoma was familial; among these 92% were in 2-case families and 8%

36 sthyretin gene (TTR) in Indian patients with familial amyloid polyneuropathy (FAP) is described.

37 e, transthyretin V30M mutant associated with familial amyloid polyneuropathy, and Abeta42 associated

38 elay neurologic progression of transthyretin familial amyloid polyneuropathy, there are no approved p

39 presentations of the disease: transthyretin familial amyloid polyneuropathy, which primarily affects

40 Among patients with familial amyloidosis, mutation in the transthyretin (TTR

41 tients were studied: (1) transthyretin (TTR) familial amyloidotic polyneuropathy (FAP; n = 20), (2) T

42 Understanding the natural history of familial amyotrophic lateral sclerosis (ALS) caused by S

43 rf72 gene represent the most common cause of familial amyotrophic lateral sclerosis (ALS), but the me

44 the profilin 1 (PFN1) gene are causative for familial amyotrophic lateral sclerosis (fALS).

45 n patients carrying SOD1 mutations linked to familial amyotrophic lateral sclerosis (fALS/SOD1).

46 human homolog ubiquilin 2 is associated with familial amyotrophic lateral sclerosis, also contributes

47 regation inhibitor (designated HTB1M) of two familial amyotrophic lateral sclerosis-linked SOD1 mutan

48 on in attenuating the disease progression of familial amyotrophic lateral sclerosis.

49 Familial analyses of one variant, a synonymous LMNA VUS,

50 ocations as contributing factors to both non-familial and familial NSCLP and altered DNA methylation

51 ed using a scoring system, which encompasses familial and genetic factors, ECG abnormalities, arrhyth

52 s from rare variant burden tests showed that familial and population-based CMM patients tended to hav

53 tra differed significantly among some of the familial and sAD subtypes, and between typical patients

54 ree disease pathways that can differ between familial and sporadic AD and two pathways associated wit

55 Mutations in autophagy genes can cause familial and sporadic amyotrophic lateral sclerosis (ALS

56 esting that our findings may be relevant for familial and sporadic cases.

57 rtant milestone in our understanding of both familial and sporadic forms of disease.

58 utations are associated with the spectrum of familial and sporadic frontotemporal dementia-amyotrophi

59 herefore, mutations in CDH23 are linked with familial and sporadic PA and could play important roles

60 se 2 (LRRK2) gene is associated with risk of familial and sporadic Parkinson's disease (PD).

61 Additionally, familial and sporadic penetrance did not significantly d

62 evised, seven were found to be significantly familial and substantially variable, and hence, were tes

63 Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients

64 s (ALS, motor neurone disease) (sporadic and familial) and Parkinson's Disease (PD).

65 and provide new diverse leads for discordant familial association of melanoma.

66 However, less is known about the possible familial associations of melanoma with other discordant

67 genetic diagnosis was achieved in 57% of all familial ataxias.

68 ceivably help explain past findings relating familial atypical thyroid function and male homosexualit

69 DS AND Ablation reports of all patients with familial AVNRT (at least 2 first-degree family members)

70 define the prevalence and characteristics of familial AVNRT among patients who underwent radiofrequen

71 Patients at ablation were younger in the familial AVNRT group when compared with the sporadic AVN

72 Familial AVNRT prevalence is higher than previously beli

73 This indicates a familial AVNRT prevalence of 127 cases per 10 000 (95% c

74 After inclusion of 4 families with familial AVNRT who underwent ablation at another hospita

75 A1 and BRCA2, explain fewer than half of all familial BC and/or OC cases.

76 ANCM gene were significantly associated with familial BC risk, with an overall odds ratio (OR) of 2.0

77 Familial benign pemphigus, or Hailey-Hailey disease (HHD

78 Rare familial biparental hydatidiform moles (due to NLRP7 or

79 asal ganglia calcifications, such as primary familial brain calcifications, can be associated with ma

80 ic analyses were performed at the Center for Familial Breast and Ovarian Cancer in Cologne, Germany;

81 gham Foundation Consortium for Research into Familial Breast Cancer, with ascertainment through famil

82 The Bri2 protein associated with Familial British and Danish dementias contains a BRICHOS

83 ersations between patients with dementia and familial caregivers.

84 been implicated in disease pathogenesis and familial cases are uncommon.

85 t common gene mutated in monogenic recessive familial cases of Parkinson's disease (PD).

86 n human neurons obtained from idiopathic and familial cases, and suggest novel targets for therapeuti

87 However, these explain less than half of the familial cases.

88 computed tomography (CT) are associated with familial cerebral cavernous malformations (fCCMs) in car

89 atosus, Aicardi-Goutieres syndrome (AGS) and familial chilblain lupus.

90 nic germline duplications of T that underlie familial chordoma.

91 D (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI

92 % of cured patients displayed relapses, with familial clustering in half the cases.

93 t to clarify the patterns of comorbidity and familial clustering of a broad range of ADs in individua

94 Familial clustering of MR exists in the community, suppo

95 These clinical features and the familial clustering of the disease suggest an underlying

96 Prior familial clustering studies have observed an increased r

97 or intermediate-risk CMM genes may influence familial CMM predisposition, warranting further investig

98 ur goal in this study was to investigate the familial coaggregation of epilepsy and ADHD and to estim

99 The familial coaggregation of other psychiatric disorders, i

100 measures of premorbid cognitive ability and familial cognitive aptitude (FCA) reflect risk for a div

101 e substantially increased by also evaluating familial cognitive potential.

102 Using a well-phenotyped familial cohort, we demonstrated that first-degree relat

103 specific MetS severity Z score among 3 large familial cohorts: the JHS (Jackson Heart Study, 1404 bla

104 was identified in a cohort of patients with familial colorectal cancer.

105 Familial combined hypolipidemia, a Mendelian condition c

106 ntiation, providing a mechanism for the SoxC familial compensation observed here and elsewhere in the

107 Although a familial component has been described for a subset of ca

108 ng statistical and methodologic controls for familial confounding.

109 re performed on twins reared apart to assess familial confounding.

110 hts the importance of recessive mutations in familial congenital hydrocephalus and expands the locus

111 1 publications, using sequence data from 863 familial CRC cases and 1604 individuals without CRC (con

112 iated deleterious BRF1 variants with 1.4% of familial CRC cases, in individuals without mutations in

113 Germline variants have also been found in familial cutaneous melanoma pedigrees, but their contrib

114 nd disruption of tTJ proteins contributes to familial deafness.

115 e young (MODY) is the most common subtype of familial diabetes.

116 arch comparing the survival of children with familial dilated cardiomyopathy (FDCM) to that of childr

117 lament-Ca(2)(+) responsiveness in a model of familial dilated cardiomyopathy and improve cardiac func

118 g 59% with idiopathic pathogenesis, 32% with familial disease, and 9% with a syndromic or metabolic d

119 of additional tumors and the possibility of familial disease.

120 id precursor protein (betaAPP) harboring the familial double Swedish mutations (APPswe).

121 ensory and autonomic neuropathy type III, or familial dysautonomia [FD; Online Mendelian Inheritance

122 se data to (i) estimate the heritability and familial environmental patterns of 149 diseases and (ii)

123 Familial eosinophilia (FE) is a rare autosomal dominant

124 e depolarization cause hyperexcitability and familial episodic pain disorder or painful neuropathy, w

125 ith a sporadic etiology, such as in AD, or a familial etiology, such as in some cases of frontotempor

126 Familial exudative vitreoretinopathy (FEVR) is an inheri

127 vitreous hemorrhage and a female infant with familial exudative vitreoretinopathy.

128 l mediators of signalling and are mutated in familial exudative vitreoretinopathy.

129 he association can be confounded with shared familial factors (genetic/environmental).

130 cosibling design allowed for adjustment for familial factors (genetic/environmental).

131 ation between epilepsy and ADHD, with shared familial factors and risk factors unique to the individu

132 ether this association could be explained by familial factors by comparing associations for maternal

133 ia intrauterine mechanisms, or due to shared familial factors.

134 n at age 2 years beyond sociodemographic and familial factors.

135 he G209A (p.A53T) alphaSyn mutation causes a familial form of PD characterized by early onset and a g

136 shift variant, Phe521Leufs, causing a severe familial form of renal amyloidosis.

137 coma/Translocated in Liposarcoma (FUS) cause familial forms of amyotrophic lateral sclerosis (ALS), a

138 netic variation contributing to sporadic and familial forms of CHD has been identified.

139 zygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, wh

140 (GRN) gene accounts for 10% of all cases of familial FTD.

141 rauterine mechanisms, or explained by shared familial (genetic, lifestyle, socioeconomic) characteris

142 ent-onset MDD composed of contributions from familial/genetic and social risk factors, as well as eff

143 All the measured familial/genetic and social risk indicators directly inf

144 Conversely, the interface between familial genotype and abductor phenotype was associated

145 elomeric POT1-TPP1 complex are implicated in familial glioma, melanoma and chronic lymphocytic leukae

146 Familial growth hormone deficiency provides an opportuni

147 These included genes in familial hematopoietic disorders (GATA2, RUNX1), telomer

148 ng depolarization in mice carrying the human familial hemiplegic migraine type 1 R192Q missense mutat

149 s lead to severe human pathologies including Familial Hemiplegic Migraine type 2, Alternating Hemiple

150 e we identify Munc13-4, a protein mutated in familial hemophagocytic lymphohistiocytosis 3, as a WPB-

151 ts carrying mutations in these genes develop familial hemophagocytic lymphohistiocytosis, a primary i

152 mines connectome organization in children at familial high risk for psychosis.

153 esions independently of gender, duration and familial history of HS, body mass index, and location.

154 umab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an open-label

155 Homozygous familial hypercholesterolaemia is a genetic disorder cha

156 reated with darunavir, or who had homozygous familial hypercholesterolaemia or any condition causing

157 ients aged 12 years or older with homozygous familial hypercholesterolaemia who were on stable LDL ch

158 LDL cholesterol in patients with homozygous familial hypercholesterolaemia, with or without apheresi

159 cally apparent xanthomas in 24 patients with familial hypercholesterolemia (FH) (six men, 18 women; m

160 osclerotic cardiovascular disease (ASCVD) in familial hypercholesterolemia (FH) have been described,

161 Familial hypercholesterolemia (FH) is an autosomal domin

162 Familial hypercholesterolemia (FH) is characterized by s

163 This issue was recently addressed in a large familial hypercholesterolemia (FH) screening study, whic

164 dest results in identifying individuals with familial hypercholesterolemia (FH).

165 Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dom

166 atocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to identify d

167 in Children and Adolescents With Homozygous Familial Hypercholesterolemia [HYDRA]; NCT02226198).

168 d either as drugs (e.g., to treat homozygous familial hypercholesterolemia and spinal muscular atroph

169 titution of a 3-year-old boy with homozygous familial hypercholesterolemia and unstable coronary arte

170 plant for definitive treatment of homozygous familial hypercholesterolemia but died of noncardiac com

171 by LPS and hyperlipidemia and patients with familial hypercholesterolemia less frequently develop di

172 ay develop in children because of homozygous familial hypercholesterolemia or other underlying condit

173 ic categories of heterozygous and homozygous familial hypercholesterolemia, based on clinical criteri

174 oB)-ASO is an FDA approved drug for treating familial hypercholesterolemia.

175 In the familial hypercholesterolemic swine model of femoral res

176 al proliferation and healing response in the familial hypercholesterolemic swine model of femoral res

177 r implantation in the femoral arteries of 18 familial hypercholesterolemic swine.

178 ation of with no lysine (WNK) kinases causes familial hyperkalemic hypertension (FHHt).

179 t the Clinic, MTLE had been recognized to be familial in 2 patients only.

180 he entire coding region of the FANCM gene in familial index cases and geographically matched controls

181 D) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Straussler-Sche

182 bances as well as lab tests in Chinese fatal familial insomnia (FFI) subjects.

183 raussler-Scheinker syndrome (GSS), and fatal familial insomnia.

184 mann-Straussler-Scheinker syndrome and fatal familial insomnia.

185 d be considered as an additional progressive familial intrahepatic cholestasis gene.

186 eral biliary diseases, including progressive familial intrahepatic cholestasis type 3 (PFIC3), a rare

187 ng 20 with Alagille syndrome (ALGS), 16 with familial intrahepatic cholestasis-1 (FIC1), 18 with bile

188 p cholestasis characterized by a progressive familial intrahepatic cholestasis-like phenotype with no

189 mutations in five patients with progressive familial intrahepatic cholestasis-like phenotype with no

190 ikely to be largely due to shared genetic or familial lifestyle confounding rather than to intrauteri

191 The results suggest a familial link between ADs in general (that is, not limit

192 Familial Mediterranean fever (FMF) is an IL-1beta-depend

193 e of kidney transplantation in patients with familial Mediterranean fever (FMF) who reach end-stage r

194 re associated with autoinflammatory disorder Familial Mediterranean Fever (FMF).

195 rin-associated periodic syndromes (CAPS) and familial Mediterranean fever, 2 archetypical monogenic a

196 editary motor neuropathy and LMN variants of familial motor neuron disease.

197 The familial MTC type of MEN 2 syndrome was included within

198 This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the mo

199 utaneous manifestations of patients with the familial MTC type of MEN 2A syndrome.

200 netic studies in 11 members of a family with familial MTC.

201 agnosed nonlesional MTLE actually represents familial MTLE (FMTLE).

202 Fifty-three of 58 patients (91%) had familial, multiple, extra-adrenal, and/or malignant tumo

203 While most familial mutations are associated with early-onset AD, r

204 Familial mutations in C99 can increase the total level o

205 These results suggest how familial mutations in the extracellular sequence influen

206 Sporadic and familial mutations in the oligosaccharide-oligonucleotid

207 Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently be

208 enetic testing for the previously identified familial MYOC variant (cascade genetic testing).

209 92 adults with CKD of unknown cause or familial nephropathy or hypertension.

210 ted genes that, thus far, are known to cause familial neurodegenerative diseases even though differen

211 interferon regulatory factor, as a cause of familial NK cell deficiency that results in fatal and se

212 ers, the most salient findings compared with familial noncarriers and population control participants

213 ic and thicker corpora callosa compared with familial noncarriers and population control participants

214 64 unaffected family members (referred to as familial noncarriers; age range, 1-46 years; mean age, 1

215 Four familial NSC kindreds had mutations in genes previously

216 ontributing factors to both non-familial and familial NSCLP and altered DNA methylation may be a seco

217 ypothesize that most idiopathic DCM, whether familial or nonfamilial, has a genetic basis, in which c

218 atients aged 18-80 years with a diagnosis of familial or sporadic ALS were randomly assigned (1:1), c

219 NGPT1) was investigated in all patients with familial or sporadic U-HAE.

220 mic screening in a total of 12 families with familial PA (20 individuals), 125 individuals with spora

221 viduals showed that 33% of the families with familial PA (4/12) and 12% of individuals with sporadic

222 17 asymptomatic members from one family with familial PA, whole-exome sequencing identified cosegrega

223 question, we examined the consequences of a familial PAH-associated frameshift mutation in CAV1, P15

224 ase, ataxia-telangiectasia-mutated) increase Familial Pancreatic Cancer (FPC) susceptibility, and ATM

225 mutation, 31 (3.5%) of which affected known familial pancreatic cancer susceptibility genes: BRCA2 (

226 lterations in alpha-synuclein dosage lead to familial Parkinson's disease (PD), and its accumulation

227 RK2) contribute to development of late-onset familial Parkinson's disease (PD), with clinical feature

228 n successful in identifying genes that cause familial Parkinson's disease (PD).

229 PARKIN, an E3 ligase mutated in familial Parkinson's disease, promotes mitophagy by ubiq

230 ubiquitin ligase Parkin have been linked to familial Parkinson's disease.

231 In familial patients whose BC onset was before age 51 years

232 focus on developing a working definition of familial PCA for clinical genetic testing, expanding und

233 drial calcium uptake in cortical neurons and familial PD patient fibroblasts, accompanied by increase

234 a role of LRRK2, linked to the most frequent familial PD, in regulating synaptic vesicle (SV) traffic

235 C2-alpha-syn monomer, we observed that some familial PD-associated alpha-syn mutations (i.e. H50Q an

236 th site-directed spin labeling, we show that familial PD-associated variants are structurally defecti

237 a-syn (SNCA) gene mutations in rare cases of familial PD.

238 K2 are the major cause of autosomal-dominant familial PD.

239 are the most commonly linked contributor to familial PD.

240 ns derived from patients with idiopathic and familial PD.

241 vidual amino acids and that only a subset of familial-PD mutations causes fibril accumulation through

242 e functioning to fall substantially short of familial potential.

243 In familial pulmonary arterial hypertension (FPAH), the aut

244 omere-related genes previously implicated in familial pulmonary fibrosis-as significant contributors

245 genes have been linked to autosomal-dominant familial pulmonary fibrosis.

246 el variant in FLNC as pathogenic variant for familial RCM-a finding that further expands on the genet

247 Mutations in PARK7 are a rare cause of familial recessive Parkinson's disease (PD), but growing

248 Models accounted for familial relatedness and were adjusted for age, sex, tot

249 The most common familial relationship in our 24 families included a pare

250 Irrespective of familial relationship, adults who resided with another a

251 Like its familial relatives, Set1A possesses a catalytic SET doma

252 , we studied a cohort of 60 individuals with familial renal glucosuria.

253 ly developing infants, either at High or Low familial Risk (HR or LR, respectively) for developing Au

254 investigate telomere length in connection to familial risk and disease expression in bipolar disorder

255 -onset MDD (incident cases) in those at high familial risk and to postulate a theoretically informed

256 f female individuals with ADHD are at higher familial risk for ADHD than the siblings of affected mal

257 in a cohort of 24-month-olds at high and low familial risk for ASD reduced this confound; we reported

258 shortened telomere length is associated with familial risk for BD.

259 or assessing the probability that a youth at familial risk for BPSD will develop new-onset BPSD withi

260 predict the 5-year onset of BPSD in youth at familial risk for BPSD.

261 youths, reflecting a connectome signature of familial risk for psychotic illness.

262 ve neuroimaging study of 106 infants at high familial risk of ASD and 42 low-risk infants, we show th

263 ive brain-imaging studies of infants at high familial risk of ASD might identify early postnatal chan

264 Studies of infants at high familial risk of autism can provide insight into the ear

265 affected with bipolar disorder (BP), at high familial risk of BP, and at low risk to identify endophe

266 family cancer cohort studies, 2 enriched for familial risk of breast cancer.

267 order (MDD) is common in individuals at high familial risk of depression and is associated with poor

268 25 variants explain approximately 16% of the familial risk of this breast cancer subtype.

269 ling, stratified by sex and age, to estimate familial risk of tooth loss as well as estimates of heri

270 ntified to date explain 37% of father-to-son familial risk, 8% of which can be attributed to the 12 n

271 nset adolescent depression in individuals at familial risk.

272 ociations were replicated in a South African familial sample.

273 s mostly developing in brain and kidney, and familial schwannomatosis, with adulthood benign tumors i

274 Even without autopsy, familial screening after sudden death in young patients

275 METHODS AND Familial screening of at-risk relatives identified mutat

276 cluding initiation of targeted surveillance, familial screening to guide donor selection for transpla

277 Based on the familial segregation and the reported functional studies

278 ion frequencies, bioinformatic criteria, and familial segregation, we identified 20 FLNC candidate va

279 Therefore, our cases of familial SHP are unusual and may suggest that the clinic

280 To date, only a few genes for familial sinus and atrioventricular conduction dysfuncti

281 One such disorder, familial sinus bradycardia, is caused by the S672R mutat

282 A GNB2 gene mutation is associated with familial SND+AVB and leads to a sustained activation of

283 rize the mutation-related pathomechanisms in familial SND+AVB.

284 Taking into account the familial structure of the Autism Genetic Resource Exchan

285 Familial studies support a genetic contribution to progn

286 tion was performed in seven sporadic and six familial subjects.

287 athy (DCM) is unknown by definition, but its familial subtype is considered to have a genetic compone

288 eat isoforms in brains of Pick's disease and familial tauopathy due to G272V tau mutation were sensit

289 nuclear palsy, corticobasal degeneration and familial tauopathy due to N279K tau mutation and 3-repea

290 The most common genetic alterations for familial thoracic aortic aneurysms and dissections (TAAD

291 ved understanding of the genetic etiology of familial tooth agenesis.

292 EE is a familial trait (heritability = 0.52); therefore, in the

293 nservation of sequence will occur during non-familial transmission events.

294 ed their genetic background, indicating that familial transmission was the main force regulating gut

295 his indicated the influence of immunity over familial transmission.

296 ly members or an additional 20 patients with familial U-HAE, 22 patients with sporadic U-HAE, and 200

297 y genetic testing (either multigene panel or familial variant test) were recruited into the MedSeq Pr

298 Several familial variants of alphaS are correlated with inherite

299 e critical for high-risk cohorts such as the familial VHL disease patients.

300 Primary VUR is familial, with transmission rate and sibling risk both a