ライフサイエンスコーパス: congenital disorder

1 immunodeficiency is a rare, invariably fatal congenital disorder.

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

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

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

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

6 geal phenotypes in zebrafish models of human congenital disorders.

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

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

9 enotypes seen in Holoprosencephaly and other congenital disorders.

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

11 our understanding of genes underlying human congenital disorders.

12 have been performed for malignancies and for congenital disorders.

13 which correctly predicted the cause of many congenital disorders.

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

15 tegy for understanding mechanisms underlying congenital disorders.

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

17 ed tremendous insight into gene function and congenital disorders.

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

19 oglycoproteins consistent with related human congenital disorders.

20 gical interventions for this group of severe congenital disorders.

21 ical consequences of ACTC mutations in human congenital disorders.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

84 -6-P <--> Man-6-P) whose deficiency causes a congenital disorder of glycosylation (CDG)-Ib (MPI-CDG).

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

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

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

88 Congenital disorder of glycosylation (PMM2-CDG) results

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

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

91 The diagnosis of congenital disorder of glycosylation should be considere

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

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

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

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

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

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

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

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

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

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

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

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

104 These results define a new congenital disorder of glycosylation.

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

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

107 Craniosynostosis is a congenital disorder of premature ossification of cranial

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

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

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

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

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

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

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

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

116 Human congenital disorders of ganglioside biosynthesis invaria

117 Human congenital disorders of ganglioside biosynthesis result

118 Congenital disorders of glycosylation (CDG) are a group

119 Congenital disorders of glycosylation (CDG) are a group

120 The congenital disorders of glycosylation (CDG) are characte

121 Congenital disorders of glycosylation (CDG) are inherite

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

123 Congenital disorders of glycosylation (CDG) are rare gen

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

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

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

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

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

129 Congenital disorders of glycosylation (CDGs) are caused

130 Congenital disorders of glycosylation (CDGs) are disorde

131 Congenital disorders of glycosylation (CDGs) are metabol

132 Congenital disorders of glycosylation (CDGs) form a gene

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

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

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

136 Congenital disorders of glycosylation are genetic syndro

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

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

139 Congenital disorders of glycosylation comprise most of t

140 Diseases such as congenital disorders of glycosylation often cause signif

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

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

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

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

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

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

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

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

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

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

151 ypertrophic cardiomyopathies observed in the congenital disorders of glycosylation.

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

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

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

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

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

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

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

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

160 Congenital disorders of the peripheral visual system can

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

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

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

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

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

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

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

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

169 0 live births and is a frequent component of congenital disorders such as CHARGE, Treacher Collins, C

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

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

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

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

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

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

176 Myelokathexis is a congenital disorder that causes severe chronic leukopeni

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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