ライフサイエンスコーパス: dominant inheritance

1 typical JOAG and that demonstrate autosomal dominant inheritance.

2 pen-angle glaucoma (JOAG) exhibits autosomal dominant inheritance.

3 tein genes have been reported with autosomal dominant inheritance.

4 ders (fibrillinopathies) that show autosomal dominant inheritance.

5 g of affected patients, suggesting autosomal dominant inheritance.

6 differences correlate with recessive versus dominant inheritance.

7 congenita in a large pedigree with autosomal dominant inheritance.

8 ominant parkinsonism of apparently autosomal dominant inheritance.

9 an families whose members exhibit apparently dominant inheritance.

10 can be sporadic, or familial with autosomal dominant inheritance.

11 rder may be familial with apparent autosomal dominant inheritance.

12 isplaying recessive inheritance and two with dominant inheritance.

13 ecretion, early disease onset, and autosomal dominant inheritance.

14 inity of hemoglobin, and typically autosomal dominant inheritance.

15 ith around a third of cases having autosomal dominant inheritance.

16 n adolescence or childhood, and by autosomal dominant inheritance.

17 es previously only associated with autosomal dominant inheritance.

18 ressed with wild-type desmin-consistent with dominant inheritance.

19 ants associated with monogenic diseases with dominant inheritance.

20 ed FSGS and explain this disease's autosomal dominant inheritance.

21 che and malaise associated with an autosomal-dominant inheritance.

22 families in whom oligodontia segregates with dominant inheritance.

23 dysregulation, which explains the autosomal dominant inheritance.

24 ariants, including 2 families with autosomal dominant inheritance.

25 generations, highly suggestive of autosomal-dominant inheritance.

26 All mutations were compatible with de novo dominant inheritance.

27 51 years and a pattern suggesting autosomal dominant inheritance.

28 possible conditions that might prevent such dominant inheritance.

29 on chromosomes 1p13 and 2q37 under autosomal dominant inheritance.

30 catagen and that the mutation displays semi-dominant inheritance.

31 -associated genodermatosis with an autosomal dominant inheritance.

32 I:C levels, proportionately low VWF:RCo, and dominant inheritance.

33 tted from father to son indicating autosomal dominant inheritance.

34 ical transmission, consistent with autosomal dominant inheritance.

35 3 or HNF1A MODY), a disease characterized by dominant inheritance, age of onset before 25 to 35 years

36 eterozygous state in a family with autosomal-dominant inheritance and a missense change (c.215T>A [p.

37 subtype of diabetes defined by an autosomal dominant inheritance and a young onset.

38 ) is a complex cardiomyopathy with autosomal dominant inheritance and age-related incomplete penetran

39 2-5% of NIDDM, is characterized by autosomal dominant inheritance and an age of onset of 25 years or

40 athogenic variants in 145 cardiac genes with dominant inheritance and calculated a previously establi

41 nset of diffuse skin fibrosis with autosomal dominant inheritance and complete penetrance.

42 We studied a family exhibiting dominant inheritance and defined a mutation (AE1-M909T)

43 iants were depleted in genes associated with dominant inheritance and haploinsufficiency, although so

44 nic autoinflammatory disorder with autosomal dominant inheritance and has been associated with monoal

45 (MODY), which is characterized by autosomal-dominant inheritance and impaired glucose-stimulated ins

46 Mutations identified in all families with dominant inheritance and in the one simplex subject with

47 Huntington disease (HD) has autosomal dominant inheritance and is caused by mutations leading

48 diabetes mellitus characterized by autosomal-dominant inheritance and onset before 25 years of age.

49 t with variable age at onset, with autosomal dominant inheritance and reduced penetrance in a family

50 These conditions show recessive or dominant inheritance and result in either loss of recept

51 Families displayed autosomal dominant inheritance and there was an evolving pattern o

52 niece, and half sisters are consistent with dominant inheritance and variable expressivity of the ph

53 occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (with predomi

54 e p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal r

55 their at-risk relatives (assuming autosomal dominant inheritance), and in only 1 of 19 (5%) of unrel

56 subtle functional effect; 2 showed possible dominant inheritance, and 2 did not.

57 en reported in three families with autosomal dominant inheritance, and a family with autosomal recess

58 allenge, insensitivity to high-K+ challenge, dominant inheritance, and absence of myotonia.

59 e enriched in essential genes, for autosomal-dominant inheritance, and in protein binding and interac

60 or a family member with appropriate X-linked dominant inheritance, and receipt of conventional therap

61 Cardiomyopathy, neuropathy, and dominant inheritance are frequent associated features.

62 familial Alzheimer's disease with autosomal dominant inheritance are not well understood.

63 nset primary torsion dystonia with autosomal dominant inheritance but low phenotypic penetrance.

64 ful in the heterozygous state - representing dominant inheritance - but others only with the bialleli

65 ilial VUR most closely conforms to autosomal-dominant inheritance, but because of variable penetrance

66 The mutant phenotypes exhibit dominant inheritance, but incomplete penetrance.

67 congenital, as the consequence of autosomal dominant inheritance, coalitions also can be acquired by

68 Tumors appear in SDH mutation carriers with dominant inheritance due to loss of heterozygosity in su

69 Familial cases follow autosomal-dominant inheritance due to mutations in one of three ge

70 ated families of Greek origin with autosomal dominant inheritance for the PD phenotype.

71 Dominant inheritance has been reported in two large fami

72 a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years.

73 is, i.e. somatic single-hit inactivation and dominant inheritance, has not been extensively explored.

74 However, pedigrees consistent with autosomal dominant inheritance have also been documented.

75 X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigr

76 oximately 65% of DBA patients with autosomal dominant inheritance have heterozygous mutations or dele

77 D90A pedigrees with dominant inheritance have now been reported and this app

78 itance model), the best single gene model is dominant inheritance if only BPI is considered.

79 en recognized to be familial, with autosomal dominant inheritance in many cases.

80 ted in one affected individual and autosomal dominant inheritance in nine affected individuals from f

81 aminin subunit beta 3 ( LAMB3) cause AI with dominant inheritance in the absence of other cosegregati

82 icated either autosomal-dominant or X-linked-dominant inheritance in this family.

83 icult cases, such as diseases with autosomal dominant inheritance, incomplete penetrance, or mutation

84 Autosomal dominant inheritance is often seen, and a locus in the p

85 l recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped

86 s pigment and melanosomes in the retina in a dominant inheritance manner.

87 's syndrome, a genetic disorder of autosomal dominant inheritance, may be confused with infantile sar

88 cases are familial (FALS), typically with a dominant inheritance mode.

89 allenge intervention [n = 3 TT; n = 3 GG/GT (dominant inheritance model)].

90 For the single- and two-locus dominant-inheritance models that we studied, when a dise

91 ative mechanism has been inferred based upon dominant inheritance, mulitimerization of monomers to fo

92 DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and

93 uggest a possible molecular paradigm for the dominant inheritance observed in some pituitary disorder

94 We report a new family with autosomal dominant inheritance of a late onset rapidly progressive

95 A large east Texas family with autosomal dominant inheritance of a novel bleeding disorder has be

96 Our results can explain the autosomal dominant inheritance of AID variants with truncated E5 i

97 rodimer with Cu,Zn SOD may contribute to the dominant inheritance of ALS mutations.

98 formational maturation that may underlie the dominant inheritance of ARDP.

99 Because the predicted dominant inheritance of cancer risk has not been demonst

100 individuals from two families with autosomal-dominant inheritance of coloboma identified two differen

101 lain the clinical presentation and autosomal dominant inheritance of CPVT-CaM mutations and suggest t

102 rately-sized UK kindred exhibiting autosomal-dominant inheritance of craniocervical dystonia.

103 APC mutations are associated with autosomal dominant inheritance of disease in humans.

104 Mutations in presenilin 1 (PS1) lead to dominant inheritance of early onset familial Alzheimer d

105 , in the majority of families with autosomal dominant inheritance of EDS, there appears to be linkage

106 Although mutations in the APP gene lead to dominant inheritance of familial AD, the normal function

107 for type-preferring slots might support the dominant inheritance of FHM1.

108 hese results support the hypothesis that the dominant inheritance of Fpn-iron overload disease is due

109 ge European Australian family with autosomal dominant inheritance of frontotemporal dementia and amyo

110 ults provide a molecular explanation for the dominant inheritance of hepcidin resistant iron overload

111 TNZD and provide the first evidence for the dominant inheritance of heterozygous ZnT-2 mutations via

112 sufficiency as a prevalent mechanism for the dominant inheritance of HHD, by suggesting that the leve

113 However, dominant inheritance of hypermethioninemia, also hypothe

114 viding an explanation for the R264H-mediated dominant inheritance of hypermethioninemia.

115 the first report of a family with autosomal dominant inheritance of keratoconus in association with

116 MMRpro models the autosomal dominant inheritance of mismatch repair mutations, with

117 gg-Dube syndrome, characterized by autosomal dominant inheritance of multiple benign skin lesions, re

118 , a genetic trait characterized by autosomal dominant inheritance of multiple copies of TPSAB1 encodi

119 , a genetic trait characterized by autosomal dominant inheritance of multiple copies of TPSAB1 encodi

120 HMPS) is characterized by apparent autosomal dominant inheritance of multiple types of colorectal pol

121 The dominant inheritance of mutant SOD1 and lack of symptoms

122 e are familial and associated with autosomal dominant inheritance of mutations in genes encoding the

123 adically or have been associated with mostly dominant inheritance of mutations in more than 30 genes.

124 ul for individuals with recessive as well as dominant inheritance of nonsyndromic auditory neuropathy

125 2 members, we firmly establish the autosomal dominant inheritance of one of the beta-spectrin null mu

126 , there are families with apparent autosomal dominant inheritance of PDS in which the risk to relativ

127 mental stuttering in a family with autosomal dominant inheritance of persistent stuttering.

128 We studied a family with autosomal dominant inheritance of PFCP in which four subjects were

129 Dominant inheritance of point mutations in CuZn superoxi

130 at risk for plasma cell dyscrasias and that dominant inheritance of posttranslationally modified aut

131 in principle against pests with recessive or dominant inheritance of resistance.

132 KT2/PKBbeta in a family that shows autosomal dominant inheritance of severe insulin resistance and di

133 At both QTLs, the data are consistent with dominant inheritance of the allele contributing to obesi

134 Segregation analysis suggested autosomal-dominant inheritance of the combined phenotype.

135 Given the dominant inheritance of the condition and the risk of su

136 o the mother's safety and in relation to the dominant inheritance of the condition.

137 t mutations probably represent null alleles, dominant inheritance of the disease may result from hapl

138 oviding insight into an understanding of the dominant inheritance of the disease.

139 culture medium, which might be the basis of dominant inheritance of these variants through a gain-of

140 Consistent with the dominant inheritance of this type of FAD, this function

141 Families identified with dominant inheritance of thoracic aortic aneurysms and di

142 relatives from a large family with autosomal-dominant inheritance of thoracic aortic aneurysms variab

143 De novo occurrence and autosomal-dominant inheritance of variants, including paternal mos

144 We have identified a family with autosomal dominant inheritance of WHIM syndrome that is caused by

145 Mutations in PS1 lead to dominant-inheritance of early-onset familial Alzheimer's

146 Diseases with autosomal dominant inheritance often show pleiotropy, different de

147 ght (NEFL) gene with predominantly autosomal dominant inheritance, often presenting with a progressiv

148 onogenic disorder characterized by autosomal dominant inheritance, onset usually before 25 yr of age,

149 itors to erythropoietin (EPO), and autosomal dominant inheritance or sporadic occurrence.

150 large functional effect and showed autosomal dominant inheritance or were de novo.

151 tionally, X-linked (p < 0.032) and autosomal dominant inheritance (p < 0.039) demonstrated a signific

152 FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the

153 AV as a condition with an entirely autosomal dominant inheritance pattern and emphasize the variabili

154 bleeding disorder that exhibits an autosomal dominant inheritance pattern and presents severe bleedin

155 nch block, > or =1-mm STE) with an autosomal dominant inheritance pattern characterized by incomplete

156 The dominant inheritance pattern has been postulated to refl

157 CD and NOFCD groups, with a likely autosomal dominant inheritance pattern in 9 of 10 families.

158 rs is commonly recognized, with an autosomal dominant inheritance pattern in approximately 10% of all

159 Rarely, an autosomal dominant inheritance pattern occurs.

160 tiation and also suggest a mechanism for the dominant inheritance pattern of a hereditary disease res

161 reported over 50 years ago with an autosomal dominant inheritance pattern of chronic pancreatitis, di

162 The dominant inheritance pattern of FAD indicates that it ma

163 re we studied two families with an autosomal dominant inheritance pattern of keloids.

164 ociated with dominant functional features or dominant inheritance pattern of myotonia congenita.

165 n, thus establishing a digenic and autosomal dominant inheritance pattern of PRAAS.

166 yte differentiation, which thus explains the dominant inheritance pattern of PTS despite the presence

167 al description of a family with an autosomal dominant inheritance pattern of retinal dystrophy associ

168 In families, emphysema showed an autosomal dominant inheritance pattern, along with pulmonary fibro

169 ith long disease duration, with an autosomal dominant inheritance pattern, and with tau-rich neurofib

170 neurocutaneous syndrome having an autosomal dominant inheritance pattern, though the condition has a

171 on, in which MS segregates with an autosomal dominant inheritance pattern.

172 ancer-prone genodermatosis with an X-linked, dominant inheritance pattern.

173 th syndrome (CSS) phenotype and an autosomal dominant inheritance pattern.

174 ith the HGF trait observed to segregate in a dominant inheritance pattern.

175 ed platelets, decreased ATP secretion, and a dominant inheritance pattern.

176 >T; p.Q215X) causes juvenile cataract with a dominant inheritance pattern.

177 which both autosomal-recessive and autosomal-dominant inheritance patterns have been described.

178 mutation has been reported in families with dominant inheritance patterns of Parkinson's disease, su

179 e been reported to cause cataracts with semi-dominant inheritance patterns.

180 Autosomal dominant inheritance, reduced penetrance, and 7 desmosom

181 The autosomal dominant inheritance strongly suggests that FENIB is cau

182 se diseases occur as the result of autosomal dominant inheritance, suggesting that WT and mutant subu

183 ain (PHD1) zinc finger of AIRE that followed dominant inheritance, typically characterized by later o

184 Dominant inheritance was apparent in seven patients, car

185 Autosomal dominant inheritance was observed in all families.

186 and possible deviance from strict autosomal dominant inheritance, we performed nonparametric linkage

187 Recessive and dominant inheritance were observed in 92% and 8% of case

188 POLD1-associated syndrome shows an autosomal dominant inheritance, whereas NTHL1-associated syndrome

189 o-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maxi

190 Both families showed dominant inheritance with a clinical phenotype resemblin

191 = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance.

192 BAV/AscAA shows autosomal dominant inheritance with incomplete penetrance and male

193 ctively, consistent with de novo variants or dominant inheritance with incomplete penetrance as the r

194 X-linked dominant inheritance with male lethality is probably res

195 changes show glutamine length dependence and dominant inheritance with recruitment of wild-type prote

196 Our findings indicate autosomal dominant inheritance with reduced penetrance, and/or aut

197 , the majority of studies indicate autosomal dominant inheritance with reduced penetrance.

198 e possible only under recessive inheritance, dominant inheritance with relatively rare (<5%) disease-