ライフサイエンスコーパス: autosomal dominant disease

1 pair offers a potential treatment option for autosomal dominant disease.

2 ity onset diabetes of the young (MODY) is an autosomal dominant disease.

3 egated with cardiac defects in a family with autosomal dominant disease.

4 n evaluating de novo mutations in studies of autosomal dominant disease.

5 d atrial fibrillation which segregated as an autosomal dominant disease.

6 estinal carcinoids can occur as an inherited autosomal-dominant disease.

7 cal discipline need to be made aware of this autosomal-dominant disease.

8 he common mechanism for pathogenesis of this autosomal-dominant disease.

9 d-type preparations to faithfully model this autosomal-dominant disease.

10 ders but are rarely observed in early-onset, autosomal dominant diseases.

11 domains of transcription factors can lead to autosomal dominant diseases.

12 aroxysmal choreoathetosis (ICCA)-are related autosomal dominant diseases.

13 Among the 62 patients, 33 had autosomal dominant disease, 16 had autosomal recessive d

14 lecular diagnosis; 7.5% (n = 5) of these had autosomal dominant disease, 25.4% (n = 17) had X-linked

15 Carolina macular dystrophy (NCMD) is a rare autosomal-dominant disease affecting macular development

16 ion 9q22.2-31.2 in a pattern consistent with autosomal dominant disease alleles.

17 coding region of the gene in 6 families with autosomal dominant disease and in 2 cases of lytico and

18 Each type of amyloidosis is inherited as an autosomal dominant disease and is associated with a stru

19 mutations in APP or presenilin 1 or 2 cause autosomal dominant disease and these are the substrate a

20 ols, especially for variants associated with autosomal-dominant disease and cancer.

21 autosomal recessive LGMD and three forms of autosomal dominant disease are now recognized and can be

22 ith familial hypocalciuric hypercalcemia, an autosomal-dominant disease arising from rare inactivatin

23 Inclusion body myopathy 3 (IBM-3) is an autosomal dominant disease associated with a missense mu

24 Huntington's disease is an autosomal dominant disease associated with a mutation in

25 Early-onset torsion dystonia, an autosomal dominant disease associated with the DYT1 locu

26 rating heterozygous editing events to create autosomal dominant disease-associated mutations.

27 losin-containing protein (VCP) cause a rare, autosomal dominant disease called inclusion body myopath

28 Shoham et al., who studied patients with an autosomal dominant disease called pyogenic arthritis, py

29 Familial adenomatous polyposis is an autosomal dominant disease caused by a germ-line mutatio

30 dystrophy (OPMD) is a late-onset, primarily autosomal dominant disease caused by a short GCN expansi

31 Spinocerebellar ataxia 10 (SCA10) is an autosomal dominant disease caused by large-scale expansi

32 ogg-Dube syndrome (BHDS) is a rare, genetic, autosomal dominant disease caused by mutation in a folli

33 Spinal Muscular Atrophy is an autosomal dominant disease caused by mutations and delet

34 Tuberous sclerosis complex, an autosomal dominant disease caused by mutations in either

35 Tuberous sclerosis complex (TSC), an autosomal dominant disease caused by mutations in either

36 lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11

37 trophic cardiomyopathy (FHC) is an inherited autosomal dominant disease caused by mutations in sarcom

38 nal pseudohypoaldosteronism type 1 is a rare autosomal-dominant disease caused by NR3C2 loss-of-funct

39 pulmonary arterial hypertension (FPAH), the autosomal dominant disease-causing BMPR2 mutation is onl

40 Our results suggest that autosomal dominant disease-causing mutations could be pr

41 Hereditary cylindromatosis is a rare autosomal dominant disease characterised by the developm

42 Familial juvenile polyposis is an autosomal dominant disease characterized by a predisposi

43 rneal dystrophy (SCCD; MIM 121800) is a rare autosomal dominant disease characterized by an abnormal

44 Neurofibromatosis 2 (NF2) is an autosomal dominant disease characterized by bilateral ve

45 imary pulmonary hypertension (PPH) is a rare autosomal dominant disease characterized by distinctive

46 Noonan syndrome is an autosomal dominant disease characterized by dysmorphic f

47 milial adenomatous polyposis (FAP) is a rare autosomal dominant disease characterized by germline mut

48 hy with spheroids (HDLS) in humans is a rare autosomal dominant disease characterized by giant neuroa

49 Tuberous sclerosis (TSC) is an autosomal dominant disease characterized by hamartoma fo

50 Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by hamartoma fo

51 milial hypertrophic cardiomyopathy (FHC), an autosomal dominant disease characterized by left ventric

52 milial hypertrophic cardiomyopathy (FHC), an autosomal dominant disease characterized by left ventric

53 Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by multiorgan h

54 The Rieger syndrome is an autosomal dominant disease characterized by ocular, cran

55 MEN1 is an autosomal dominant disease characterized by parathyroid

56 le muscular dystrophy type 1A (LGMD1A) is an autosomal dominant disease characterized by progressive

57 Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent ed

58 thyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disease characterized by the developm

59 itary transthyretin amyloidosis (ATTR) is an autosomal dominant disease characterized by the extracel

60 eycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-whit

61 ipt cause pseudohypoaldosteronism type 2, an autosomal-dominant disease characterized by hypertension

62 se pseudohypoaldosteronism type 2 (PHA2), an autosomal-dominant disease characterized by hypertension

63 nocerebellar ataxia type 13 (SCA13), a human autosomal-dominant disease characterized by locomotor im

64 Familial adenomatous polyposis (FAP) is an autosomal-dominant disease characterized by the developm

65 Lynch Syndrome (LS) is an autosomal dominant disease conferring a high risk of col

66 gion failed to identify any highly penetrant autosomal dominant disease-conferring mutations in these

67 ability in the loci predisposing subjects to autosomal dominant disease contributes to the risk of sp

68 articularly true for LoFs in genes linked to autosomal-dominant diseases driven by haploinsufficiency

69 ubunit hKv1.1, are associated with the human autosomal dominant disease episodic ataxia type 1 (EA1).

70 l was based on limited data in patients with autosomal dominant disease, even though they comprise ap

71 1) cause cerebral cavernous malformation, an autosomal dominant disease featuring malformation of cer

72 gies under development include approaches to autosomal dominant disease ("gain of function"), attempt

73 r 67.8% (61 of 90) of pathogenic variants in autosomal dominant disease genes and 51.7% (15 of 29) of

74 In contrast, in patients with defined autosomal dominant disease, genetic counseling is of hig

75 ygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and auto

76 e model of multiple osteochondromas (MO), an autosomal dominant disease in humans, also known as mult

77 s that encode some of these proteins produce autosomal dominant disease in mid to late adult life.

78 iesis (cyclic neutropenia, MIM 162800) is an autosomal dominant disease in which blood-cell productio

79 Familial hypercholesterolemia is an autosomal dominant disease in which the gene encoding th

80 This is an autosomal-dominant disease in which there is a disorder

81 A family of autosomal-dominant diseases including May-Hegglin anomal

82 allele is a viable therapeutic strategy for autosomal dominant diseases, including sialuria.

83 retain them in the ER, consistent with their autosomal-dominant disease inheritance.

84 with long-QT syndrome, but the causality of autosomal dominant disease is disputed.

85 A major cause of autosomal dominant disease is haploinsufficiency, whereb

86 nism by which one mutant allele produces the autosomal-dominant disease is unexplained.

87 sia (ARVD), a cardiomyopathy inherited as an autosomal-dominant disease, is characterized by fibro-fa

88 of valosin-containing protein (VCP) cause an autosomal dominant disease known as inclusion body myopa

89 FSHD is an autosomal dominant disease linked to chromosome 4q35, bu

90 ne Mendelian Inheritance in Man #615048), an autosomal dominant disease mapped to chromosome 22q11.2.

91 Using an autosomal dominant disease model with 85% or 50% age-dep

92 Neurofibromatosis I is an autosomal dominant disease more common in mentally handi

93 Here we describe a novel autosomal dominant disease named familial "multiple syst

94 (FBN-1) gene cause Marfan syndrome (MFS), an autosomal dominant disease of connective tissue.

95 Fuchs corneal dystrophy (FCD) is an autosomal dominant disease of the corneal endothelium wi

96 on to acute myeloid leukemia (FPD/AML) is an autosomal dominant disease of the hematopoietic system t

97 r dystrophy (FSHD), a common myopathy, is an autosomal dominant disease of unknown molecular mechanis

98 te ML penetrance of 1648 rare variants in 31 autosomal dominant disease-predisposition genes.

99 Slow-channel syndrome (SCS) is an autosomal-dominant disease resulting from mutations in m

100 ) (SPG4:OMIM#182601) has suggested that this autosomal dominant disease results from loss of function

101 Autosomal dominant diseases such as Huntington's disease

102 omic regions harboring genes associated with autosomal-dominant diseases than in regions not implicat

103 DLR cause familial hypercholesterolaemia, an autosomal dominant disease that is characterized by a ma

104 itary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that manifests as vascular ma

105 lopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disease that presents in the fifth or

106 lial hypertrophic cardiomyopathy (FHC) is an autosomal-dominant disease that is both clinically and g

107 used TGFBI corneal dystrophies as a model of autosomal dominant disease to assess the use of CRISPR/C

108 ex 1 (Tsc1) or Tsc2, molecules linked to the autosomal dominant disease tuberous sclerosis, an increa

109 This autosomal dominant disease usually appears at the time o

110 ngs establish a mechanism of pathogenesis in autosomal dominant diseases where full expression of the

111 population); in other cases, they represent autosomal dominant disease with age-dependent penetrance

112 ations in N144, Y64N, and C326 residue cause autosomal dominant disease with parenchymal iron overloa

113 It is inherited as an autosomal dominant disease with reduced penetrance, alth

114 LMX1B cause nail-patella syndrome (NPS), an autosomal dominant disease with skeletal abnormalities,

115 Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant disease with variable clinical presen

116 - or near-complete-LoF SPINK1 variants cause autosomal-dominant disease with moderate penetrance (~55