ライフサイエンスコーパス: hereditary disease

1 e it is the only one to be associated with a hereditary disease.

2 has not previously been widely regarded as a hereditary disease.

3 of protein stability in the pathogenesis of hereditary disease.

4 ent, epigenetics, cancer, brain function and hereditary disease.

5 effects on screening among women at risk for hereditary disease.

6 e identification of a gene responsible for a hereditary disease.

7 se of chemotherapy and failure to diagnose a hereditary disease.

8 carcinoma or a variety of cancer-associated hereditary diseases.

9 tudies, cancer diagnostics, and diagnosis of hereditary diseases.

10 nt retrieval on a collection of abstracts on hereditary diseases.

11 OH events, underlying human cancer and other hereditary diseases.

12 overy of chromosome 13 genes associated with hereditary diseases.

13 en shown to be responsible for about a dozen hereditary diseases.

14 s in cystic fibrosis, one of the most common hereditary diseases.

15 d many of their variants are associated with hereditary diseases.

16 hows promising therapeutic value in treating hereditary diseases.

17 of the causative factors underlying numerous hereditary diseases.

18 the way to clinically approved therapies for hereditary diseases.

19 quantifying the spinal cord abnormalities in hereditary diseases.

20 g technology to correct the genetic basis of hereditary diseases.

21 th susceptibility to cancer as well as other hereditary diseases.

22 functions of this channel are known to cause hereditary diseases.

23 ng tools for long-term genetic correction of hereditary diseases.

24 s, the driving forces for carcinogenesis and hereditary diseases.

25 o provides new targeting of CAMs involved in hereditary diseases.

26 ns of the Sac3 gene have been found in human hereditary diseases.

27 eveloping treatments for MJD, HD and related hereditary diseases.

28 and coding region mutations can cause human hereditary diseases.

29 esis have been associated with several human hereditary diseases.

30 gene expression in patients with acquired or hereditary diseases.

31 e the population to more than 1000 different hereditary diseases.

32 SLC26A4) are associated with different human hereditary diseases.

33 han 28.5 million relationships between 7,574 hereditary diseases (96% of OMIM) based on our similarit

34 patients with retinal iron overload from the hereditary disease aceruloplasminemia.

35 cause primary vesicoureteral reflux (VUR), a hereditary disease affecting approximately 1% of pregnan

36 STATEMENT Spinocerebellar ataxias (SCAs) are hereditary diseases affecting cerebellar Purkinje cells

37 nd patient-specific computational studies of hereditary diseases affecting the red cell cytoskeleton.

38 Hereditary diseases affecting the skeleton are heterogen

39 iciency virus, cancer, organ transplants, or hereditary disease (albinism and xeroderma pigmentosum),

40 roup of proteins known to be associated with hereditary diseases allows the detection of key distinct

41 en mapped on the human genome and a group of hereditary diseases among them have thus far proven unsu

42 antial role in the molecular pathogenesis of hereditary disease and cancer, as well as in normal huma

43 ng and the fact that its deregulation causes hereditary disease and cancer.

44 Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission patter

45 e structure reveals the molecular basis of a hereditary disease and represents one of only a few stru

46 Gene delivery is a promising way to treat hereditary diseases and cancer; however, there is little

47 provides insights into the global nature of hereditary diseases and moreover can be used to predict

48 e discovery of the causative genes of common hereditary diseases and their mechanism of action.

49 CD-9-CM codes 740 to 759, plus neoplasms and hereditary diseases) and for birth defects defined as se

50 Hereditary diseases, animal models, and cell culture stu

51 Hereditary diseases are caused by mutations in genes, an

52 These hereditary diseases are characterized by genetic anticip

53 Many hereditary diseases are characterized by region-specific

54 that incomplete penetrance is common to most hereditary diseases, as numerous molecular, genetic, or

55 Traboulsi syndrome is an autosomal recessive hereditary disease associated with developmental defects

56 onsible for spinocerebellar ataxia type 1, a hereditary disease associated with protein aggregation a

57 Recently, hereditary diseases associated with single gene mutation

58 utations supported by functional evidence or hereditary disease association to be classified either a

59 candidate genes for HPCX and multiple other hereditary diseases at Xq26.3-q27.3.

60 are some of the major manifestations of the hereditary disease ataxia telangiectasia, which is cause

61 ancer are the characteristic features of the hereditary disease ataxia-telangiectasia (A-T), which is

62 Cockayne syndrome (CS) is a human hereditary disease belonging to the group of segmental p

63 ity, protein expression, cell apoptosis, and hereditary disease, but are challenging to monitor in li

64 atoma in the middle ear is not regarded as a hereditary disease, but case reports of familial cluster

65 rosis (CF) is a life-shortening, multisystem hereditary disease caused by abnormal chloride transport

66 CNGA3-achromatopsia is a congenital hereditary disease caused by cone-photoreceptor dysfunct

67 seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide

68 metabolic encephalopathy and arrhythmias, a hereditary disease caused by mutations in TANGO2(4-8).

69 Paramyotonia congenita (PC) is a human hereditary disease caused by one or more amino acid subs

70 Friedreich's ataxia (FRDA) is a human hereditary disease caused by the presence of expanded (G

71 ion and fusion, as evidenced not only by the hereditary diseases caused by mutations in fission/fusio

72 Retinitis pigmentosa is a hereditary disease causing progressive degeneration of r

73 Retinitis pigmentosa is a hereditary disease-causing progressive degeneration of r

74 mann-Pick disease type C2 (NP-C2) is a fatal hereditary disease characterized by accumulation of low-

75 ative to the Peutz-Jeghers syndrome (PJS), a hereditary disease characterized by gastrointestinal ham

76 iple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructi

77 tients with the basal-cell nevus syndrome, a hereditary disease characterized by multiple BCCs and by

78 s of function of the RecQ helicase WRN, is a hereditary disease characterized by premature aging and

79 The hereditary disease Cockayne syndrome (CS) is a complex c

80 A and CSB, which are implicated in the human hereditary disease Cockayne syndrome, may have a role in

81 unction mutations cause a severe form of the hereditary disease dyskeratosis congenita (DC).

82 Psoriasis is a hereditary disease elicited by chronic activation of cut

83 e genome for linkage of markers with various hereditary diseases facilitates identification of affect

84 The human hereditary disease Fanconi anemia leads to severe sympto

85 Fanconi anaemia (FA) is a hereditary disease featuring hypersensitivity to DNA cro

86 dered the species a powerful model for human hereditary diseases, for infectious disease agents, for

87 The same year, our father created the Hereditary Disease Foundation (HDF), dedicated to findin

88 Indeed, although once considered a non-hereditary disease, genomic investigations of familial a

89 sporadic, in rare cases, individuals have a hereditary disease, Gorlin syndrome, that predisposes to

90 east cancers, but samples from patients with hereditary disease had more frequent mutations than did

91 BGC) in human populations and its effects on hereditary disease have yet to be assessed on a genomic

92 A number of human hereditary diseases have been associated with the instab

93 erroportin cause a form of the iron overload hereditary disease hemochromatosis.

94 detection of genes likely to be involved in hereditary disease in the human genome.

95 (ADPKD) is the most common life-threatening hereditary disease in the USA.

96 eal dystrophy (GCD) is an autosomal dominant hereditary disease in which multiple discrete and irregu

97 revailing cause of dominant optic atrophy, a hereditary disease in which progressive degeneration of

98 (MCD; MIM 217800) is an autosomal recessive hereditary disease in which progressive punctate opaciti

99 Cystic fibrosis (CF) is a childhood hereditary disease in which the most common mutant form

100 (CF) remains the most common life-shortening hereditary disease in white populations, with high morbi

101 genomic rearrangements are common causes of hereditary diseases including hereditary nonpolyposis co

102 plays a fundamental role in cancer and some hereditary diseases, including Beckwith-Wiedemann syndro

103 units represent candidate genes for multiple hereditary diseases, including HPC1.

104 This hereditary disease is associated with chromosomal instab

105 , the knowledge regarding cholesteatoma as a hereditary disease is lacking in the literature.

106 Arrhythmogenic cardiomyopathy (AC) is a hereditary disease leading to sudden cardiac death or he

107 Several hereditary disease loci have been genetically mapped to

108 ble involvement in the pathogenesis of other hereditary diseases mapped to chromosome 10q24.

109 tants in these regions that give rise to the hereditary disease methemoglobinemia.

110 yelinating optic neuritis, developmental and hereditary diseases, neurodegenerative disorders, infect

111 omas occurring spontaneously or as part of a hereditary disease neurofibromatosis type 2.

112 ip dysplasia remains one of the most serious hereditary diseases occurring in dogs despite long-stand

113 the instability of large triplet repeats in hereditary diseases occurs by a mechanism different from

114 rythropoietic protoporphyria (EPP) is a rare hereditary disease of heme biosynthesis that manifests a

115 cently isolated genes defective in the human hereditary diseases of copper metabolism, Menkes syndrom

116 ently, isolated genes defective in the human hereditary diseases of copper metabolism, namely Menkes

117 rophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood in No

118 ene-based approach to identify genes causing hereditary diseases of the retina such as retinitis pigm

119 An awareness of these hereditary disease pathways to renal disease is essentia

120 Genetic variations predispose individuals to hereditary diseases, play important role in the developm

121 FAP is a hereditary disease predisposing to cancer in multiple or

122 Nearly 50 hereditary diseases result from the inheritance of abnor

123 sm for the dominant inheritance pattern of a hereditary disease resulting from mutation of the DLX3 g

124 er, the failure to warn family members about hereditary disease risks has already resulted in 3 lawsu

125 whereby gBGC causes substantial increases in hereditary disease risks.

126 Although not generally considered a hereditary disease, striking ethnic variation in prevale

127 uccessfully used in clinical trials to treat hereditary diseases such as haemophilia B, and have been

128 of NER proteins, like DDB and CSA, leads to hereditary diseases such as xeroderma pigmentosum (XP) a

129 al framework for how to deal with identified hereditary disease susceptibilities and how to return th

130 us malignant melanoma in Sinclair swine is a hereditary disease that develops in utero or during the

131 age syndrome (NBS) is an autosomal recessive hereditary disease that shares some common defects with

132 uvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual impairment in inf

133 and ligands have been linked to a variety of hereditary diseases that impact both the heart and the v

134 rimary disease severity (onset in infancy or hereditary disease), the presence of comorbidities or se

135 ibe the contribution of splicing variants to hereditary disease, the potential utility of RNA analysi

136 When splice sites are mutated, as in many hereditary diseases, the spliceosome can aberrantly sele

137 however, in muscle fibers from patients with hereditary disease there was no congophilia.

138 Methemoglobinemia, the first hereditary disease to be identified that involved an enz

139 Although sickle cell anemia was the first hereditary disease to be understood at the molecular lev

140 large amounts by patients suffering from the hereditary disease type I tyrosinaemia and its potent in

141 Hereditary disease was associated with 56% of bilateral

142 een for defects in the gene in patients with hereditary disease, we determined its genomic organizati

143 splicing variants and their contribution to hereditary disease, we evaluated their prevalence, clini

144 Additionally, 6% more abstracts on hereditary diseases were retrieved, and this percentage

145 Hermansky-Pudlak syndrome is an example of a hereditary disease whereby impaired PDI secretion contri

146 Inherited retinal dystrophies are hereditary diseases which have in common the progressive

147 ricular tachycardia (CPVT) is a lethal, rare hereditary disease with an estimated prevalence of 1:10

148 titative magnetic resonance imaging in other hereditary diseases with spinal cord involvement.

149 cystic kidney disease (PKD), the most common hereditary disease worldwide in which patients need cont

150 ion that included the gene implicated in the hereditary disease xeroderma pigmentosum (XPG, also know

151 nding protein, a protein associated with the hereditary disease xeroderma pigmentosum group E, and to

152 the DDB2 gene have been correlated with the hereditary disease xeroderma pigmentosum group E.

153 (p48), in nucleotide excision repair and the hereditary disease xeroderma pigmentosum.