ライフサイエンスコーパス: X-linked

1 7, 78%), spanning 16 genes, none of which is X-linked.

2 Eighty CGD patients (71 males [88.7%], 59 X-linked [73.7%], median age 23.9 years [minimum, 16.6;

3 X-linked adrenoleukodystrophy (ALD) is a devastating inh

4 X-linked adrenoleukodystrophy (ALD) may switch phenotype

5 usion tensor imaging (DTI), in children with X-linked adrenoleukodystrophy (X-ALD) before and after h

6 Cerebral X-linked adrenoleukodystrophy is a devastating neurodege

7 The adult cerebral inflammatory form of X-linked adrenoleukodystrophy is a rapidly progressive n

8 enomyeloneuropathy is the late-onset form of X-linked adrenoleukodystrophy, and is considered the mos

9 In X-linked adrenoleukodystrophy, mutations in ABCD1 lead t

10 mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA).

11 s associated with the immunological disorder X-linked agammaglobulinemia (XLA).

12 e present the case of a 34-year-old man with X-linked agammaglobulinemia from Australia suffering fro

13 The X-linked AIFM1 gene encodes mitochondrial apoptosis-indu

14 4a5(+/-) females that exhibit a mild form of X-linked Alport syndrome due to mosaic deposition of col

15 Fanconi anemia (FA) is a recessive X-linked and autosomal genetic disease associated with b

16 Therefore, FD X-linked and CT may be variously involved in male and fe

17 pmental disorders (46 autosomal recessive, 2 X-linked, and 2 de novo) or in 7 previously proposed rec

18 associated with several autosomal dominant, X-linked, and mitochondrial genetic mutations that are a

19 NEMO is X-linked, and mutations in this gene result in Incontine

20 pha-thalassaemia/mental retardation syndrome X-linked (ATRX) and death-domain-associated protein (DAX

21 haliana Alpha Thalassemia-mental Retardation X-linked (ATRX) ortholog and show that ATRX is involved

22 The X-linked BCL-6 co-repressor (BCOR) gene encodes a key co

23 Mutations in the X-linked CDKL5 (cyclin-dependent kinase-like 5) gene hav

24 essive hypomorphic mutations, and an unusual X-linked cellular interference process have all been imp

25 Finally, we overcame X-linked cellular mosaicism in female RTT models and ide

26 Mutations in CYBB cause X-linked CGD and account for 65% to 70% of cases in West

27 clinical manifestations associated with the X-linked CGD carrier state.

28 +) value strongly predicts infection risk in X-linked CGD carriers, and the carrier state itself is a

29 olecular chaperone (Cosmc), which encodes an X-linked chaperone important for glycocalyx formation, w

30 X-linked Charcot-Marie-Tooth disease (CMT1X) is a common

31 gene of interest, GJB1, which is mutated in X-linked Charcot-Marie-Tooth Disease (CMT1X), was delive

32 Choroideremia (CHM) is an X-linked chorioretinal dystrophy that is caused by mutat

33 In HSPCs from patients with X-linked chronic granulomatous disease (X-CGD), caused b

34 oietic compartment in patients and mice with X-linked chronic granulomatous disease (X-CGD).

35 The most severe form, X-linked CNM, is caused by myotubularin 1 (MTM1) loss-of

36 X-linked cone dysfunction disorders such as Blue Cone Mo

37 disorders such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete lo

38 y (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD

39 The X-linked disease Barth syndrome (BTHS) is caused by muta

40 Spinobulbar muscular atrophy (SBMA) is an X-linked disease characterized by degeneration of motor

41 d 51.7% (15 of 29) of pathogenic variants in X-linked disease genes; both variants were de novo in 44

42 tosomal dominant disease, 25.4% (n = 17) had X-linked disease, and 67.2% (n = 45) had autosomal reces

43 Because adrenoleukodystrophy is an X-linked disease, the affected group populations of cALD

44 uncover the molecular cause of this possibly X-linked disease, we performed whole-exome sequencing of

45 es that could be potentially tapped to treat X-linked disease.

46 Duchenne muscular dystrophy (DMD) is a fatal X-linked disorder caused by mutations in the dystrophin

47 Fabry's disease, an X-linked disorder of lysosomal alpha-galactosidase defic

48 e muscular dystrophy (DMD) is a debilitating X-linked disorder that is fatal.

49 Duchenne muscular dystrophy (DMD) is an X-linked disorder with dystrophin loss that results in s

50 Previously, we reported a rare X-linked disorder, Uruguay syndrome in a single family.

51 t for a mixed modality approach for treating X-linked disorders in females.

52 equences revealed a substantial reduction of X-linked divergence times across several large recombina

53 Epilepsy is common in Rett syndrome, an X-linked dominant disorder caused by mutations in the ME

54 eficiency in Hyp mice, the murine homolog of X-linked dominant hypophosphatemic rickets, and transgen

55 ivation and mRNA studies illustrate how this X-linked dominant mutation in ALAS2 can perturb normal e

56 P falciparum parasites in the EPP phenocopy, X-linked dominant protoporphyria, which has elevated sub

57 ti (IP; MIM308300) is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of

58 (BDCS)-a cancer-prone genodermatosis with an X-linked, dominant inheritance pattern.

59 X) in erythropoietic protoporphyria (EPP) or X-linked-dominant protoporphyria (XLP) cause liver damag

60 n of sequence data from six individuals with X-linked dyskeratosis congenita caused by an unknown dis

61 X-linked dystonia-parkinsonism (XDP) is a neurodegenerat

62 Hypomorphic NEMO mutations result in X-linked ectodermal dysplasia with anhidrosis and immuno

63 d EDA2, that bind to EDA receptor (EDAR) and X-linked EDA receptor (XEDAR/EDA2R), respectively.

64 cripts originating at two CpG islands in the X-linked F8A3-TMLHE region, suggesting X chromosome regu

65 Fancb mutant mice, the first mouse model of X-linked FA, and identified a novel function of the FA p

66 cation of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(alpha-galactos

67 Interestingly, in a model for the dominant X-linked form of Charcot-Marie-Tooth type 1 neuropathy,

68 chenne muscular dystrophy (DMD), a recessive X-linked form of muscular dystrophy.

69 The most severe and often fatal X-linked form of myotubular myopathy (XLMTM) is caused b

70 ions involving PIH1D3 are responsible for an X-linked form of PCD causing disruption of early axonema

71 X-linked forms of retinitis pigmentosa (XLRP) are relati

72 sm spectrum disorder due to silencing of the X-linked, fragile-X mental retardation-1 (FMR1) gene.

73 Yet, in African Americans, the X-linked G6PD G202A variant (T-allele frequency 11%) was

74 g X-chromosome inactivation, which equalizes X-linked gene dosage between male and female mammals.

75 Mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeC

76 mine neurons, suggesting tight regulation of X-linked gene expression to ensure sexual congruency.

77 K20me1 enrichment in somatic cells, elevates X-linked gene expression, reduces X chromosome compactio

78 ocalization of chromosomes as they relate to X-linked gene expression.

79 ously identified a rare microdeletion of the X-linked gene GLRA2, encoding the GlyR alpha2 subunit, i

80 Loss-of-function mutations in the X-linked gene Methyl-CpG-binding protein 2 (MECP2) cause

81 Mutations in the X-linked gene Protocadherin-19 (Pcdh19) cause female-lim

82 No X-linked gene reactivation is seen after Firre knockdown

83 at ectopic Xist RNA induction and subsequent X-linked gene silencing is sex specific in embryos and i

84 To test the impact of Xist RNA on X-linked gene silencing, we ectopically induced endogeno

85 ctivates Xist and, separately, helps trigger X-linked gene silencing.

86 her the spread of a recessive mutation in an X-linked gene that is beneficial to males or a partially

87 female reset cells, appearance of biallelic X-linked gene transcription indicates reactivation of th

88 Germline mutations in the X-linked gene, methyl-CpG-binding protein 2 (MECP2), und

89 es; papaya shows an unprecedented pattern of X-linked genes < autosomal genes < Y-linked genes.

90 how the expected pattern of Y-linked genes < X-linked genes < autosomal genes; papaya shows an unprec

91 inked transcripts are lacking for 10%-30% of X-linked genes [10-12].

92 es significant overexpression of hundreds of X-linked genes across multiple tissues.

93 of the male-specific lethal (MSL) complex to X-linked genes and modification of chromatin to increase

94 f X(DeltaTsix)Y cells to efficiently silence X-linked genes compared with X(DeltaTsix)X cells, despit

95 Also as expected, X-linked genes have a lesser degree of increase in gene

96 e almost complete Y Chromosome degeneration, X-linked genes have become twofold up-regulated, restori

97 Thus, some X-linked genes have minimal epigenetic memory in the inn

98 (lncRNA) is thought to catalyze silencing of X-linked genes in cis during X-chromosome inactivation,

99 the X chromosome to upregulate expression of X-linked genes in male flies.

100 sex chromosomes is coordinated regulation of X-linked genes in one sex.

101 These findings show that the expression of X-linked genes in the Drosophila testes reflects a balan

102 acterize this transcriptional suppression of X-linked genes in the male germline and its evolutionary

103 In contrast, the number of identified X-linked genes in which de novo mutations specifically c

104 riptional and chromatin features of inactive X-linked genes in WT and Eed (-/-) TSCs suggests that PR

105 d Xist RNA, only a subset of the inactivated X-linked genes is derepressed in Eed (-/-) TSCs.

106 s predicted, the maximal expression of human X-linked genes is much lower than that of genes on autos

107 ies have indicated that transcription of all X-linked genes is repressed by meiotic sex chromosome in

108 transpositions, we show that most endogenous X-linked genes, not just testis-specific ones, are trans

109 ains biased tissue of expression profiles of X-linked genes.

110 nsated for by gene-specific up-regulation of X-linked genes.

111 mosome where X-inactivation dictates RMAE of X-linked genes.

112 y mice and human patients with the very rare X-linked genetic condition Snyder-Robinson syndrome that

113 These results demonstrate that X-linked genetic defects leading to the complete inactiv

114 nne muscular dystrophy (DMD) is an incurable X-linked genetic disease that is caused by a mutation in

115 turbation of CL remodeling leads to the rare X-linked genetic disorder Barth syndrome, which shows di

116 ertility occurs in spite of an autosomal and X-linked genome that is mostly of D. simulans origin.

117 entified was a novel missense variant in the X-linked GRIA3 gene, which has been implicated in intell

118 It can accurately visualize autosomal and X-linked haplotypes from both outbred and consanguineous

119 tation in Eda, which caused a milder form of X-linked HED (XLHED), contained low levels of EDA capabl

120 1 (FHL1) are the causative factor of several X-linked hereditary myopathies that are collectively ter

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

122 e, we show that a young and rapidly evolving X-linked heterochromatin protein 1 (HP1) gene, HP1D2, pl

123 ial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or

124 rt somatic loss-of-function mutations in the X-linked histone H3K27me3 demethylase ubiquitously trans

125 igenetic modifiers have functionally-similar X-linked homologs whose deficiency is involved in ccRCC

126 X-linked hyper-IgM syndrome (XHIGM) is a primary immunod

127 nd (CD40L) expression or function results in X-linked hyper-immunoglobulin (Ig)M syndrome (X-HIGM), c

128 LAMP2 deficiency causes Danon's disease, an X-linked hypertrophic cardiomyopathy.

129 ns in the murine Eda (Tabby) phenocopy human X-linked hypohidrotic ectodermal dysplasia.

130 X-linked hypophosphatemia (XLH) is a skeletal disease ca

131 X-linked hypophosphatemia (XLH) is the most frequent for

132 of the protein alone and in complex with the X-linked IAP (XIAP)-BIR2-BIR3 domains.

133 F and inhibitor of apoptosis proteins (IAPs: X-linked IAP, cellular IAP1 and IAP2) regulate RIPK3 and

134 tein and is overly represented in males with X-linked ID (XLID).

135 analysis of female T cells revealed that the X-linked immunity genes CD40LG and CXCR3 are biallelical

136 B1a cell-deficient Bruton's tyrosine kinase x-linked immunity-deficient (BTK(xid)) mice than in thei

137 Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by microthromboc

138 Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder frequently associated

139 e bearing B16F10 melanoma tumors, but not in X-linked immunodeficiency mice (XID) harboring a BTK mut

140 colleagues reveal that individuals with the X-linked immunodeficiency Wiskott-Aldrich syndrome (WAS)

141 the genetic defect involved in a new form of X-linked immunodeficiency.

142 Here we test the role of X-linked incompatibilities in a rare exception to Haldan

143 However, we found no strong support for such X-linked incompatibilities.

144 rotein (RP) genes while <1% of patients with X-linked inheritance have been identified with mutations

145 features in affected males, consistent with X-linked inheritance.

146 CMT1X, an X-linked inherited neuropathy, is caused by mutations in

147 X-linked inhibitor of apoptosis (XIAP) is the most poten

148 udy identifies an unanticipated role for the X-linked inhibitor of apoptosis (XIAP) protein as a regu

149 The X-linked inhibitor of apoptosis (XIAP) protein has been

150 on was related to the antiapoptotic proteins X-linked inhibitor of apoptosis (XIAP), phospho-Akt (pAk

151 hibitor p27(Kip1) and antiapoptotic proteins X-linked inhibitor of apoptosis and B-cell lymphoma xl.

152 Apaf-1 and X-linked inhibitor of apoptosis protein (Xiap) mRNA were

153 along with negative regulation of NF-kappaB- X-linked inhibitor of apoptosis protein (XIAP) signaling

154 sely, biochemical interactions occur between x-linked inhibitor of apoptosis protein (XIAP), an E3 ub

155 of apoptosis proteins, including c-IAP1 and X-linked inhibitor of apoptosis protein (XIAP), are obli

156 inhibitor of apoptosis protein 1 (cIAP1) and X-linked inhibitor of apoptosis protein (XIAP).

157 ation, apoptosis-inducing factor, as well as X-linked inhibitor of apoptosis protein degradation, but

158 me maintenance genes 2-5, antiapoptotic gene X-linked inhibitor of apoptosis, and baculoviral IAP rep

159 on of p53 and caspase-3/-7 and inhibition of X-linked inhibitor of apoptosis.

160 t is mediated by the ubiquitination of XIAP (X-linked inhibitor of aptosis protein) by E6AP, subseque

161 the ubiquitination and degradation of XIAP (X-linked inhibitors of aptosis protein) by E6AP, which l

162 Here, we demonstrate that the X-linked inhibitory apoptosis protein (XIAP) associates

163 motes dauer arrest in part by repressing the X-linked ins-9 gene, which encodes a new agonist insulin

164 izygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic f

165 OGT (759G>T (p.L254F)) that segregates with X-linked intellectual disability (XLID) in an affected f

166 X-linked intellectual disability (XLID) is a clinically

167 tin ligase cause neurodevelopmental disorder X-linked intellectual disability (XLID).

168 d in brain, were recently described to cause X-linked intellectual disability and epilepsy.

169 We find that patients with X-linked intellectual disability caused by mutations in

170 o congenital lethal motor neuron disease and X-linked intellectual disability disorders, thus highlig

171 Mutations in KDM5C are an important cause of X-linked intellectual disability in males.

172 Here we show that the X-linked intellectual disability protein interleukin-1 r

173 me, cause Snyder-Robinson syndrome (SRS), an X-linked intellectual disability syndrome; however, litt

174 h a broad spectrum of genetic disorders with X-linked intellectual disability that are difficult to r

175 Involved in X-linked intellectual disability, OPHN1 has been reporte

176 dysregulation polyendocrinopathy enteropathy X-linked (IPEX) patients.

177 regulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, associated with aberrant FOXP3

178 regulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, which is caused by mutations i

179 Mutations in the RS1 gene cause X-linked juvenile retinoschisis (XLRS), a hereditary ret

180 X-linked juvenile retinoschisis (XLRS), a leading cause

181 alus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CC

182 The X-linked lethal Ogden syndrome was the first reported hu

183 In humans, DCX is a major genetic locus for X-linked lissencephaly.

184 The X-linked lncRNA Firre helps to position the inactive X c

185 Patients with X-linked lymphoproliferative (XLP) disease due to defici

186 T cells from patients with X-linked lymphoproliferative disease (XLP), who lack fun

187 Synergistic signalling is defective in X-linked lymphoproliferative disease (XLP1) NK cells ent

188 Furthermore, in X-linked lymphoproliferative disease patients, SAP defic

189 s the immunopathology of IM in boys with the X-linked lymphoproliferative disease trait, and as a chr

190 iver of two distinct inflammatory disorders, X-linked lymphoproliferative syndrome 2 (XLP-2) and very

191 Fabry disease is an X-linked lysosomal storage disease caused by deficient a

192 Fabry disease is an X-linked lysosomal storage disorder caused by alpha-gala

193 some primate lineages, polymorphisms in the X-linked M/LWS opsin gene have produced intraspecific va

194 encoding the enzyme are responsible for the X-linked, male lethal mouse mutations bare patches and s

195 We show that the X-linked MAPK phosphatase DUSP9 is upregulated in female

196 X-chromosome associations were detected and X-linked markers explained very little BD heritability.

197 frequentist statistical test procedures for X-linked markers that take both males and females into a

198 We describe here a boy with X-linked MECP2 deficiency-related syndrome due to a larg

199 lopmental disorder caused by mutation of the X-linked MECP2 gene and characterized by developmental r

200 Heterozygous mutations in the X-linked MECP2 gene cause the neurological disorder Rett

201 Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein

202 rological disorder caused by mutation of the X-linked MECP2 gene, which results in the progressive di

203 tic disorder resulting from mutations in the X-linked MECP2 gene.

204 ike 1 (CHRDL1) mutations cause non-syndromic X-linked megalocornea (XMC) characterized by enlarged an

205 n multiple pathological disorders, including X-linked mental retardation and tumorigenesis.

206 Our results show definitively that Type I X-linked miRNA genes are subject to MSCI, as are all or

207 X-linked mRNA genes, whereas Type II and III X-linked miRNA genes escape MSCI by continuing ongoing,

208 The fact that Type II and III X-linked miRNA genes escape MSCI suggests an immediacy o

209 , suggesting that the mechanism of escape of X-linked miRNA genes from MSCI involves their relocation

210 We also found that X-linked miRNA genes that escape MSCI locate non-randoml

211 n increase in steady-state levels of certain X-linked miRNAs in pachytene spermatocytes, suggesting t

212 mmunodeficiency that could be referred to as X-linked moesin-associated immunodeficiency.

213 In craniofrontonasal syndrome, X-linked mosaicism for ephrin-B1 expression has been hyp

214 nal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease due to a CAG triplet-repeat

215 enes are subject to MSCI, as are all or most X-linked mRNA genes, whereas Type II and III X-linked mi

216 er muscular dystrophy (BMD) is a progressive X-linked muscle wasting disease for which there is no tr

217 nne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease caused by mutations in t

218 ctively builds muscle and bone was tested in X-linked muscular dystrophy mice (mdx).

219 We isolated three dominant, X-linked mutants in the nuclear hormone receptor gene nh

220 15, IFNGR1, IFNGR2, STAT1, and IRF8) and two X-linked mutations (in IKBKG and CYBB), mostly presentin

221 ogenic disease, hundreds of mutations in the X-linked myelin gene proteolipid protein 1 (PLP1) have b

222 consanguinity of the study cohort, but also X-linked (n=8, 6%) and de novo dominant (n=19, 13%).

223 Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations

224 Rett syndrome (RTT) is an X-linked neurodevelopmental disorder in which the MECP2

225 scriptional regulator Mecp2 cause the severe X-linked neurodevelopmental disorder Rett syndrome (RTT)

226 Rett syndrome (RTT) is an X-linked neurodevelopmental disorder that is characteriz

227 Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder, characterized by n

228 the pathogenesis of Rett Syndrome (RTT), an X-linked neurodevelopmental disorder.

229 Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily b

230 Point mutations have been identified in X-linked Neuroligin (NLGN) 3 and 4X genes in patients wi

231 Rett syndrome (RTT) is an X-linked neurological disorder caused by mutations in th

232 tions in MECP2 cause Rett syndrome (RTT), an X-linked neurological disorder characterized by regressi

233 The X-linked neurological disorder Rett syndrome (RTT) prese

234 pinal and bulbar muscular atrophy (SBMA), an X-linked neuromuscular disease that is fully manifest on

235 (WAS), X-linked thrombocytopenia (XLT), and X-linked neutropenia, which are caused by WAS mutations

236 We also monitored the behaviors of X-linked non-coding transcripts before and after XCI.

237 Developmental eye defects in X-linked ocular albinism type 1 are caused by G-protein

238 reviously identified as an interactor of the X-linked Opitz G/BBB syndrome gene product Mid1.

239 The mutation segregates in an X-linked pattern, as all the affected family members are

240 n autosomal dominant, autosomal recessive or X-linked patterns.

241 tion of Multiplexed, Isobaric-labeled cross (X)-linked peptides) by integrating MS-cleavable cross-li

242 odigital, and Melnick-Needles syndrome, with X-linked periventricular nodular heterotopia and FG synd

243 cts approximately 1:10.000 live births, is a X-linked pervasive neuro-developmental disorder which is

244 We found that MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe bu

245 Duchenne muscular dystrophy (DMD) is an X-linked progressive degenerative disease resulting from

246 sive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses p

247 Novel therapies for choroideremia, an X-linked recessive chorioretinal degeneration, demand a

248 Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations in the ge

249 severe, progressive, and rare neuromuscular, X-linked recessive disease.

250 CblX (MIM309541) is an X-linked recessive disorder characterized by defects in

251 ing gene underlying Lesch-Nyhan syndrome, an X-linked recessive disorder.

252 We identified an X-linked recessive form of OI caused by defects in MBTPS

253 issense mutations in DDX3X, suggestive of an X-linked recessive inheritance pattern.

254 a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly i

255 pe ATPase in which diverse mutations lead to X-linked recessive Menkes disease or occipital horn synd

256 Diversity is very low for all genes in the X-linked region in the wild dioecious population, with n

257 treme low nucleotide diversity in the papaya X-linked region is much greater than observed in humans,

258 The extremely low diversity in the papaya X-linked region was probably caused by a recent, strong

259 de diversity and population structure in the X-linked region.

260 The X-linked reproductive homeobox (RHOX) gene cluster encod

261 Here we investigated the etiology of X-linked reticulate pigmentary disorder (XLPDR), a prima

262 se regulator (RPGR) gene account for >70% of X-linked retinitis pigmentosa (XLRP) and 15-20% of all i

263 Mutations in the human RP2 gene cause X-linked retinitis pigmentosa (XLRP) and cone-rod dystro

264 X-linked retinitis pigmentosa (XLRP) is one of the most

265 plicated in the pathogenesis associated with X-linked retinitis pigmentosa (XLRP) resulting from muta

266 ly repair an RPGR point mutation that causes X-linked retinitis pigmentosa (XLRP).

267 n RP2 and RPGR genes are responsible for the X-linked retinitis pigmentosa (XLRP).

268 of XLRP cases are caused by mutations in the X-linked retinitis pigmentosa 2 (RP2) and RPGR.

269 Mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) ge

270 exon of the RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in se

271 ons in the RP2 gene lead to a severe form of X-linked retinitis pigmentosa.

272 s of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutat

273 X-linked Retinoschisis (XLRS) is one of the most common

274 retinal architecture with mutations causing X-linked retinoschisis (XLRS), a monogenic form of macul

275 ntal gene therapy will benefit patients with X-linked retinoschisis in a forthcoming clinical trial.

276 between rings feature residues implicated in X-linked retinoschisis, indicating the importance of cor

277 rly vision impairment in young males, called X-linked retinoschisis.

278 functional analysis, we demonstrate how the X-linked RHOX gene cluster may function in normal human

279 tis Pigmentosa GTPase Regulator (RPGR) cause X-linked RP (XLRP), an untreatable, inherited retinal dy

280 Pase regulator) are the most common cause of X-linked RP, a severe blindness disorder.

281 A (siRNA) pathway and siRNA from a family of X-linked satellite repeats (1.688(X) repeats) promote X

282 Analysis of the X-linked sequences shows an undivided population, sugges

283 cell transplantation (HSCT) for infants with X-linked severe combined immune deficiency (SCID-X1) lac

284 X-linked Severe Combined Immunodeficiency (SCID-X1) is a

285 X-linked severe combined immunodeficiency (X-SCID) is an

286 including gene replacement for Hemophilia B, X-linked Severe Combined Immunodeficiency, Leber's Conge

287 e synthase 2 (ALAS2) have been identified in X-linked sideroblastic anemia (XLSA) pedigrees, strongly

288 , by taking advantage of naturally occurring X-linked somatic PIGA mutations in hematopoietic stem an

289 Because Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) patients have microthrom

290 Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia (XLT), and X-linked neutropeni

291 t anti-inflammatory lineage specified by the X-linked transcription factor Foxp3.

292 egans genome, we show that expression of all X-linked transgenes is balanced between XX hermaphrodite

293 mes: expression of compensated hermaphrodite X-linked transgenes is half that of autosomal transgenes

294 e (rex site) is neither necessary to repress X-linked transgenes nor sufficient to repress transgenes

295 Cells from patients with X-linked trichothiodystrophy, which harbour a mutation i

296 shedding light on the molecular mechanism of X-linked trichothiodystrophy.

297 SPRY3 maps adjacent to X-linked Trimethyllysine hydroxylase epsilon (TMLHE), re

298 s and supports the analysis of autosomal and X-linked variants for both unrelated and related individ

299 associated mRNA transcript, Eif2s3y, and the X-linked, X-inactivation transcript Xist.

300 The X-linked Xist long non-coding RNA functions as an X inac