ライフサイエンスコーパス: hereditary

1 Hereditary ALS is strongly associated with variants in t

2 ropose that this study reveals a new form of hereditary amyloidosis (AApoCII) that is derived from th

3 ysozyme amyloidosis (ALys) is a rare form of hereditary amyloidosis that typically manifests with ren

4 In both a hereditary and a xenograft mouse model of caspase-8-defi

5 Because of hereditary and acquired risk factors, renal transplant r

6 highly expressed in immune complexes from 16 hereditary and idiopathic PAH versus 12 control lungs.

7 ted associations, mimics and misdiagnoses of hereditary and inflammatory neuropathy and attempt to de

8 Distinguishing between hereditary and inflammatory neuropathy is usually straig

9 t possess unique characteristics compared to hereditary and sporadic cancer.

10 (TRP) ion channel C6 plays a pivotal role in hereditary and sporadic glomerular kidney disease.

11 fferences in the gene expression profiles of hereditary and sporadic MTCs.

12 tations in candidate genes in 547 additional hereditary and/or early-onset CRC cases (502 additional

13 at are believed to occur in cases of various hereditary anemias and during blood storage.

14 Hereditary angio-oedema (HAE) with normal C1 inhibitor i

15 inically relevant reductions in frequency of hereditary angio-oedema attacks and was well tolerated.

16 Hereditary angio-oedema is a recurrent, oedematous disor

17 ficacy endpoint was the number of attacks of hereditary angio-oedema observed in each 4 week treatmen

18 The mean number of attacks of hereditary angio-oedema over 4 weeks was significantly r

19 mal and a history of four or more attacks of hereditary angio-oedema per month for at least 3 months

20 rived C1 esterase inhibitor deter attacks of hereditary angio-oedema, but the prophylactic effect of

21 man C1 esterase inhibitor for prophylaxis of hereditary angio-oedema.

22 Hereditary angioedema (HAE) caused by a deficiency of fu

23 ons in Factor XII (FXII) are associated with hereditary angioedema (HAE) in the presence of normal C1

24 Hereditary angioedema (HAE) is a rare genetic disease us

25 Hereditary angioedema (HAE) with normal C1-INH (HAEnCI)

26 inhibitor under development for treatment of hereditary angioedema (HAE).

27 with placebo, reduced the rate of attacks of hereditary angioedema (mean difference with 40 IU, -2.42

28 Because attacks of hereditary angioedema can be related to infection and/or

29 ited edematous attack (EA) in a patient with hereditary angioedema due to C1-INH deficiency to better

30 Hereditary angioedema is a disabling, potentially fatal

31 hibitor (rhC1INH) for on-demand treatment of hereditary angioedema is purified from milk of transgeni

32 MeSH terms angioedema, acquired angioedema, hereditary angioedema type III, and angiotensin converti

33 tients with chronic spontaneous urticaria or hereditary angioedema were repeatedly asked to complete

34 us CSL830 in patients with type I or type II hereditary angioedema who had had four or more attacks i

35 Hereditary angioedema with a mutation in the PLG gene is

36 The consensus documents published to date on hereditary angioedema with C1 inhibitor deficiency (C1-I

37 Hereditary angioedema with C1 inhibitor deficiency (C1-I

38 Hereditary angioedema with C1 inhibitor deficiency is ch

39 ministration of lanadelumab to patients with hereditary angioedema with C1 inhibitor deficiency reduc

40 eight kininogen in plasma from patients with hereditary angioedema with C1 inhibitor deficiency to le

41 Patients with hereditary angioedema with C1 inhibitor deficiency were

42 the potential for prophylactic treatment of hereditary angioedema with C1 inhibitor deficiency.

43 Hereditary angioedema with normal C1 esterase inhibitor

44 Hereditary angioedema with normal C1 inhibitor levels (H

45 s of hereditary angioedema, but particularly hereditary angioedema with normal C1 inhibitor with a fa

46 hophysiology of the disease remains unknown (hereditary angioedema with yet unknown genetic defect [U

47 ource for plasmin generation in all types of hereditary angioedema, but particularly hereditary angio

48 In patients with hereditary angioedema, the prophylactic use of a subcuta

49 culation, and to treat the swelling disorder hereditary angioedema.

50 bant is approved for treatment of attacks of hereditary angioedema.

51 driven bioinformatics; this in turn has made hereditary ataxias an especially well-developed model gr

52 cal characteristics, it was later focused on hereditary ataxias.

53 ver gene (MEFV or pyrin) are associated with hereditary autoinflammatory disease and severe IBD.

54 A common form of hereditary autosomal dominant demyelinating neuropathy k

55 which together constitute a leading cause of hereditary blindness worldwide, are largely untreatable.

56 d junctional epidermolysis bullosa, a lethal hereditary blistering disorder, is usually treated by pa

57 ollagen triple helix results in the dominant hereditary bone disorder osteogenesis imperfecta.

58 sposition genes that result in a syndrome of hereditary breast and ovarian cancer (HBOC).

59 h MSH6 and PMS2 mutations may present with a hereditary breast and ovarian cancer phenotype.

60 Hereditary breast and ovarian cancer syndrome (HBOC) is

61 Hereditary breast and ovarian cancer syndrome carries si

62 pected hereditary PCA, BRCA1/2 for suspected hereditary breast and ovarian cancer, and DNA mismatch r

63 The FANCJ DNA helicase is linked to hereditary breast and ovarian cancers as well as bone ma

64 factor important in meiosis, associated with hereditary breast cancer (p = 0.018) and likely represen

65 pective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH).

66 utations, identified in 189 Northern Finnish hereditary breast cancer patients in parallel sequencing

67 have also been identified and contribute to hereditary breast cancer syndromes.

68 ffect its structure-function relationship in hereditary breast cancer.

69 as identified as a mediator of the effect of hereditary CAA on cortical atrophy, accounting for 63% o

70 2 (MEN 2) syndrome is an autosomal dominant, hereditary cancer disorder caused by germline mutations

71 , and a variant of uncertain significance on hereditary cancer genetic testing (OR, 3.24; 95% CI, 1.0

72 testing of cancer predisposition genes with hereditary cancer multigene panels.

73 genes, in individuals who met guidelines for hereditary cancer risk evaluation.

74 ts with germline mutations associated with a hereditary cancer syndrome (51%) reported a CRC diagnosi

75 quencing, 79 had mutations associated with a hereditary cancer syndrome and 21 had variants of uncert

76 cycle enzyme fumarate hydratase (FH) cause a hereditary cancer syndrome known as hereditary leiomyoma

77 Hereditary cancer syndromes infer high cancer risks and

78 now have a good opportunity to better define hereditary cancer syndromes with associated hematologic

79 e introduction of genomic technologies, more hereditary cancer syndromes with hematologic malignancie

80 mline variants in other genes from multigene hereditary cancer testing panels is not well defined.

81 s of the MRN complex subunit MRE11 cause the hereditary cancer-susceptibility disease ataxia-telangie

82 s with large effect sizes, 3 common forms of hereditary cardiomyopathies are discussed as prototypic

83 nding metavinculin mutations associated with hereditary cardiomyopathies.

84 anisms behind how titin gene mutations cause hereditary cardiomyopathy and how titin protein is mecha

85 se mutations explain </=30% of patients with hereditary cases and only 20% of patients with sporadic

86 A variety of hereditary causes are recognised, including spinal muscu

87 ue to Marfan syndrome, idiopathic causes, or hereditary causes than in patients being treated for aph

88 Moreover, proAVP misfolding in hereditary central diabetes insipidus likely shares comm

89 We tested this hypothesis in patients with hereditary cerebral haemorrhage with amyloidosis-Dutch t

90 Hereditary cerebral haemorrhage with amyloidosis-Dutch t

91 mor and rabbit syndrome, paroxysmal tremors (hereditary chin tremor, bilateral high-frequency synchro

92 wo times more common in the combined Finnish hereditary cohort compared to controls.

93 ldelta) and varepsilon (Polvarepsilon) cause hereditary colorectal cancer (CRC) and have been found i

94 is an autoimmune liver disease with a strong hereditary component.

95 urs may occur sporadically or as part of the hereditary condition neurofibromatosis Type 2 (NF2).

96 In 1927 Guido Fanconi described a hereditary condition presenting panmyelopathy accompanie

97 formed on cohorts with disease suggestive of hereditary CRC and population-based CRC and endometrial

98 swapping and causes a fatal amyloid disease, hereditary cystatin C amyloid angiopathy.

99 Hereditary defects of coenzyme Q10 biosynthesis cause st

100 cal mechanisms with proinsulin misfolding in hereditary diabetes mellitus of youth.

101 rectomy at our institution for patients with hereditary diffuse gastric cancer (HDGC).

102 osaicism or chimerism, may confer benefit in hereditary diffuse leukoencephalopathy with axonal spher

103 sequencing in five members of a family with hereditary diffuse leukoencephalopathy with axonal spher

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

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

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

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

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

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

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

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

112 atrophy is an untreatable potentially fatal hereditary disorder caused by loss-of-function mutations

113 Congenital muscular dystrophies are hereditary disorders characterized by hypotonia and weak

114 Single-gene disorders may cause rare, hereditary disorders for which stroke is a primary manif

115 re for identifying loci associated with rare hereditary disorders using Bayesian model comparison.

116 nfected RBCs (Pf-RBCs) and defective RBCs in hereditary disorders, such as spherocytosis and elliptoc

117 ith polyclonal hematopoiesis might represent hereditary disorders.

118 ereas iron excess is usually associated with hereditary disorders.

119 FA is a hereditary DNA-repair disorder characterized by various

120 AFLD), non-alcoholic steatohepatitis (NASH), hereditary dyslipidaemia, or cryptogenic cirrhosis.

121 itial nephritis, is the most common cause of hereditary end-stage renal disease in the first three de

122 Congenital hereditary endothelial dystrophy 1 (CHED1) and posterior

123 Hereditary epidermolysis bullosa (EB) is associated with

124 C, MUTYH, POLE, POLD1, and NTHL1, although a hereditary etiology is likely.

125 ly resemble AEPVM, necessitating medical and hereditary evaluation to exclude these clinical possibil

126 d States, the possible genetic and ancestral hereditary explanations for these associations are confo

127 tified (34.5%) whereas other causes included hereditary factors (4%), intrauterine factors (2.0%) and

128 Hereditary factors play a role in the development of PDA

129 Purpose Hereditary factors play an important role in colorectal

130 The first case of hereditary fibrinogen Aalpha-chain amyloidosis was recog

131 In the United States, the hereditary form disproportionately afflicts black Americ

132 Here, we report a hereditary form of DSPD associated with a dominant codin

133 e chemotactic factor 2 amyloidosis, but rare hereditary forms can also involve the kidneys.

134 nd multiple myosin genes are associated with hereditary forms of deafness.

135 Hereditary forms of FSGS have been linked to mutations i

136 Hereditary forms of Wilms arise from developmentally arr

137 Human hereditary gain- or loss-of-pain disorders have demonstr

138 Hereditary gingival fibromatosis (HGF) is the most commo

139 Haemophilia A and B are hereditary haemorrhagic disorders characterised by defic

140 Hereditary head and neck paragangliomas (HNP) are very o

141 est choices to identify the genetic cause in hereditary hearing loss families.

142 tential for treating GJB2 and other forms of hereditary hearing loss with ACEMg, we tested the influe

143 s accounts for approximately 20% of cases of hereditary hearing loss.

144 d interpretation of variants associated with hereditary hematologic malignancies, including the impor

145 ssical ferroportin disease (FD) is a form of hereditary hemochromatosis caused by mutations in the ir

146 Hereditary hemochromatosis is a heterogeneous group of g

147 of morbidity and mortality in patients with hereditary hemochromatosis, but the precise mechanisms l

148 osition in several organs similar to classic hereditary hemochromatosis.

149 d by deregulation of TGF-beta/BMP signaling: hereditary hemorrhagic telangiectasia (HHT) and cerebral

150 Hereditary hemorrhagic telangiectasia (HHT) is a highly

151 Hereditary hemorrhagic telangiectasia (HHT) is a potenti

152 eceptor-like kinase 1 (ALK1; ACVRL1), causes hereditary hemorrhagic telangiectasia (HHT).

153 most frequent and disabling manifestation of hereditary hemorrhagic telangiectasia (HHT).

154 y affecting quality of life in patients with hereditary hemorrhagic telangiectasia (HHT; also known a

155 -confirmed PAVMs (including 403 [90.5%] with hereditary hemorrhagic telangiectasia) were recruited to

156 pective study, 103 patients transplanted for hereditary HLH (2000-2013) and DC permanently or transie

157 -5' exoribonucleases have been implicated in hereditary human diseases.

158 ulmonary arterial hypertension (PAH) that is hereditary, idiopathic, or associated with other conditi

159 ith similar pathological features, including hereditary inclusion body myopathy (hIBM) and limb-girdl

160 Multiple hereditary infundibulocystic basal cell carcinoma syndro

161 elopment of broadly effective treatments for hereditary iron overload disorders.

162 megalic interstitial nephritis (KIN), a rare hereditary kidney disease characterized by chronic renal

163 lowed by socioeconomic stress with increased hereditary land sales, and the issuance of priestly decr

164 For societies with writing systems, hereditary leadership is documented as one of the hallma

165 cause a hereditary cancer syndrome known as hereditary leiomyomatosis and renal cell cancer (HLRCC).

166 the familial cancer predisposition syndrome hereditary leiomyomatosis and renal cell cancer.

167 ial gateways for the autologous treatment of hereditary liver diseases, which may likely reduce the r

168 in genes encoding either transporter induce hereditary manganese toxicity.

169 es complete elimination of the sperm-derived hereditary material in the jewel wasp Nasonia vitripenni

170 Hereditary mixed polyposis syndrome is a rare colon canc

171 Expansion of the hereditary mixed polyposis syndrome phenotype can inform

172 the fastest retinal iron accumulation of any hereditary model studied to date.

173 several neurodegenerative diseases including hereditary motor and sensory neuropathy with proximal do

174 s such as Charcot-Marie-Tooth type-2, distal hereditary motor neuropathies, spinal muscular atrophy w

175 Marie Tooth Disease type 2 (CMT-2) or distal hereditary motor neuropathy (dHMN).

176 S as a gene whose mutations may cause distal hereditary motor neuropathy and alter canonical and non-

177 d, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial

178 from Australian, European, and Korean distal hereditary motor neuropathy families identified the same

179 ancestries and one additional Belgian distal hereditary motor neuropathy family of Caucasian origin.

180 ese family with an autosomal dominant distal hereditary motor neuropathy in which mutations in common

181 Distal hereditary motor neuropathy is a heterogeneous group of

182 evious findings in autosomal dominant distal hereditary motor neuropathy of a dominant-negative frame

183 he same mutation in another Taiwanese distal hereditary motor neuropathy pedigree with different ance

184 east 15 genes have been implicated in distal hereditary motor neuropathy, the genetic causes remain e

185 dentify an additional causal gene for distal hereditary motor neuropathy, we performed exome sequenci

186 uropathy in which mutations in common distal hereditary motor neuropathy-implicated genes had been ex

187 e cytosolic domain leads to a form of distal hereditary motor neuropathy.

188 and several high-profile attempts to prevent hereditary mtDNA disease through mitochondrial replaceme

189 Dogs with X-linked hereditary nephropathy (XLHN) have a glomerular basement

190 er and its mutation is an important cause of hereditary nephrotic syndrome.

191 mutation on this surface (E326K) causes the hereditary neuro-developmental disorder, MCSZ.

192 utations are responsible for the majority of hereditary neuroblastoma and somatic ALK activating muta

193 Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity rangi

194 Chorea-acanthocytosis is one of the hereditary neurodegenerative disorders known as the neur

195 These data may explain why hereditary neuropathies associated with decreased lamini

196 advances in our understanding of rare human hereditary neuropathies, peripheral nervous system tumor

197 ismatch repair genes cause Lynch syndrome or hereditary non-polyposis colorectal cancer and 10-40% of

198 We identified 8 (8.4%) patients with hereditary NS and 5 (5%) patients with probably genetica

199 No patients from hereditary NS group had NS recurrence after transplantat

200 Considering the clinical results, hereditary NS patients presented a tendency to early dis

201 the total number of genes suspected to cause hereditary OC to 11.

202 %), compressive optic neuropathy (18.7%) and hereditary optic neuropathy (18.7%).

203 hondrial optic neuropathies, such as Leber's hereditary optic neuropathy (LHON) and Autosomal dominan

204 Leber's hereditary optic neuropathy (LHON) is the most common mi

205 Leber's hereditary optic neuropathy (LHON) is the most common mi

206 Leber's hereditary optic neuropathy (LHON) is typically characte

207 To illustrate the natural history of Leber's hereditary optic neuropathy (LHON).

208 444,500,730F)-P1ND4v2 in patients with Leber hereditary optic neuropathy (LHON).

209 The disease can be hereditary or acquired and develops at any stage of life

210 Multiple human diseases ensue from a hereditary or acquired deficiency of iron-transporting p

211 ons in sickle cell disease and other chronic hereditary or acquired hemolytic anemias.

212 Of the 17 eyes were reviewed, 6 (35%) had hereditary or idiopathic ectopia lentis, 5 (29%) had Mar

213 vating mutations lead to obesity in Albright hereditary osteodystrophy (AHO) patients, but only when

214 Germline mutation of BRCA2 induces hereditary pancreatic cancer.

215 Mutations in PRSS1 cause hereditary pancreatitis by altering cleavage of regulato

216 ivation, mutations in PRSS2 are not found in hereditary pancreatitis suggesting that activation of th

217 lack of association of PRSS2 mutations with hereditary pancreatitis.

218 K6 genes are responsible for the majority of hereditary Parkinson's disease cases.

219 Hereditary Parkinson's disease is commonly caused by mut

220 trong consensus to test HOXB13 for suspected hereditary PCA, BRCA1/2 for suspected hereditary breast

221 Charcot-Marie-Tooth disease is a group of hereditary peripheral neuropathies that share clinical c

222 ustrated by the large number of acquired and hereditary peripheral neuropathies, such as diabetic neu

223 in protein 22 (PMP22) and is the most common hereditary peripheral neuropathy.

224 For example, in hereditary persistence of fetal hemoglobin (HPFH), a ben

225 127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma.

226 The expanding etiology for hereditary pheochromocytomas and paragangliomas has rece

227 onsiveness to initial IIS and detection of a hereditary podocytopathy are prognostic indicators of fa

228 ng the spectrum of cancers linked to various hereditary predisposition syndromes and can be leveraged

229 ed phenotypes in a transgenic mouse model of hereditary primary open-angle glaucoma.

230 rt of this variation (approximately 36.0% in hereditary probands).

231 Importance: The hereditary progressive ataxias comprise genetic disorder

232 Hereditary retinal degenerations encompass a group of ge

233 Retinitis Pigmentosa is a group of hereditary retinal dystrophy disorders associated with p

234 se X-linked juvenile retinoschisis (XLRS), a hereditary retinal dystrophy.

235 allergy by age 1 year in infants who are at hereditary risk of allergic disease and had no eczema sy

236 idence for a biological mechanism underlying hereditary risk of HD-ALL at 10q21.2.

237 of IgE-mediated egg allergy in infants with hereditary risk, but without eczema.

238 This information about hereditary risks of cancers may be helpful in patient ed

239 yndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations o

240 Hereditary sensory and autonomic neuropathies are a grou

241 Moreover, in hereditary sensory and autonomic neuropathies.

242 Hereditary sensory and autonomic neuropathy type III, or

243 nit 5 (CCT5), which has been associated with hereditary sensory neuropathy.

244 rs such as hereditary spastic paraplegia and hereditary sensory neuropathy.

245 mutations in POLR3A are a frequent cause of hereditary spastic ataxias, accounting for about 3% of h

246 ent form of autosomal recessive (AR) complex hereditary spastic paraplegia (HSP) and juvenile onset a

247 Hereditary spastic paraplegia (HSP) is a neurological sy

248 in any of its four subunits cause a form of hereditary spastic paraplegia (HSP) with intellectual di

249 ions in spastin, strumpellin, or REEP1 cause hereditary spastic paraplegia (HSP), a disease character

250 in ATL cause an unbranched ER morphology and hereditary spastic paraplegia (HSP), a neurodegenerative

251 Mutations of various genes cause hereditary spastic paraplegia (HSP), a neurological dise

252 mbranes, cause an axon degenerative disease, hereditary spastic paraplegia (HSP).

253 ective strain produces similar phenotypes of hereditary spastic paraplegia (mitochondrial dysfunction

254 DHD1 and DDHD2 genes cause specific types of hereditary spastic paraplegia (SPG28 and SPG54, respecti

255 NT1, a gene encoding a later step, result in hereditary spastic paraplegia accompanied by intellectua

256 Next, we screened a cohort of hereditary spastic paraplegia and cerebellar ataxia case

257 introns of POLR3A to be a frequent cause of hereditary spastic paraplegia and cerebellar ataxia.

258 can result in neurological disorders such as hereditary spastic paraplegia and hereditary sensory neu

259 lateral sclerosis, infantile-onset ascending hereditary spastic paraplegia and juvenile primary later

260 The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in

261 t glutamylation is the main regulator of the hereditary spastic paraplegia microtubule severing enzym

262 ctural and functional defects of an atypical hereditary spastic paraplegia mutant, ATL1-F151S, that i

263 araplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous gr

264 gly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous gr

265 on, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation

266 tual disability syndrome, and three forms of hereditary spastic paraplegia, SPG11, SPG15 and SPG49 ca

267 trate the first causal treatment strategy in hereditary spastic paraplegia.

268 rotein spastin, is the chief gene mutated in hereditary spastic paraplegia.

269 uld be a good model system for understanding hereditary spastic paraplegia.

270 The hereditary spastic paraplegias (HSPs) are a rare and het

271 Hereditary spastic paraplegias (HSPs) are genetically dr

272 The hereditary spastic paraplegias (HSPs) are heterogeneous

273 Hereditary spastic paraplegias (HSPs; SPG1-76 plus other

274 atients with rare movement disorders such as hereditary spastic paraplegias and cerebellar ataxias re

275 The hereditary spastic paraplegias are a heterogeneous group

276 ng quantitative markers for diseases such as hereditary spherocytosis, thalassemia, and malaria.

277 ell disease, thalassemia, hemoglobin CC, and hereditary spherocytosis, where cellular dehydration may

278 A variety of mostly hereditary, structural, or electrical cardiac disorders

279 In contrast, it is unknown whether hereditary succession played a role in the early formati

280 defined African ancestry are associated with hereditary susceptibility for specific patterns of mamma

281 iterature describes Lynch syndrome (LS) as a hereditary syndrome leading to high risks of colorectal

282 x (TSC1/2) cause tuberous sclerosis (TSC), a hereditary syndrome with neurological symptoms and benig

283 ariant of beta2-microglobulin, D76N, causing hereditary systemic amyloidosis, have become particularl

284 -microglobulin (beta2-m) which is related to hereditary systemic amyloidosis.

285 human lysozyme linked with a rare but fatal hereditary systemic amyloidosis.

286 K2 mutations were associated with polyclonal hereditary thrombocytosis and triple-negative MPNs.

287 Whether hereditary thrombophilia interacts with traditional card

288 Hereditary thrombophilia is associated with a slightly i

289 Hereditary transthyretin amyloidosis (ATTR) is usually c

290 transplantation (LTx) has been performed for hereditary transthyretin amyloidosis (ATTR) since 1990.

291 H3 mutations in individuals with a suspected hereditary tumor syndrome.

292 ll metabolic pathway reprogramming, to treat hereditary tyrosinaemia type I in mice; rather than edit

293 delivery strategy to a mouse model of human hereditary tyrosinemia and show that the treatment gener

294 Hereditary tyrosinemia type 1 (HT1) is an autosomal rece

295 As a series of hereditary UGT1A1 mutations have been identified that ar

296 trypanosome EVs are organelles mediating non-hereditary virulence factor transfer and causing host er

297 mutation and the cancer genetic background (hereditary vs sporadic).

298 A synthetase (IARS) missense mutations cause hereditary weak calf syndrome.

299 uals from 9 kindreds referred with suspected hereditary xerocytosis (HX) and/or undiagnosed congenita

300 Mutations in PIEZO1 are the primary cause of hereditary xerocytosis, a clinically heterogeneous, domi