ライフサイエンスコーパス: monogenic

1 js-Aalfs syndrome (RJALS) patient cells with monogenic and biallelic mutations in SPRTN are hypersens

2 erlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD.

3 underlying not only diseases, but also other monogenic and complex phenotypes.

4 PMS is a relatively common monogenic and highly penetrant cause of autism spectrum

5 The monogenic and monoallelic expression of only one out of

6 help to elucidate the mechanisms underlying monogenic and monoallelic expression of OR genes.

7 insight into the mechanisms underlying this monogenic and monoallelic expression, we examined the 3D

8 While monogenic and monoallelic OR expression has been appreci

9 We confirm genetic overlap between human monogenic and polygenic anthropometric traits and find s

10 The relationship between monogenic and polygenic forms of epilepsy is poorly unde

11 ents with sarcoma have putatively pathogenic monogenic and polygenic variation in known and novel can

12 ease networks and pathological mechanisms of monogenic as opposed to complex retinopathies, using AMD

13 We also introduce GeneVetter, a web tool for monogenic assessment of rare disease.

14 l requirement of Shank3 in mice, a prominent monogenic autism gene that is estimated to contribute to

15 support the link between Homer proteins and monogenic autism, and lay the groundwork for the use of

16 Mutations in AIRE cause a monogenic autoimmune disease called autoimmune polyendoc

17 ndidiasis-ectodermal dystrophy (APECED) is a monogenic autoimmune disease caused by mutations in the

18 These monogenic autoimmune diseases show highly variable pheno

19 aad and colleagues characterized a seemingly monogenic autoimmune disorder in a family that was linke

20 Diagnosing monogenic autoimmunity is crucial for patients' prognosi

21 n and consistent with growing discoveries of monogenic autoimmunity, Oftedal et al. discovered hetero

22 c predisposition, but rare cases result from monogenic autoimmunity.

23 from genome instability in a mouse model of monogenic autoinflammation, after exogenous DNA damage a

24 tion-associated alterations in patients with monogenic autoinflammatory disease and opens up possibil

25 allelic inflammasome defect that expands the monogenic autoinflammatory disease spectrum to include M

26 Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide.

27 Here we review these monogenic autoinflammatory diseases, ranging from period

28 wn to be central to the pathogenesis of many monogenic autoinflammatory diseases.

29 Monogenic autoinflammatory syndromes present with excess

30 familial Mediterranean fever, 2 archetypical monogenic autoinflammatory syndromes.

31 resulting from gene mutations is related to monogenic autoinflammatory syndromes.

32 iew considers Bardet-Biedl syndrome (BBS), a monogenic autosomal recessive nonmotile ciliopathy, as a

33 Wilson disease (WD) is a monogenic autosomal-recessive disorder of copper accumul

34 ene silencing is a promising therapy for the monogenic, autosomal dominant, Huntington's disease (HD)

35 ophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder caused by the lack of func

36 However, hundreds of different monogenic CAKUT genes probably exist.

37 se findings suggest that PBX1 is involved in monogenic CAKUT in humans and call into question the rol

38 The percentage of monogenic cases was notably high in both the adult (11.4

39 A monogenic cause can be detected in around 12% of patient

40 Establishing NF1 as a monogenic cause for ASD has important implications for a

41 athophysiology of RTT and fragile X, another monogenic cause of autism and intellectual disability.

42 Fragile X syndrome (FXS) is the leading monogenic cause of autism spectrum disorders (ASD).

43 oding gene has been strongly implicated as a monogenic cause of autism, and Shank3 mutant mice show r

44 Fragile X syndrome, the most common known monogenic cause of autism, results from the loss of FMR1

45 We report a new monogenic cause of autoimmunity resulting from de novo g

46 ous CTLA-4 deficiency has been reported as a monogenic cause of common variable immune deficiency wit

47 EMA may be an effective way of elucidating a monogenic cause of death and bringing clarity to otherwi

48 We sought to identify a unique monogenic cause of familial immunodeficiency and evaluat

49 essive neuromuscular disease, is the leading monogenic cause of infant mortality.

50 ulin variants in the pancreatic beta-cell, a monogenic cause of permanent neonatal-onset diabetes mel

51 ct on B-cell differentiation and is likely a monogenic cause of the family's CVID phenotype.

52 ue convergence of factors, including a known monogenic cause, reversibility of symptoms in preclinica

53 mong which fragile X syndrome is the primary monogenic cause.

54 >10 mmol/L), which is more likely to have a monogenic cause; and mild-to-moderate (triglyceride conc

55 elevated LDL-C levels was a polygenic, not a monogenic, cause of the disease.

56 Few monogenic causes for severe manifestations of common all

57 Although dozens of monogenic causes have been identified, the fraction of s

58 symptomatic primary antibody disorder, with monogenic causes identified in less than 10% of all case

59 Monogenic causes of AF typically promote the arrhythmia

60 ency for SHANK3 is one of the most prevalent monogenic causes of autism spectrum disorder, making it

61 Monogenic causes of autoimmunity provide key insights in

62 Monogenic causes of CAKUT in humans and mice have been i

63 However, rare monogenic causes of CVID might lack such a genetic finge

64 Several monogenic causes of familial myelodysplastic syndrome (M

65 We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS

66 It is one of the leading monogenic causes of intellectual disability among boys w

67 Our study provides an in-depth analysis of monogenic causes of kidney stone disease.

68 ny genetic mutations have been identified as monogenic causes of nephrotic syndrome (NS), but importa

69 t, we screened Drosophila orthologs of human monogenic causes of nephrotic syndrome and observed cons

70 ntellectual disability and identification of monogenic causes of obesity in humans have made immense

71 ty to Parkinson's disease, only a handful of monogenic causes of parkinsonism have been identified.

72 The detection of monogenic causes of renal stone disease has been made mo

73 ssential for life, recent data indicate that monogenic causes of ribosomal dysfunction can confer a r

74 ncoding exportin 5) as hitherto unrecognized monogenic causes of SRNS.

75 has also facilitated the discovery of novel monogenic causes of stone disease.

76 the duplication of the 15q11-13 region, and monogenic causes, as in Rett and fragile-X syndromes.

77 nts with nephrotic syndrome (NS) to diagnose monogenic causes, reliably distinguishing NS-causing var

78 rrhythmogenic mechanisms, even in inherited, monogenic channelopathies.

79 Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute

80 dentified factors contributing to inaccurate monogenic classification of NS and developed a more accu

81 of complete remission did not associate with monogenic classification.

82 at a proportion of NSCLP cases arise through monogenic coding mutations, though further work is requi

83 The monogenic component of the genetic theory provides a pla

84 Several of these monogenic conditions do not respond to conventional ther

85 Singleton WES in children with suspected monogenic conditions has high diagnostic yield, and cost

86 n five families were explained by coexisting monogenic conditions.

87 e changes in human NR genes associated with "monogenic" conditions, including a discussion of the str

88 Despite extensive efforts to understand the monogenic contributions to perturbed glucose homeostasis

89 We show that unravelling monogenic cornea disorders like XMC-with presumably dist

90 The TREX1 D18N mutation causes a monogenic, cutaneous form of lupus called familial chilb

91 Monogenic de novo variants in ExAC had a total allele co

92 Given the immune phenotype of monogenic defects affecting Ca(2+) and NF-kappaB signali

93 requires careful and thorough evaluation for monogenic defects and primary immunodeficiencies.

94 prominent role in this young population, and monogenic defects in genes related to primary immunodefi

95 Discoveries of monogenic defects that lead to activation of proinflamma

96 hysiologic pathways and clinical features of monogenic defects that result in autoimmune disease.

97 he molecular revolution, the number of known monogenic determinants underlying the epileptic encephal

98 ariants provides a novel way to discriminate monogenic diabetes from T1D.

99 e use of biomarkers in the discrimination of monogenic diabetes from T1D.

100 Distinguishing patients with monogenic diabetes from those with type 1 diabetes (T1D)

101 Although Anxa4 is a known target of several monogenic diabetes genes and its elevated expression is

102 diabetes those who carry mutations in known monogenic diabetes genes is the first step to then allow

103 Targeted next-generation sequencing of 27 monogenic diabetes genes was carried out in 55 family pr

104 abetes of adulthood carry mutations in known monogenic diabetes genes.

105 Finding new causes of monogenic diabetes helps understand glycaemic regulation

106 ene associated with both type 2 diabetes and monogenic diabetes of the young, regulates mitophagy in

107 MODY1 is a maturity-onset monogenic diabetes, caused by heterozygous mutations of

108 a strong enrichment for genes implicated in monogenic diabetes.

109 GeneVetter helps quantify uncertainty in monogenic diagnosis and design genetic studies with supp

110 uelae leading to heart failure in the Python monogenic dilated cardiomyopathy model.

111 1 (Drp1) underlies the Python mouse model of monogenic dilated cardiomyopathy.

112 The protein-coding exome of a patient with a monogenic disease contains about 20,000 variants, only o

113 s that encode chromatin regulators can cause monogenic disease or are incriminated in polygenic, mult

114 genome, many of which may be associated with monogenic disease or complex traits.

115 d function, presenting the first evidence of monogenic disease related to transport of DHA in humans.

116 milial hyperkalemic hypertension (FHHt) is a monogenic disease resulting from mutations in genes enco

117 WGS report (FH + WGS group), which included monogenic disease risk (MDR) results (associated with Me

118 PNH has been considered a monogenic disease that results from somatic mutations in

119 and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-relat

120 Although PMD is a rare monogenic disease, hundreds of mutations in the X-linked

121 Huntington disease (HD), a prototypic monogenic disease, is caused by an expanded CAG repeat i

122 ed and a further 52 genes are known to cause monogenic disease, often presenting in infancy.

123 None of the above monogenic disease-causing genes were suspected on clinic

124 stency for variants in genes associated with monogenic disease.

125 to noninvasive prenatal diagnosis (NIPD) of monogenic disease.

126 esting complex inheritance can masquerade as monogenic disease.

127 Several acute monogenic diseases affect multiple body systems, causing

128 of pericytes in CNS disorders including rare monogenic diseases and complex neurological disorders su

129 eron response, the identification of further monogenic diseases belonging to this disease grouping se

130 editing is being developed to treat not only monogenic diseases but also infectious diseases and dise

131 Studies of monogenic diseases can provide insight into the pathogen

132 Thousands of monogenic diseases have yielded definitive genomic diagn

133 , filters for putative causative variants of monogenic diseases inherited in one of three forms: domi

134 genetic markers, with CAPS being a family of monogenic diseases with mutations in NLRP3.

135 and sickle-cell disease, are the most common monogenic diseases worldwide.

136 One of the most frequent monogenic diseases, NF1 has subsequently been characteri

137 Like many monogenic diseases, the correlation between clinical man

138 Besides functional correction of different monogenic diseases, the possibility to drive efficient a

139 ngly their therapeutic efficacy for treating monogenic diseases.

140 cluding cancer, cardiovascular diseases, and monogenic diseases.

141 be broadly applicable to correction of other monogenic diseases.

142 pears to be clinically effective for several monogenic diseases.

143 plication of stem cell-based gene therapy to monogenic diseases.

144 sing the examples of six recently identified monogenic diseases: EPG5-related Vici syndrome, beta-pro

145 rrently being pursued as a treatment for the monogenic disorder alpha-1-antitrypsin (AAT) deficiency.

146 uencing-naive children suspected of having a monogenic disorder and evaluate its cost-effectiveness i

147 Using mouse models of RTT, a monogenic disorder caused by mutations in MECP2, we foun

148 Duchenne muscular dystrophy (DMD), a lethal monogenic disorder caused by the loss of the large cytos

149 tem cells that has largely been considered a monogenic disorder due to acquisition of mutations in th

150 ne polyendocrine syndrome type 1 (APS1) is a monogenic disorder that features multiple autoimmune dis

151 ty should be aware of the potential for this monogenic disorder to help elucidate the biological feat

152 ren older than 2 years suspected of having a monogenic disorder were prospectively recruited from May

153 enne muscular dystrophy (DMD) is a classical monogenic disorder, a model disease for genomic studies

154 As a prevalent and severe monogenic disorder, SCD has been long considered a logic

155 fect responsible for cystic fibrosis (CF), a monogenic disorder.

156 ften-diverse phenotypes of an extremely rare monogenic disorder.

157 tosus, rheumatoid arthritis, and devastating monogenic disorders (interferonopathies) characterized b

158 ting mutations responsible for DMD and other monogenic disorders after birth.

159 rchive of 684 genes discovered in studies of monogenic disorders and identifying molecular annotation

160 uch as pathogenic variants leading mostly to monogenic disorders and pharmacogenomics biomarkers.

161 niques have led to the identification of new monogenic disorders and their corresponding signaling pa

162 Monogenic disorders are caused by rare genetic variation

163 Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to sp

164 ion of critically ill infants with suspected monogenic disorders in the neonatal and pediatric intens

165 ecular basis of the incomplete penetrance of monogenic disorders is unclear.

166 utations in AKT2 are an established cause of monogenic disorders of glucose metabolism.

167 f this approach, the genetic causes for many monogenic disorders remain unknown or only partially kno

168 They are monogenic disorders that occur at a collective frequency

169 tem, hold clinical potential for curing many monogenic disorders, including neuromuscular diseases su

170 Many monogenic disorders, including the muscular dystrophies,

171 potential applications, from diagnostics of monogenic disorders, to prevention and management strate

172 ctures, a common disease model for recessive monogenic disorders, where two different alleles can hav

173 of the drivers of autoimmunity in supposedly monogenic disorders.

174 se of SVM to identify patients with possible monogenic disorders.

175 isease (ADPKD), one of the most common human monogenic disorders.

176 effect on power due to the low prevalence of monogenic disorders.

177 in gene-based burden tests in the context of monogenic disorders.

178 oaches for discovering genes associated with monogenic disorders.

179 d-resistant nephrotic syndrome (SRNS) due to monogenic disorders.

180 temporal lobe epilepsy, and a mouse model of monogenic Dravet (SCN1A) disease.

181 encing as a discovery technique in suspected monogenic dyslipidemias.

182 n attempt to identify novel genes underlying monogenic dyslipidemias.

183 Monogenic epilepsies with wide-ranging clinical severity

184 ovo mutations ascertained from patients with monogenic epilepsy and for common variants associated wi

185 srupted by deleterious de novo mutations for monogenic epilepsy, in line with the centrality-lethalit

186 velop from hematopoietic stem cells, and few monogenic errors that specifically interrupt NK cell dev

187 We report that up to 49 of the 232 monogenic etiologies (21%) of human primary immunodefici

188 identified those most likely to have a novel monogenic etiology by highlighting patients with probabl

189 d mitochondrial defects of flight muscles in monogenic flies expressing the G2019S alone.

190 city is deregulated in Fragile X Syndrome, a monogenic form of autism in humans, and understanding th

191 c plasticity that is compromised in a severe monogenic form of autism, Fragile X Syndrome.

192 rity-onset diabetes of the young (MODY) is a monogenic form of diabetes and pancreatic exocrine dysfu

193 ons causing X-linked retinoschisis (XLRS), a monogenic form of macular degeneration.

194 The average age of onset of the monogenic forms of autoimmune endocrine disease is young

195 genic variants in 55 patients with suspected monogenic forms of cardiovascular disease.

196 novel therapeutic options for NDM and other monogenic forms of diabetes.

197 st effective strategy to screen subjects for monogenic forms of disease.

198 od pressure regulation arose from studies of monogenic forms of hypertension and hypotension, which i

199 that present with extreme phenotypes due to monogenic forms of IBD, genomics has progressed from 'or

200 e-activating protein (SynGAP), two prevalent monogenic forms of ID.

201 ophages and a validation using genes causing monogenic forms of inflammatory bowel disease as a refer

202 chanisms underlying the pathogenesis of most monogenic forms of NS, and to efficiently generate perso

203 s-of-function mutations of Parkin cause some monogenic forms of Parkinson's disease, possibly through

204 within 1 year after onset of motor symptoms, monogenic forms of PD, comorbidities that affect autonom

205 encing to diagnose affected individuals with monogenic forms of rare diseases, accurate attribution o

206 d and appreciate the more recently described monogenic forms of resistance or predisposition to speci

207 ikewise simplified by studies of less common monogenic forms.

208 Studies of monogenic gastrointestinal diseases have revealed molecu

209 To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, exp

210 A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of

211 y recessive or dominant mutations in single (monogenic) genes.

212 o investigate Alport syndrome, the commonest monogenic glomerular disease, and compared findings to o

213 d variants overlap genes that are mutated in monogenic growth disorders and highlight new biological

214 Sickle Cell Disease is the commonest monogenic haemoglobinopathy worldwide.

215 generally, we observed that genes that cause monogenic haploinsufficient diseases were substantially

216 pain (CIP) or congenital analgesia is a rare monogenic hereditary condition.

217 VAAST maintains high power across studies of monogenic, high-penetrance phenotypes in a single pedigr

218 n > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream tar

219 Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-ef

220 can present with inflammatory bowel disease (monogenic IBD).

221 autoimmune diseases, such as lupus, and rare monogenic IFNopathies, including Aicardi-Goutieres syndr

222 poietic stem cells (HSCs) from patients with monogenic immune disorders have not been reported.

223 lar helper T-cell differentiation in defined monogenic immunodeficiencies, we sought to determine the

224 his are being provided by the study of human monogenic immunological diseases.

225 ins the importance of the recently described monogenic inborn errors of immunity underlying resistanc

226 s and the genetic diagnosis of patients with monogenic inborn errors of immunity.

227 Aicardi-Goutieres syndrome (AGS) is a monogenic inflammatory encephalopathy caused by mutation

228 ribes a new case of SAVI, a recently defined monogenic inflammatory phenotype, that exemplifies an em

229 ent exists for Huntington's disease, but its monogenic inheritance makes it an appealing candidate fo

230 thy donors, viral infection, and complex and monogenic interferonopathies.

231 tion studies of eight nondisease outcomes of monogenic IR to group these variants.

232 Although HD is monogenic, its molecular manifestation appears highly co

233 mplicated in human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have been desc

234 ce has facilitated the mapping of a dominant monogenic locus, Prs, conferring Papaya ring-spot virus

235 mice has been demonstrated in some models of monogenic loss-of-function neurological disorders, inclu

236 amilial hemiplegic migraine type 1 (FHM1), a monogenic migraine subtype, is caused by gain-of-functio

237 sizes were identified in patients with rare monogenic migraine syndromes, in which hemiplegic migrai

238 Transgenic mouse models with human monogenic-migraine-syndrome gene mutations showed migrai

239 Study of monogenic mitochondrial cardiomyopathies may yield insig

240 y which islet function can be recovered in a monogenic model of diabetes.

241 Aicardi-Goutieres syndrome (AGS) provides a monogenic model of nucleic acid-mediated inflammation re

242 , impaired MSI was common across three other monogenic models (GAD65, Shank3, and Mecp2 knockout mice

243 Monogenic models may have inadvertently masked the true

244 KEY POINTS: In two monogenic models of absence epilepsy, interictal beta/ga

245 ular atrophy type 1 (SMA1) is a progressive, monogenic motor neuron disease with an onset during infa

246 Previous work in monogenic mouse models of absence epilepsy have shown th

247 mutations and lack the clinical features of monogenic musculoskeletal collagenopathies.

248 We conclude that monogenic mutations abrogating the expression of a prote

249 ce, but also 'Experiments of Nature' whereby monogenic mutations cause primary immunodeficient condit

250 elian autoimmunity syndromes can result from monogenic mutations disrupting essential mechanisms of c

251 % of SRNS cases evaluated were the result of monogenic mutations in 1 of 27 different genes.

252 ed by the systematic analysis of humans with monogenic mutations that cause primary immunodeficiencie

253 of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic an

254 Monogenic NDM was confirmed in 90, 59, and 8% of patient

255 une features compared with those with proven monogenic NDM.

256 vations raise questions on protein spread in monogenic neurodegenerative disorders of the central ner

257 ins, members of which are mutated in several monogenic neurodevelopmental disorders, was significantl

258 The study of monogenic, neurodevelopmental disorders with a high inci

259 s of glutamatergic neurotransmission in this monogenic neurological disease of childhood.

260 breakdown with the pathogenesis of inherited monogenic neurological disorders and complex multifactor

261 of disease-causing mutations responsible for monogenic neuromuscular diseases by genome editing.

262 cy of genome-editing-meditated correction of monogenic neuromuscular diseases in cultured cells and a

263 To date, more than 780 monogenic neuromuscular diseases, linked to 417 differen

264 s they relate to the potential correction of monogenic neuromuscular diseases; and to highlight scien

265 enetic variation, we sequenced 21 implicated monogenic NS genes in 312 participants from the Nephroti

266 To determine the prevalence of monogenic NS in a North American case cohort while accou

267 The prevalence and clinical correlates of monogenic NS in this sporadically affected cohort differ

268 stringent filter to patients, prevalence of monogenic NS was 2.9%; of these patients, 67% were pedia

269 Lack of satiety characterizes many monogenic obesity disorders, and lower satiety responsiv

270 This work demonstrates that monogenic or digenic POLR3A and POLR3C deficiencies conf

271 Proteome modifications downstream of monogenic or polygenic disorders have the potential to u

272 e to be detected between genes implicated in monogenic or syndromic diabetes and genes lying within g

273 ound to be over-represented among both known monogenic or syndromic diabetes genes and genes within T

274 ree mitochondria-related genes implicated in monogenic PD (pdr-1/PRKN, pink-1/PINK1 and djr-1.1/DJ-1)

275 These monogenic phenotypes include classic Aicardi-Goutieres s

276 ome sequencing (WES) to detect an underlying monogenic primary immunodeficiency and potentially targe

277 es, but BACH2 mutations that cause Mendelian monogenic primary immunodeficiency have not previously b

278 In contrast, in monogenic primary lipodystrophy-a reduction in subcutane

279 PARK2 is the most common gene mutated in monogenic recessive familial cases of Parkinson's diseas

280 Root hairs of the monogenic recessive maize mutant roothairless 6 (rth6) a

281 Here we report that natural, monogenic recessive resistance to the Potyvirus Turnip m

282 loss-of-function DNAJC3 mutations lead to a monogenic, recessive form of diabetes mellitus in humans

283 The monogenic shell thickness is inversely correlated to mes

284 This monogenic situation is compensated by the differential e

285 le of aberrant EGFR signaling in a subset of monogenic skin and epithelial syndromes.

286 al hemiplegic migraine type 1 (FHM1), a rare monogenic subtype of common migraine with aura.

287 ctrum of autism disorders, some of which are monogenic such as Timothy syndrome (TS); others are mult

288 Although NF1 is a classic monogenic syndrome, the clinical features of the disorde

289 om the endoplasmic reticulum in several rare monogenic syndromes highly comorbid with autism - fragil

290 signal transduction (PEX14, TGFA, SYT1), or monogenic syndromes with involvement of psychomotor impa

291 ed phenotype, distinguished from the largely monogenic, syndromic forms which include clefts among a

292 tions in another gene on the severity of the monogenic trait pathology is also suggested.

293 segregation is extremely important, even for monogenic traits such as shell thickness in oil palm.

294 We mapped several monogenic traits to narrow intervals overlapping with kn

295 tances of cross-species genetic modifiers of monogenic traits.

296 es mellitus, and dermatomyositis, as well as monogenic type I interferonopathies.

297 ith genetic and molecular pathophysiology of monogenic, type 1, and type 2 (T2D) diabetes.

298 uch as Behcet disease, can be caused by rare monogenic variants in genes of the NF-kappaB pathway.

299 We identified monogenic variants in single case reports and smaller st

300 Of the monogenic variants, 11% (23/211) were present in ExAC, w