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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

43 MEN1 is an autosomal dominant disease characterized by parathyroid

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

81 Autosomal dominant diseases such as Huntington's disease

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

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

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

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

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

87 This autosomal dominant disease usually appears at the time o

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

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

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

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

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