ライフサイエンスコーパス: congenital disorder

1 esting a loss-of-function mechanism for this congenital disorder.

2 immunodeficiency is a rare, invariably fatal congenital disorder.

3 del for non-syndromic cleft palate, a common congenital disorder.

4 -specific granule deficiency (SGD) is a rare congenital disorder.

5 specific granule deficiency (SGD) is a rare congenital disorder.

6 ain-of-function effect and cause a Mendelian congenital disorder.

7 meiosis, a leading cause of infertility and congenital disorders.

8 ical consequences of ACTC mutations in human congenital disorders.

9 y and results in the development of distinct congenital disorders.

10 individuals, as well as in individuals with congenital disorders.

11 dentified in a steadily increasing number of congenital disorders.

12 enotypes seen in Holoprosencephaly and other congenital disorders.

13 ene or genes present on chromosome 14 causes congenital disorders.

14 our understanding of genes underlying human congenital disorders.

15 have been performed for malignancies and for congenital disorders.

16 ually rare but collectively common pediatric congenital disorders.

17 s chromothripsis that is found in cancer and congenital disorders.

18 cation and disease, for example in cancer or congenital disorders.

19 fies the generation of new animal models for congenital disorders.

20 medications, inflammation, splenectomy, and congenital disorders.

21 samples for potential methylation associated congenital disorders.

22 utations in other conditions, including many congenital disorders.

23 uman conceptions, causing pregnancy loss and congenital disorders.

24 geal phenotypes in zebrafish models of human congenital disorders.

25 o its global transmission and link to severe congenital disorders.

26 nd genetic resources to advance the study of congenital disorders.

27 which correctly predicted the cause of many congenital disorders.

28 edding light on the etiology of CHD7-related congenital disorders.

29 tegy for understanding mechanisms underlying congenital disorders.

30 with a loss-of-function mechanism for these congenital disorders.

31 ed tremendous insight into gene function and congenital disorders.

32 eggs, a major cause of pregnancy failure and congenital disorders.

33 oglycoproteins consistent with related human congenital disorders.

34 gical interventions for this group of severe congenital disorders.

35 iRNA genes are associated with several human congenital disorders(1-5), but neomorphic (gain-of-new-f

36 The congenital disorder 22q11.2 deletion syndrome (22qDS), c

37 functionally defective, as occurs in certain congenital disorders, affected individuals develop sever

38 art disease is the most frequently occurring congenital disorder affecting approximately 0.8% of live

39 Costello syndrome is a rare congenital disorder affecting multiple organ systems, en

40 oculo-facio-cardio-dental (OFCD) syndrome, a congenital disorder affecting visual system development,

41 This review will provide an update on congenital disorders affecting neutrophil function in wh

42 n the health of offspring, which may lead to congenital disorders and cancer in humans.

43 ivotal role during normal development and in congenital disorders and cancer.

44 lopment and is deregulated in numerous human congenital disorders and cancers.

45 or humans.Zika virus infection can result in congenital disorders and cause disease in adults, and th

46 iated with an increased risk for spontaneous congenital disorders and common complex diseases (such a

47 gnaling is a major causative factor in human congenital disorders and in a variety of cancers.

48 ncestry biobank, identifying enrichments for congenital disorders and major depressive disorder as we

49 ental changes in histone methylation status, congenital disorders and MR.

50 ns member states to strengthen prevention of congenital disorders and the improvement of care of thos

51 bility associated with potentially avoidable congenital disorders and their consequences for the chil

52 Aberrant Fgf signaling causes many congenital disorders and underlies multiple forms of can

53 , is a frequent phenomenon that is linked to congenital disorders and various cancers.

54 efects in Notch signaling that contribute to congenital disorders and viral infection, we discuss the

55 ins are often key effectors for oncogenesis, congenital disorders, and microbial pathogenesis, robust

56 , the underlying mechanisms that drive these congenital disorders are unknown.

57 nfants, including those born at term without congenital disorders, are at high risk of severe disease

58 The Hirschsprung disease (HSCR) is a complex congenital disorder, arising from abnormalities in enter

59 gnment of pulmonary veins (ACDMPV), a severe congenital disorder associated with mutations in the FOX

60 ne mutations cause Costello syndrome (CS), a congenital disorder associated with predisposition to ma

61 Centronuclear myopathies (CNM) are congenital disorders associated with muscle weakness and

62 observed in patients with an extremely rare congenital disorder called neutrophil-specific secondary

63 motility can lead to male infertility and a congenital disorder called primary ciliary dyskinesia (P

64 ed a new mutational phenomenon in cancer and congenital disorders called chromothripsis.

65 Several distinct congenital disorders can lead to tissue-iron overload wi

66 Three congenital disorders, cat-eye syndrome (CES), der(22) sy

67 Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the

68 X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by deficiency of the lipid ph

69 are also hypomethylated in Sotos syndrome, a congenital disorder caused by germline NSD1 mutations.

70 branchiooculofacial syndrome (BOFS), a rare congenital disorder caused by heterozygous mutations wit

71 inked myotubular myopathy (XLMTM) is a fatal congenital disorder caused by mutations in the MTM1 gene

72 Down syndrome (DS) is a congenital disorder caused by trisomy 21 (T21).

73 Ribosomopathies are congenital disorders caused by mutations in ribosomal pr

74 ment of pulmonary veins (ACDMPV) is a lethal congenital disorder causing respiratory failure and pulm

75 sociated with Hirschsprung disease (HSCR), a congenital disorder characterised by incomplete innervat

76 Hirschsprung's disease (HD) is a congenital disorder characterized by absence of intrinsi

77 Complete DiGeorge syndrome is a fatal congenital disorder characterized by athymia, hypoparath

78 extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, r

79 ubunits cause Coffin-Siris syndrome (CSS), a congenital disorder characterized by coarse craniofacial

80 Specific granule deficiency (SGD) is a rare congenital disorder characterized by complete absence of

81 e (OCRL or Lowe syndrome), a severe X-linked congenital disorder characterized by congenital cataract

82 mosaic variegated aneuploidy (MVA), a human congenital disorder characterized by extensive abnormali

83 X-linked myotubular myopathy, a severe congenital disorder characterized by hypotonia and gener

84 Kallmann syndrome (KS) is a congenital disorder characterized by idiopathic hypogona

85 stinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth musc

86 Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shor

87 oonan syndrome (NS) is an autosomal dominant congenital disorder characterized by multiple birth defe

88 DiGeorge syndrome is a common congenital disorder characterized by neural-crest-relate

89 hronic granulomatous disease (CGD) is a rare congenital disorder characterized by repeated bacterial

90 ns, ROR2 mutations cause Robinow syndrome, a congenital disorder characterized by skeletal abnormalit

91 Nanophthalmos is a congenital disorder characterized by small eyes, with th

92 Autosomal recessive osteopetrosis is a rare congenital disorder characterized by the development of

93 combined immunodeficiency (SCID) represents congenital disorders characterized by a deficiency of T

94 al syndrome (VCFS) and DiGeorge syndrome are congenital disorders characterized by craniofacial anoma

95 Pontocerebellar hypoplasias (PCHs) are congenital disorders characterized by hypoplasia or earl

96 (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of t

97 Centronuclear myopathies (CNM) are rare congenital disorders characterized by muscle weakness an

98 are implicated in a majority of cases of the congenital disorder, CHARGE syndrome.

99 microcephaly, developmental delays, or other congenital disorders collectively known as congenital Zi

100 Hirschsprung disease (HSCR) is a human congenital disorder, defined by the absence of ganglia f

101 anial surgery for complications related to a congenital disorder developed an acute intracranial hemo

102 que platform for studying human development, congenital disorders, drug development and therapeutic t

103 Cornelia de Lange syndrome (CdLS) is a congenital disorder featuring facial dysmorphism, postna

104 rove broadly relevant to understanding other congenital disorders featuring high locus heterogeneity.

105 n of the BMP type I receptor ACVR1 cause the congenital disorder fibrodysplasia ossificans progressiv

106 or WT and four FGFR3 mutants associated with congenital disorders (G380R, Y373C, K650Q, and K650E).

107 Several of these congenital disorders have been associated with either in

108 man SOX genes have been associated with rare congenital disorders, henceforward called SOXopathies.

109 Hirschsprung disease (HD) is a congenital disorder in the distal colon that is characte

110 dy) is the major cause of pregnancy loss and congenital disorders in humans.

111 angements (CGRs) in many cancers and various congenital disorders in humans.

112 l Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense vari

113 sent genes have been associated with several congenital disorders including the multi-organ disease b

114 Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects

115 ents with atopic dermatitis (AD) and AD-like congenital disorders, including peeling skin syndrome ty

116 zed by the association of TBX4 variants with congenital disorders involving respiratory and skeletal

117 sible strategy for the prenatal treatment of congenital disorders is in utero delivery of messenger R

118 Detection and diagnosis of congenital disorders is the principal aim of newborn scr

119 easoning in autism spectrum disorder (ASD)-a congenital disorder known to compromise ToM.

120 gnal transduction, and ciliary defects cause congenital disorders known collectively as ciliopathies.

121 ts with basal cell naevus syndrome (BCNS), a congenital disorder linked to mutations in the human PTC

122 -specific granule deficiency (SGD) is a rare congenital disorder marked by recurrent bacterial infect

123 the bone marrow, a phenotype resembling the congenital disorder myelokathexis, which is characterize

124 Mutations of PTPN11 cause the congenital disorder Noonan syndrome and pathologically p

125 aggregate set of NDD CNVs were enriched for congenital disorders (odds ratio, 2.0; 95% CI, 1.1-3.5;

126 L1 (L1CAM) result in a debilitating X-linked congenital disorder of brain development.

127 cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by

128 Treacher Collins syndrome (TCS) is a congenital disorder of craniofacial development arising

129 recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation (CDDG) caused by

130 anase (NGLY1) gene cause NGLY1 deficiency, a congenital disorder of deglycosylation.

131 BA), first described over 80 years ago, is a congenital disorder of erythropoiesis with a predilectio

132 dysglycosylation corresponding to a type II congenital disorder of glycosylation (CDG) and the blood

133 ciency is a hallmark of GNE myopathy, a rare congenital disorder of glycosylation (CDG) caused by mut

134 fected individuals present with an inherited congenital disorder of glycosylation (CDG) consisting of

135 t in undetectable serum manganese (Mn) and a Congenital Disorder of Glycosylation (CDG) due to the ex

136 SLC35A2 that define an undiagnosed X-linked congenital disorder of glycosylation (CDG) in three unre

137 ced in Lec9 cells and in fibroblasts from 31 congenital disorder of glycosylation (CDG) patients comp

138 The most common congenital disorder of glycosylation (CDG), phosphomanno

139 Patients with congenital disorder of glycosylation (CDG), type Ib (MPI

140 Phosphomannomutase (PMM) deficiency causes congenital disorder of glycosylation (CDG)-Ia, a broad s

141 -6-P <--> Man-6-P) whose deficiency causes a congenital disorder of glycosylation (CDG)-Ib (MPI-CDG).

142 sion deficiency (LAD) type II, also known as congenital disorder of glycosylation (CDG)-IIc, a rare h

143 ng their disease to be due to an unsuspected congenital disorder of glycosylation (CDG).

144 d glycosylation, the latter manifesting as a congenital disorder of glycosylation (CDG).

145 were discovered as a cause of a new type of congenital disorder of glycosylation (CDG).

146 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG).

147 We describe a new Type II congenital disorder of glycosylation (CDG-II) caused by

148 even patients from four families with GALNT2-congenital disorder of glycosylation (GALNT2-CDG), an O-

149 nine variants of OGT that segregate with OGT Congenital Disorder of Glycosylation (OGT-CDG) have been

150 ed intellectual disability syndrome, the OGT congenital disorder of glycosylation (OGT-CDG).

151 lead to phosphatidylinositol glycan class A congenital disorder of glycosylation (PIGA-CDG), an ultr

152 Congenital disorder of glycosylation (PMM2-CDG) results

153 Steroid 5alpha-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a r

154 Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes

155 e thus identified GMPPA defects as the first congenital disorder of glycosylation characterized by a-

156 n SLC37A4 that causes a dominantly inherited congenital disorder of glycosylation characterized by co

157 humans impair protein glycosylation causing congenital disorder of glycosylation Ib (CDG-Ib), but or

158 e Galnt2-null mouse model, which phenocopies congenital disorder of glycosylation involving GALNT2 an

159 The diagnosis of congenital disorder of glycosylation should be considere

160 ions in the human GCS1 gene give rise to the congenital disorder of glycosylation termed CDG IIb.

161 es a subtype of hyperphosphatasia with ID, a congenital disorder of glycosylation that is also referr

162 Congenital disorder of glycosylation type 1a (CDG-1a) is

163 Recessive coding mutations in PMM2 cause congenital disorder of glycosylation type 1a (CDG1A), a

164 of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb),

165 ukocyte adhesion deficiency type II)/CDGIIc (congenital disorder of glycosylation type IIc) is a rare

166 MSMT was also identified in congenital disorder of glycosylation types Ia and Ib fib

167 s Syndrome (PTRPLS OMIM #261540) is a severe congenital disorder of glycosylation where patients have

168 ponsible for metabolic diseases (cystinosis, congenital disorder of glycosylation), others are candid

169 phila nac(1) mutant as a model for the human congenital disorder of glycosylation, CDG-IIc (also know

170 Peters Plus syndrome (PPS), a congenital disorder of glycosylation, results from reces

171 These results define a new congenital disorder of glycosylation.

172 ied as both a glycogen storage disease and a congenital disorder of glycosylation.

173 usly identified as a glycogenosis, is also a congenital disorder of glycosylation.

174 Bathing suit ichthyosis (BSI) is a rare congenital disorder of keratinization characterized by r

175 matologic, infectious, mouth and dental, and congenital disorder of metabolism.

176 Osteofibrous dysplasia (OFD) is a congenital disorder of osteogenesis and is typically spo

177 Craniosynostosis is a congenital disorder of premature ossification of cranial

178 beta-hydroxylase (DBH) deficiency) is a rare congenital disorder of primary autonomic failure, in whi

179 Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat gl

180 or a multifaceted treatment strategy in this congenital disorder of the connective tissue.

181 Microvillous inclusion disease (MVID) is a congenital disorder of the enterocyte related to mutatio

182 athophysiological mechanisms, we discuss how congenital disorders of autophagy inform our understandi

183 phagy as a therapeutic target and argue that congenital disorders of autophagy provide a unique genet

184 Here we discuss 'congenital disorders of autophagy' as an emerging subcla

185 rafficking deficiencies yet lead to discrete congenital disorders of differing severity in the endocr

186 Human congenital disorders of ganglioside biosynthesis invaria

187 Human congenital disorders of ganglioside biosynthesis result

188 Congenital disorders of glycosylation (CDG) are a group

189 Congenital disorders of glycosylation (CDG) are a group

190 Congenital disorders of glycosylation (CDG) are a group

191 Congenital disorders of glycosylation (CDG) are a group

192 The congenital disorders of glycosylation (CDG) are characte

193 Congenital disorders of glycosylation (CDG) are inherite

194 Nearly 50 congenital disorders of glycosylation (CDG) are known, b

195 The most common cause of human congenital disorders of glycosylation (CDG) are mutation

196 Congenital disorders of glycosylation (CDG) are rare gen

197 Congenital disorders of glycosylation (CDG) are rare gen

198 A gene that causes one of the congenital disorders of glycosylation (CDG) has a mutati

199 Cases of congenital disorders of glycosylation (CDG) have been as

200 blings presenting with the clinical syndrome congenital disorders of glycosylation (CDG) have mutatio

201 We describe two unreported types of congenital disorders of glycosylation (CDG) which are ca

202 e can add XMEN to the ever-growing family of congenital disorders of glycosylation (CDG).

203 ylation cause a series of disorders known as congenital disorders of glycosylation (CDG).

204 s of the GalNAc-T family can lead to certain congenital disorders of glycosylation (CDG).

205 n defects are discussed in relation to human congenital disorders of glycosylation (CDG).

206 More than 30 congenital disorders of glycosylation (CDGs) are associa

207 Congenital disorders of glycosylation (CDGs) are caused

208 Congenital disorders of glycosylation (CDGs) are disorde

209 Congenital disorders of glycosylation (CDGs) are metabol

210 Congenital disorders of glycosylation (CDGs) comprise a

211 Congenital disorders of glycosylation (CDGs) form a gene

212 Congenital disorders of glycosylation (CDGs) form a grou

213 Defects in COG can cause fatal congenital disorders of glycosylation (CDGs) in humans.

214 tigate this by studying patients with type I congenital disorders of glycosylation (CDGs) with defect

215 y cause >35 inherited human disorders called congenital disorders of glycosylation (CDGs).

216 lls, disruption of which is the basis of the congenital disorders of glycosylation (CDGs).

217 ibroblasts from steroid 5-alpha-reductase 3- congenital disorders of glycosylation (SRD5A3-CDG) patie

218 depicted a condition at the intersection of congenital disorders of glycosylation and inherited stor

219 tic SLC35A2 variants have been identified in congenital disorders of glycosylation and somatic SLC35A

220 Congenital disorders of glycosylation are a growing grou

221 Congenital disorders of glycosylation are genetic syndro

222 syndromes form part of the wider spectrum of congenital disorders of glycosylation caused by impaired

223 isomerase (PMI), which when deficient cause congenital disorders of glycosylation CDG-type Ia and ty

224 Congenital disorders of glycosylation comprise most of t

225 sequencing have revealed the breadth of rare congenital disorders of glycosylation in humans and the

226 n contrast to retinitis pigmentosa and other congenital disorders of glycosylation involving dolichol

227 Diseases such as congenital disorders of glycosylation often cause signif

228 ders of glycoconjugate synthesis such as the congenital disorders of glycosylation syndromes.

229 , DPM2, and DPM3, whereby DPM2-CDG links the congenital disorders of glycosylation to the congenital

230 every known enzyme found to be deficient in congenital disorders of glycosylation types I and II.

231 broblasts from a patient with Cog7-deficient congenital disorders of glycosylation, and stable Cog5-d

232 growing number of genetic conditions, termed congenital disorders of glycosylation, that result from

233 mannose metabolism and implies a therapy for congenital disorders of glycosylation-Ia.

234 s may improve muscle function in many of the congenital disorders of glycosylation.

235 tein TMEM165 are known to cause a subtype of Congenital Disorders of Glycosylation.

236 esence of thrombocytopenia in the context of congenital disorders of glycosylation.

237 for example, Charcot-Marie-Tooth disease and congenital disorders of glycosylation.

238 h make dolichol-PP-glycans, lead to numerous congenital disorders of glycosylation.

239 ransferrin, a clinical diagnostic marker for congenital disorders of glycosylation.

240 athway cause diseases that are classified as congenital disorders of glycosylation.

241 Mutations in either induce congenital disorders of glycosylation.

242 ation pathway and gene to a growing group of congenital disorders of glycosylation.

243 because it is used as a therapy for several congenital disorders of glycosylation.

244 and sheds light on the role of TRAP in human congenital disorders of glycosylation.

245 e and together these constitute a subtype of congenital disorders of glycosylation.

246 ypertrophic cardiomyopathies observed in the congenital disorders of glycosylation.

247 role, mutations in the COG complex can cause congenital disorders of glycosylation.

248 Human-imprinting disorders are congenital disorders of growth, development and metaboli

249 irpin structure, is a target of mutations in congenital disorders of mice and humans.

250 molecular mapping of mutations that underlie congenital disorders of monogenic origin can result in b

251 etails of neutrophil cytotoxic functions and congenital disorders of neutrophils.

252 tivity of individual GalNAc-Ts can result in congenital disorders of O-glycosylation (CDG) and influe

253 ception of hypogonadal states resulting from congenital disorders of sex development.

254 (IEIs) comprise more than 500 different rare congenital disorders of the immune system and are charac

255 c stem cell could facilitate gene therapy of congenital disorders of the myeloid system such as lysos

256 Congenital disorders of the peripheral visual system can

257 Severe congenital disorders of thymic development (athymia) can

258 sence of qualitatively different pathways in congenital disorders or following recovery; use of tract

259 Some patients with Noonan syndrome, a congenital disorder predominantly caused by gain-of-func

260 A number of human congenital disorders present with both heart and limb de

261 BRBNS is a rare congenital disorder presenting with multifocal venous ma

262 To avert irreversible complications in congenital disorders producing early pathogenesis, safet

263 United Nations member states, children with congenital disorders remain left behind in policies, pro

264 lysis of non-coding variants associated with congenital disorders remains challenging due to the lack

265 Understanding the etiology of congenital disorders requires interdisciplinary research

266 Neurofibromatosis type I (NF1) is a congenital disorder resulting from loss-of-function of t

267 otic ectodermal dysplasia (XLHED) is a human congenital disorder resulting in abnormal tooth, hair an

268 Congenital disorders resulting in pathological protein d

269 ellular processes and has been implicated in congenital disorders, stroke, and numerous cancers.

270 0 live births and is a frequent component of congenital disorders such as CHARGE, Treacher Collins, C

271 se pathways might be functionally coupled to congenital disorders such as mental retardation.

272 opment, and its disruption can lead to human congenital disorders such as neural tube closure defects

273 al outcomes were seen in vasculitis, whereas congenital disorders such as retinoschisis had the worst

274 Hirschsprung disease (HSCR) is a multigenic, congenital disorder that affects 1 in 5,000 newborns and

275 nita (DC) is a progressive and heterogeneous congenital disorder that affects multiple systems and is

276 The DiGeorge syndrome is a congenital disorder that affects the heart, parathyroid

277 Myelokathexis is a congenital disorder that causes severe chronic leukopeni

278 aniofrontonasal syndrome (CFNS) in humans, a congenital disorder that includes a wide range of cranio

279 Corpus callosum dysgenesis (CCD) is a congenital disorder that incorporates either partial or

280 s a rare example of a non-neurodegenerative, congenital disorder that is associated with triplet repe

281 Microtia is a congenital disorder that manifests as a malformation of

282 s connection (TAPVC) is a potentially lethal congenital disorder that occurs when the pulmonary veins

283 ked to X-linked Opitz BBB/G syndrome (OS), a congenital disorder that primarily affects the formation

284 Hirschsprung disease (HSCR) is a common congenital disorder that results in intestinal obstructi

285 subverted by certain pathogens and consider congenital disorders that affect phagocyte function.

286 Aortic arch malformations are common congenital disorders that are frequently of unknown etio

287 Pterygium syndromes are complex congenital disorders that encompass several distinct cli

288 deficiencies have been implicated in several congenital disorders that exhibit cerebellar abnormaliti

289 However, DNA sequencing of cancer and congenital disorders uncovered a new pattern in which mu

290 the homolog of the gene mutated in the human congenital disorders Van der Woude syndrome and poplitea

291 l LNP formulations for prenatal treatment of congenital disorders via in utero mRNA delivery.

292 e of these genes are associated with several congenital disorders which underscores the importance of

293 th misalignment of pulmonary veins, a lethal congenital disorder, which is characterized by severe ab

294 ase (SCD) and thalassemias (Thal) are common congenital disorders, which can be diagnosed early in ge

295 on syndrome, mucous membrane pemphigoid, and congenital disorders) who underwent KPro implantation at

296 tery anomalies (CAAs) are a diverse group of congenital disorders whose manifestations and pathophysi

297 of 7q11.23 which is commonly deleted in the congenital disorder, Williams syndrome.

298 Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of

299 Diamond Blackfan anemia (DBA) is a congenital disorder with erythroid (Ery) hypoplasia and

300 Aphakia (lack of lens) is a rare human congenital disorder with its genetic etiology largely un