ライフサイエンスコーパス: dominantly-inherited

1 PT, the gene that encodes Tau, mutations are dominantly inherited.

2 myopia/hyperopia; astigmatism appears to be dominantly inherited.

3 nked to trans-acting variants are most often dominantly inherited.

4 only 1% to 3% of patients and almost all are dominantly inherited.

5 ms of CHI due to mosaic UPD in patients with dominantly inherited ABCC8 (or KCNJ11) gene mutations.

6 are associated with early-onset, autosomal, dominantly inherited AD, in addition to the at-risk gene

7 steine string protein-alpha (CSPalpha) cause dominantly inherited adult-onset neuronal ceroid lipofus

8 In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the

9 The recent identification of a dominantly inherited, adult-onset, progressive dementia

10 lation is supported by the identification of dominantly inherited alpha-syn (SNCA) gene mutations in

11 s of families with ADAD participating in the Dominantly Inherited Alzheimer Network (DIAN) study incl

12 s with autosomal dominant AD (ADAD) from the Dominantly Inherited Alzheimer Network (DIAN) the effect

13 ited Alzheimer's disease using data from the Dominantly Inherited Alzheimer Network (DIAN).

14 e leverage the unique characteristics of the Dominantly Inherited Alzheimer Network and ultrasensitiv

15 The Dominantly Inherited Alzheimer Network conducted clinica

16 re data from symptomatic participants in the Dominantly Inherited Alzheimer Network observational stu

17 able analyses of 338 lumbar punctures in the Dominantly Inherited Alzheimer Network observational stu

18 are of their mutation status enrolled in the Dominantly Inherited Alzheimer Network, a study of perso

19 ts (n = 299; age = 39.03 +/- 10.13) from the Dominantly Inherited Alzheimer Network, including 184 (6

20 evels of tau PET binding in individuals with dominantly inherited Alzheimer's disease using data from

21 cross four decades of disease progression in dominantly inherited Alzheimer's disease.

22 is elevated in symptomatic individuals with dominantly inherited Alzheimer's disease.

23 res (UPDRS-III) from 433 participants of the Dominantly Inherited Alzheimer's Network observational s

24 CP) gene in an Italian family with autosomal dominantly inherited amyotrophic lateral sclerosis (ALS)

25 uperoxide dismutase (SOD1) are causative for dominantly inherited amyotrophic lateral sclerosis (ALS)

26 t the HSP90-SUMO1 carrier state is autosomal-dominantly inherited and caused by the inability of SUMO

27 SCA8 is dominantly inherited and is caused by large CTG repeat e

28 two affected individuals from a family with dominantly inherited ASD and glaucoma to identify a 748-

29 Dominantly inherited ataxias (spinocerebellar ataxias) a

30 Another group of dominantly inherited ataxias are episodic ataxias due to

31 as with mutations in non-coding regions, and dominantly inherited ataxias with chromosomal localizati

32 CAG repeat (polyglutamine; polyQ) disorders, dominantly inherited ataxias with mutations in non-codin

33 t on chromosome 14q12 in a large family with dominantly inherited atrial septal defect.

34 dependent apoptosis and cause recessively or dominantly inherited autoimmune lymphoproliferative synd

35 is, pyoderma gangrenosum, and acne (PAPA), a dominantly inherited autoinflammatory disorder mediated

36 ia (FCU) and Muckle-Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cau

37 or-associated periodic syndrome (TRAPS) is a dominantly inherited autoinflammatory syndrome that resu

38 amilial Danish dementia (FDD), are caused by dominantly inherited autosomal mutations and are charact

39 issense mutations of the GTPase Rab7 cause a dominantly inherited axonal degeneration known as Charco

40 fied and characterized a mutant mouse with a dominantly inherited axonal neuropathy caused by a Gars

41 This American family with dominantly inherited axonal polyneuropathy reveals a phe

42 x (TSC) and Peutz-Jeghers syndrome (PJS) are dominantly inherited benign tumor syndromes that share s

43 ied only in humans and are a common cause of dominantly inherited blindness from retinal degeneration

44 Mutations in the BRCA2 gene are dominantly inherited but cause cancers when the wild-typ

45 genesis of Neurofibromatosis type 2 (NF2), a dominantly inherited cancer disorder caused by mutations

46 Neurofibromatosis type 2 (NF2) is a dominantly inherited cancer disorder caused by mutations

47 ltiple endocrine neoplasia type 2 (MEN 2), a dominantly inherited cancer predisposition.

48 recessive tumour suppressor genes (TSGs) in dominantly inherited cancer susceptibility syndromes.

49 sporadic human cancers as well as in several dominantly inherited cancer syndromes known as phakomato

50 MEN2A is a dominantly-inherited cancer predisposition syndrome char

51 B identified in an extended kindred causes a dominantly inherited cardiac arrhythmia, initially descr

52 To investigate the mechanism of dominantly inherited cardiomyopathy, we generated transg

53 these, a 3 bp (DeltaGAG) deletion, underlies dominantly inherited cases of early-onset torsion dyston

54 l human congenital myopathies, including the dominantly inherited central core disease and exercise-i

55 The Moonwalker (Mwk) mouse is a model of dominantly inherited cerebellar ataxia caused by a gain-

56 type IV collagen alpha 1 gene (COL4A1) cause dominantly inherited cerebrovascular disease.

57 he ubiquitin-like protein ubiquilin 2, cause dominantly inherited, chromosome-X-linked ALS and ALS/de

58 ve been shown to co-segregate with autosomal dominantly inherited coloboma.

59 We identified three families with a dominantly inherited complex of cold-induced urticaria,

60 an mutation for Huntington's disease (HD), a dominantly inherited condition characterized by striatal

61 vestigated the genetic cause of an autosomal dominantly inherited condition of retinal dystrophy and

62 arie-Tooth neuropathy (CMT2) is an autosomal-dominantly inherited condition that manifests in the sec

63 Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, c

64 We identified a family with dominantly inherited congenital myopathy characterized b

65 more than a decade that Marfan syndrome - a dominantly inherited connective tissue disorder characte

66 dysregulation of OVOL2 as a common cause of dominantly inherited corneal endothelial dystrophies.

67 h family comprised of seven individuals with dominantly inherited DA, a c.98C>T (p.Ala33Val) variant

68 ave been studying mouse mutants that exhibit dominantly inherited defects in either skin and/or hair

69 ne and frontotemporal dementia (IBMPFD) is a dominantly inherited degenerative disorder caused by mut

70 ne and frontotemporal dementia (IBMPFD) is a dominantly inherited degenerative disorder caused by mut

71 ditary sensory neuropathy type 1 (HSN1) is a dominantly inherited degenerative disorder of the periph

72 r-J mice, a genetically authentic model of a dominantly inherited demyelinating neuropathy of humans.

73 2 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders.

74 is characterized by a syndrome of autosomal dominantly inherited diabetes and exocrine pancreatic dy

75 L-sIDOL mice are a robust, dominantly inherited, diet-inducible model for the study

76 on the current findings on Carney complex, a dominantly inherited disease and a unique multiple endoc

77 In two families with dominantly inherited disease and in 90 sporadic cases th

78 meral muscular dystrophy (FSHD) is a common, dominantly inherited disease caused by the epigenetic de

79 ause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherited disease characterized by degenerati

80 re linked to episodic ataxia type 2 (EA2), a dominantly inherited disease characterized by paroxysmal

81 Huntington disease (HD) is an autosomal dominantly inherited disease that exhibits genetic antic

82 Tuberous sclerosis complex (TSC) is a dominantly inherited disease that is characterized by th

83 s pigmentosa, especially among patients with dominantly inherited disease.

84 no preventive or curative therapies for this dominantly inherited disease.

85 ver, the feasibility of these approaches for dominantly inherited diseases - where treatment may requ

86 nt as disease modifiers in MJD and autosomal-dominantly inherited diseases in general.

87 This can be applied to counter the effect of dominantly inherited diseases such as epidermolytic icht

88 NA produce pathogenic RNA species that cause dominantly inherited diseases such as myotonic dystrophy

89 tically beneficial for the treatment of such dominantly inherited diseases.

90 Neurofibromatosis 2 (NF2) is a dominantly inherited disorder characterized by bilateral

91 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited disorder characterized by cerebellu

92 Peutz-Jeghers syndrome (PJS) is a dominantly inherited disorder characterized by gastroint

93 ignant hyperthermia (MH) susceptibility is a dominantly inherited disorder in which volatile anesthet

94 Marfan syndrome (MFS) is a dominantly inherited disorder of connective tissue cause

95 ary xerocytosis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration

96 n adults, affecting 1/8000 individuals--is a dominantly inherited disorder with a peculiar and rare p

97 Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells o

98 , and four unrelated individuals with a rare dominantly inherited disorder, Freeman-Sheldon syndrome

99 ebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a path

100 the torsinA protein, is responsible for this dominantly inherited disorder, which is non-degenerative

101 n erythropoietin receptor (EPOR) result in a dominantly inherited disorder-primary familial congenita

102 ense mutations in human K17 give rise to two dominantly inherited disorders apparented to ectodermal

103 Dominantly inherited disorders are not typically conside

104 annayan-Riley-Ruvalcaba (BRR) syndromes, two dominantly inherited disorders characterized by mental r

105 familial cold autoinflammatory syndrome, two dominantly inherited disorders with some similarities to

106 have previously been found to cause the two dominantly inherited disorders, Best macular dystrophy a

107 y for treating inherited dementias and other dominantly inherited disorders.

108 or SNPs in extending the utility of siRNA in dominantly inherited disorders.

109 utant, not normal allele, could benefit many dominantly inherited disorders.

110 tified as the cause of one form of autosomal-dominantly inherited dystonia.

111 ino acid substitution mutations in tau cause dominantly inherited early onset dementia.

112 Mutations in torsinA cause dominantly inherited early-onset torsion dystonia in hum

113 In 10 family members with dominantly inherited, early-onset osteoporosis, we ident

114 The autosomal dominantly inherited east Texas bleeding disorder is lin

115 Previously, we described subjects with dominantly inherited elevated basal serum tryptase level

116 to the yeast Saccharomyces cerevisiae, is a dominantly inherited, epigenetic modifier of phenotypes.

117 ecent advances is the elucidation of several dominantly inherited epilepsies caused by mutations of b

118 Cu/Zn superoxide dismutase (SOD1) gene cause dominantly inherited familial amyotrophic lateral sclero

119 Birt-Hogg-Dube (BHD) syndrome, is a dominantly inherited familial cancer syndrome associated

120 We studied a new kindred with autosomal dominantly inherited familial erythrocytosis.

121 iated protein B (VAPB; VAPBP56S) causes some dominantly inherited familial forms of motor neuron dise

122 tein-associated protein B (VAPB) causes some dominantly inherited familial forms of motor neuron dise

123 Hippel-Lindau (VHL) gene mutations underlie dominantly inherited familial VHL tumor syndrome compris

124 von Hippel-Lindau (VHL) disease is a dominantly inherited family cancer syndrome characterize

125 mans and a null mutation in mice result in a dominantly-inherited fatal cardiac arrhythmia initially

126 hat T118M is a pathogenic mutation causing a dominantly inherited form of CMT by a partial loss of PM

127 s a culprit gene product for a monogenic and dominantly inherited form of diabetes, known as maturity

128 eloped a genome-editing approach to target a dominantly inherited form of genetic deafness.

129 was well described and is responsible for a dominantly inherited form of human focal segmental glome

130 White sponge nevus (WSN) is an autosomal-dominantly inherited form of mucosal leukokeratosis.

131 , and increased gene dosage causes a severe, dominantly inherited form of PD, but we know little abou

132 dentify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combine

133 enabled the dissection of several autosomal dominantly inherited forms of cerebrovascular disorders.

134 A lesson from dominantly inherited forms of diverse neurodegenerative

135 s in MSX1 and PAX9 have been associated with dominantly inherited forms of human tooth agenesis that

136 Mutations in these genes usually lead to dominantly inherited forms of osteogenesis imperfecta (O

137 ons in the TARDBP gene encoding TDP-43 cause dominantly inherited forms of this condition.

138 s with neurodegenerative disease, especially dominantly inherited forms.

139 Linkage analysis demonstrates that dominantly inherited, fully penetrant VWD is present in

140 as identified in a small Italian family with dominantly inherited generalized epilepsy with febrile s

141 is type 1 (NF1) is one of the most prevalent dominantly inherited genetic diseases of the nervous sys

142 o 20% of apparently de novo cases of several dominantly inherited genetic diseases.

143 This dominantly inherited genetic trait is known as lactase p

144 me (EDS) type I (the classical variety) is a dominantly inherited, genetically heterogeneous connecti

145 nd characterized to date are associated with dominantly inherited germ line mutations in the tumor su

146 Lynch syndrome is caused by dominantly inherited germline mutations that predispose

147 Familial prion diseases are due to dominantly inherited, germline mutations in the PRNP gen

148 Dominantly inherited GJB2 mutations, including the p.Gly

149 Dominantly inherited guanosine triphosphate (GTP)-cycloh

150 derived from point mutations associated with dominantly inherited hearing loss, either non-syndromic

151 ele, suggesting COL11A1 as a locus for mild, dominantly inherited hearing loss.

152 d hereditary stomatocytosis (OHSt) is a rare dominantly inherited hemolytic anemia characterized by a

153 We identified 11 human pedigrees with dominantly inherited hemolytic anemias in both the hered

154 ty of cases result from de novo or autosomal dominantly inherited heterozygous mutations in ELA2, enc

155 Dominantly inherited heterozygous mutations were associa

156 autoimmune diabetes with features similar to dominantly inherited HNF1A-diabetes.

157 on in a patient suffering from the autosomal dominantly inherited HSP variant SPG31.

158 es modifying thyroid tumor penetrance in the dominantly inherited human cancer syndrome.

159 Monoallelic TRPS1 mutations cause two dominantly inherited human developmental disorders of th

160 In contrast to the dominantly inherited human form of ACTN4-associated FSGS

161 Hand-foot-genital syndrome, a rare dominantly inherited human malformation syndrome charact

162 mann-Straussler-Scheinker (GSS) disease is a dominantly inherited, human prion disease caused by a mu

163 identify the genetic defect in a family with dominantly inherited hyperinsulinism affecting five indi

164 Epidermolytic hyperkeratosis is a dominantly inherited ichthyosis, frequently associated w

165 ant ankB mutation or deficiency results in a dominantly inherited impairment in selected communicativ

166 2), are recessively inherited, some cases of dominantly inherited inactivating mutations have been re

167 encing was performed in a family affected by dominantly inherited inflammatory disease characterized

168 Mutations in ferroportin, however, result in dominantly inherited iron overload.

169 s study unveils the involvement of POU1F1 in dominantly inherited isolated GH deficiency and demonstr

170 Dominantly inherited isolated polycystic liver disease (

171 targardt-like macular dystrophy (STGD3) is a dominantly inherited juvenile macular degeneration that

172 Unlike recessive mutations, dominantly inherited KATP mutant subunits trafficked nor

173 characterized 16 families with 14 different dominantly inherited KATP mutations, including a total o

174 ruited a large French-Canadian family with a dominantly inherited late-onset painful sensory neuropat

175 We describe here a previously unknown, dominantly inherited, late-onset basal ganglia disease,

176 In humans, mutations in HOXD13 cause the dominantly inherited limb malformation synpolydactyly (S

177 el mutations are responsible for one form of dominantly inherited long QT syndrome (LQT).

178 , GJA4, and GJC2 in a group of families with dominantly inherited lymphedema, we identified six proba

179 ancer occurs in the context of the autosomal dominantly inherited Lynch syndrome, which is due to mut

180 pedigree with 5 individuals affected with a dominantly inherited macrothrombocytopenia.

181 Best vitelliform macular dystrophy (BVMD), a dominantly inherited macular degeneration characterized

182 Malattia leventinese (ML) is a dominantly inherited macular degenerative disease charac

183 itance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is c

184 would contribute in an important way to the dominantly inherited membrane depolarization, action pot

185 Several dominantly inherited missense mutations have been identi

186 ular dystrophy type 1D (LGMD1D) is caused by dominantly inherited missense mutations in DNAJB6, an Hs

187 order of the neuromuscular synapse caused by dominantly inherited missense mutations in genes that en

188 uman autosomal dominant (AD) RP is caused by dominantly inherited missense mutations in the rhodopsin

189 cot-Marie-Tooth disease type 1C (CMT1C) is a dominantly inherited motor and sensory neuropathy.

190 missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evide

191 Most cases of this dominantly inherited movement disorder are caused by del

192 Early onset (DYT1) torsion dystonia is a dominantly inherited movement disorder associated with a

193 One example is DYT1 dystonia, a dominantly inherited movement disorder characterized by

194 Most cases of the dominantly inherited movement disorder, early onset tors

195 e is possibly one of the commonest autosomal dominantly inherited multi-system diseases affecting the

196 a de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder

197 Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the

198 eature of von Hippel-Lindau (VHL) disease, a dominantly inherited multisystem familial cancer syndrom

199 Acrodysostosis is a dominantly-inherited, multisystem disorder characterized

200 nase gene was more difficult because DM is a dominantly inherited multisystemic disorder in which the

201 .643_663del21 deletion in CAPN3 results in a dominantly inherited muscle disease.

202 Here, we report the identification of a dominantly inherited mutation in the Gardos channel in 2

203 Dominantly inherited mutations cause less severe disease

204 Dominantly inherited mutations had prominent clinical va

205 Dominantly inherited mutations in ACTN4, which encodes a

206 Dominantly inherited mutations in alpha-synuclein cause

207 Dominantly inherited mutations in an endoplasmic reticul

208 Distinct dominantly inherited mutations in Cx31 cause the skin di

209 Dominantly inherited mutations in leucine-rich repeat ki

210 Dominantly inherited mutations in leucine-rich repeat ki

211 Dominantly inherited mutations in MAPT, the gene that en

212 Dominantly inherited mutations in the genes encoding pre

213 The mechanism by which dominantly inherited mutations in the housekeeping gene

214 Dominantly inherited mutations in the TRPM4 gene are ass

215 Most cases are caused by dominantly inherited mutations or deletions of the PAX6

216 he G/F domain of DNAJB6 are a novel cause of dominantly-inherited myopathy.

217 same mutation in humans (rs80356664) causes dominantly inherited neonatal diabetes.

218 type in a large African American family with dominantly inherited nephropathy characterized by ESRD,

219 Huntington disease is a dominantly inherited neurodegenerative condition caused

220 n of survival in an animal model of a fatal, dominantly inherited neurodegenerative condition using R

221 Huntington disease (HD) is a dominantly inherited neurodegenerative disease caused by

222 llar ataxia type 1 (SCA1) is an adult-onset, dominantly inherited neurodegenerative disease caused by

223 Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by

224 Spinocerebellar ataxia type 1 (SCA1) is a dominantly inherited neurodegenerative disease caused by

225 Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by

226 Huntington's disease is a dominantly inherited neurodegenerative disease caused by

227 Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by

228 Huntington's disease (HD) is a dominantly inherited neurodegenerative disease.

229 Nine dominantly inherited neurodegenerative diseases are caus

230 rebellar ataxia type 1 (SCA1) is one of nine dominantly inherited neurodegenerative diseases caused b

231 rebellar ataxia type 17 (SCA17), one of nine dominantly inherited neurodegenerative diseases caused b

232 Polyglutamine diseases are dominantly inherited neurodegenerative diseases caused b

233 In the case of dominantly inherited neurodegenerative diseases, gene su

234 nt pathological feature in diverse models of dominantly inherited neurodegenerative diseases.

235 Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases.

236 Huntington disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused b

237 Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disorder caused b

238 Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused b

239 Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused b

240 Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused b

241 Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused b

242 Huntington's disease (HD) is a fatal dominantly inherited neurodegenerative disorder caused b

243 r ataxia type 17 (SCA17) is a rare autosomal dominantly inherited neurodegenerative disorder presenti

244 hat an untranslated CTG expansion causes the dominantly inherited neurodegenerative disorder spinocer

245 Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that is

246 Huntington disease (HD) is a dominantly inherited neurodegenerative disorder that res

247 olyglutamine (polyQ) diseases are a class of dominantly inherited neurodegenerative disorders caused

248 Polyglutamine diseases are a class of dominantly inherited neurodegenerative disorders for whi

249 ually invoked to explain the pathogenesis of dominantly inherited neurodegenerative disorders.

250 ebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited, neurodegenerative disease caused b

251 Dystonia type 1 (DYT1) is a dominantly inherited neurological disease caused by muta

252 tential of siRNA for DYT1 dystonia and other dominantly inherited neurological diseases.

253 Some dominantly inherited neurological disorders are associat

254 isease mechanism has emerged from studies on dominantly inherited neurological disorders caused by un

255 Repeat expansions cause dominantly inherited neurological disorders.

256 Myotonic dystrophy type 1 (DM1) is a dominantly inherited neuromuscular disorder resulting fr

257 Mutations in GARS cause dominantly inherited neuropathies in humans.

258 ort on two affected members of a family with dominantly inherited neuropathy of both optic and audito

259 report of a mutation in WFS1 associated with dominantly inherited nonsyndromic adult-onset diabetes.

260 exome sequencing in four families exhibiting dominantly inherited otosclerosis to identify 23 candida

261 Multiplication of the SNCA gene locus causes dominantly inherited Parkinson's disease (PD), and alpha

262 clein and LRRK2, two gene products linked to dominantly inherited Parkinson's disease.

263 s in 10 families, our study indicates that a dominantly inherited pattern of calpainopathy exists, an

264 proteins, which are encoded by two autosomal dominantly inherited PD-related genes.

265 Since the dominantly inherited phenotype is generally milder than

266 mammalian protein conformation disorders and dominantly inherited phenotypes in yeast.

267 r degeneration, followed by the discovery of dominantly inherited point mutations in TDP-43 in famili

268 Dominantly inherited polycystic kidney and liver disease

269 Dominantly inherited polyglutamine disorders are chronic

270 Hence, SOCS1 haploinsufficiency causes a dominantly inherited predisposition to early onset autoi

271 genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical

272 utations (V60L, D273Y, and G353R) that cause dominantly inherited progressive sensorineural hearing l

273 Huntington's disease (HD) is a dominantly inherited, progressive neurodegenerative dise

274 Huntington's disease (HD) is a dominantly inherited, progressive neurodegenerative diso

275 Genomic analysis of dominantly inherited, progressive sensorineural hearing

276 the approximately 10% of ALS cases that are dominantly inherited provide insight into ALS pathobiolo

277 r to distinguish it from most other forms of dominantly inherited recurrent corneal erosion reported

278 ited neonatal diabetes, craniosynostosis and dominantly inherited renal dysplasia using the Affymetri

279 photoreceptor gene RP1 lead to recessive or dominantly inherited retinitis pigmentosa (RP).

280 Thirteen patients had dominantly inherited RP presenting in adult life with a

281 esults in reduced expression of the gene, is dominantly inherited, segregates in families, and occurs

282 To investigate the role of connexins in dominantly inherited skin disease, transgenic mice were

283 Darier's disease is an autosomal dominantly inherited skin disorder characterized by loss

284 Darier's disease is an autosomal dominantly inherited skin disorder, characterized by los

285 The dominantly inherited spinocerebellar ataxias (SCA) are a

286 d molecular processes to the pathogenesis of dominantly inherited spinocerebellar ataxias and the cur

287 the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple cutaneou

288 p97/VCP (valosin-containing protein) cause a dominantly inherited syndrome of inclusion body myopathy

289 relate with aggregation propensity and cause dominantly inherited tauopathies, but their biophysical

290 -onset motor neuron disease that arises as a dominantly inherited trait in approximately 10% of ALS c

291 G2 and G3 progeny, consistent with a simple, dominantly inherited trait, but was never observed in no

292 ng causal mutations in nuclear families with dominantly inherited traits otherwise intractable by lin

293 ith associated cardiac failure and is due to dominantly inherited transthyretin mutations causing acc

294 mammals, and the human gene is implicated in dominantly inherited tricho-rhino-phalangeal (TRP) syndr

295 In neurofibromatosis type 2, a dominantly inherited tumor disease because of the loss o

296 tiple endocrine neoplasia type 1 (MEN1) is a dominantly inherited tumor syndrome that results from th

297 Neurofibromatosis type 2 (NF2), a dominantly inherited tumour disease, is also caused by l

298 amily of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia i

299 itary hemorrhagic telangiectasia 2 (HHT2), a dominantly inherited vascular disorder, and pulmonary hy

300 ly from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized d