ライフサイエンスコーパス: X-linked

1 gle SNPs and haplotypes, either autosomal or X-linked.

2 7, 78%), spanning 16 genes, none of which is X-linked.

3 Of these, only FANCB is X-linked.

4 ophy (ALD) is caused by mutations within the X-linked ABCD1 gene, resulting in the inability to trans

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

6 X-linked adrenoleukodystrophy (ALD) may switch phenotype

7 Cerebral X-linked adrenoleukodystrophy is a devastating neurodege

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

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

10 d the prototypic genetic antibody deficiency X-linked agammaglobulinaemia (XLA).

11 ficient mice or monocytes from patients with X-linked agammaglobulinemia (XLA) exhibited increased NL

12 X-linked agammaglobulinemia (XLA) is the prototype of pr

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

14 detect 18 unique variants (8 de novo and 10 x-linked, all validated), including 12 newly discovered

15 the case of a 24-year-old male patient with X-linked Alport syndrome diagnosis due to a COL4A5 patho

16 4a5(+/-) females that exhibit a mild form of X-linked Alport syndrome due to mosaic deposition of col

17 y comparing the overall expression levels of X-linked and autosomal genes across the four populations

18 The X-linked and autosomal genes independently influence mit

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

20 ntify alpha-thalassemia retardation syndrome X-linked (ATRX) as a novel physical and functional inter

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

22 IPEX is a fatal X-linked autoimmune disorder that results from mutations

23 his disorder the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.

24 It initially cataloged the known X-linked, autosomal recessive and autosomal dominant inh

25 rder caused by heterozygous mutations in the X-linked BCL-6 corepressor (BCOR) gene.

26 Brain Expressed X-linked (BEX) protein family consists of five members i

27 cription Factor 2 (E2f2) and Brain Expressed X-Linked (Bex)/Transcription elongation factor A-like (T

28 Hemophilia A, an X-linked bleeding disorder caused by deficiency of facto

29 contrast to other diverse therapies for the X-linked bleeding disorder hemophilia that are currently

30 Deletion in mice of X-linked, Brugada syndrome- and atrial fibrillation-asso

31 Many mutations on X-linked cell adhesion molecule NLGN4X result in ASD or

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

33 he initial results of nine severely affected X-linked CGD (X-CGD) patients who received ex vivo autol

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

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

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

37 X-linked Charcot-Marie-Tooth disease (CMT1X), one of the

38 lpha thalassemia/mental retardation syndrome X-linked chromatin remodeler (ATRX), a DAXX (death domai

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

40 ncephaly associated with variants in the two X-linked cohesin complex genes, STAG2 and SMC1A, with lo

41 opmental disorder caused by mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene.

42 The X-linked Danon disease manifests by severe cardiomyopath

43 sociation and inhibited DEAD-box helicase 3 (X-linked) (DDX3) ATPase activity.

44 DEAD-Box Helicase 3 X-Linked (DDX3X) is frequently mutated in the Wingless (

45 e human adenosinetriphosphatase/RNA helicase X-linked DEAD-box polypeptide 3 (DDX3X) emerged as a nov

46 sociated with DFNX2, the most common form of X-linked deafness and typically include developmental ma

47 Lowe syndrome (LS) is an X-linked developmental disease characterized by cognitiv

48 cause Christianson syndrome, a debilitating X-linked developmental disorder associated with a range

49 ne muscular dystrophy (DMD) is a devastating X-linked disease affecting ~1 in 5000 males.

50 Wiskott-Aldrich syndrome (WAS) is an X-linked disease caused by mutations in the WAS gene, le

51 chenne muscular dystrophy (DMD) is a lethal, X-linked disease characterized by progressive muscle deg

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

53 ically validated doublecortin (DCX), also an X-linked disease protein, and doublecortin-like kinase 1

54 This X-linked disease results from mutations of the DMD allel

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

56 ts exclusively cause recessive, dominant, or X-linked disease, respectively.

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

58 Duchenne muscular dystrophy (DMD) is a fatal X-linked disorder caused by nonsense or frameshift mutat

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

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

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

62 ation has potential for those suffering from X-linked disorders.

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

64 patient or a family member with appropriate X-linked dominant inheritance, and receipt of convention

65 Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder due to pat

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

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

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

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

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

71 e disease, characterized by mutations in the X-linked dystrophin, that has several therapeutic option

72 RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regula

73 mutations in TBC1D8B in two families with an X-linked early-onset SRNS with FSGS.

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

75 pt melanogaster technical knockout (tko), an X-linked essential gene.

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

77 oblast growth factor (FGF)13, a nonsecreted, X-linked, FGF homologous factor, is differentially expre

78 Knockout of the X-linked Fgf13 in the hypothalamic paraventricular nucle

79 The X-linked FHF2 gene (also known as FGF13) has alternative

80 Heterozygous mutations in the X-linked FLNA gene are associated with a large spectrum

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

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

83 echanism by which XX and XY mammals equalize X-linked gene dosages.

84 KCNE5 is an X-linked gene encoding KCNE5, an ancillary subunit to vo

85 The X-linked gene encoding MECP2 is involved in two severe a

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

87 rimordial germ cells (hPGCs) display reduced X-linked gene expression before entering meiosis.

88 e significant changes in Xist, H3K27me3, and X-linked gene expression occur, suggesting the potential

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

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

91 athies, caused by inherited mutations of the X-linked gene G6PD.

92 O-GlcNAc transferase (OGT) is an X-linked gene product that is essential for normal devel

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

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

95 report that B cell-specific deletion of the X-linked gene, Cosmc, and the consequent decrease of pro

96 CXCR3, an X-linked gene, is subject to X chromosome inactivation (

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

98 Second, numerous X-linked genes are associated with p53, including vital

99 enetics (Ellis et al, 2005 [3]) showing that X-linked genes are upregulated in the various deleted ge

100 Our study demonstrates how newly acquired X-linked genes can rapidly evolve new and essential func

101 d no XIST RNAs and a global up-regulation of X-linked genes confirmed that the deletion of XIST react

102 A significant number of X-linked genes escape from X chromosome inactivation and

103 X-linked genes exhibiting AE in SLE had an extensive ove

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

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

106 ganization of chromosome X and corresponding X-linked genes in a variety of healthy human and disease

107 s to modify underlying chromatin and silence X-linked genes in cis Recent years have seen significant

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

109 hromosomes [6]; e.g., Drosophila overexpress X-linked genes in males [7], while mammals shut down one

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

111 ggest that XCD evolved in humans to regulate X-linked genes in pre-implantation embryos and PGCs.

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

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

114 rrelated with AE profiles more positively at X-linked genes than the genome-wide background.

115 d an inability to shield against deregulated X-linked genes that engage in p53 networks.

116 own and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated

117 , H4K16 was necessary for expression of male X-linked genes, male viability, and maintenance of ovari

118 non-expressed mutations among p53-associated X-linked genes.

119 ion of X-linked male-biased genes than other X-linked genes.

120 f DNA methylation levels at these AE-related X-linked genes.

121 Duchenne muscular dystrophy (DMD) is an X-linked genetic disease characterized by progressive mu

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

123 We find approximately twice as much X-linked genetic variation across the UK Biobank traits

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

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

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

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

128 highlight examples of biologically relevant X-linked heterogeneity between the sexes that bias DC es

129 ion that shifts the functional dosage of all X-linked heterozygous loci in a tissue-restricted manner

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

131 iation factor 1A Y-linked, together with its X-linked homolog EIF1AX Evolutionary loss of a Y-linked

132 As in mice, an X-linked homolog of a bull Y-amplified gene has become t

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

134 micity: indeed, it is a unique example of an X-linked human polymorphism balanced through protection

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

136 X-linked hypophosphataemia (XLH) is the most common caus

137 16 clinical sites, we enrolled children with X-linked hypophosphataemia aged 1-12 years.

138 Children with X-linked hypophosphataemia have high concentrations of c

139 X-linked hypophosphataemia in children is characterised

140 s in the USA, children (aged 1-4 years) with X-linked hypophosphataemia received burosumab (0.8 mg/kg

141 owth, and biochemistries among children with X-linked hypophosphataemia treated with burosumab compar

142 y alter the treatment of young children with X-linked hypophosphataemia.

143 and rickets in children aged 5-12 years with X-linked hypophosphataemia.

144 ficacy of burosumab in younger children with X-linked hypophosphataemia.

145 clonal antibody against FGF23, in paediatric X-linked hypophosphataemia.

146 June 10, 2016, we enrolled 13 children with X-linked hypophosphataemia.

147 atient or direct relative also affected with X-linked hypophosphataemia.

148 es in growth in children aged 1-4 years with X-linked hypophosphataemia.

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

150 X-linked hypophosphatemia (XLH) leads to growth retardat

151 Mutations in PHEX cause X-linked hypophosphatemia (XLH), a form of hypophosphate

152 lfatase) gene at Xp22.31 are associated with X-linked ichthyosis, corneal opacities, testicular malde

153 RLIM have recently been identified to cause X-linked ID in males, with heterozygous females typicall

154 ed with this particular nonsyndromic form of X-linked ID.

155 S2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome.

156 XMEN (X-linked immunodeficiency with magnesium defect, EBV inf

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

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

159 egulator of median forebrain development and X-linked inheritance patterns in holoprosencephaly.

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

161 The E3 ubiquitin ligase X-linked inhibitor of apoptosis (XIAP) acts as a molecul

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

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

164 had reduced levels of phosphorylated AKT and X-linked inhibitor of apoptosis (XIAP); incubation of th

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

166 lent agents targeting the BIR3 domain of the X-linked inhibitor of apoptosis protein (XIAP) using a b

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

168 pplied to redesigning the BIR3 domain of the X-linked inhibitor of apoptosis protein (XIAP), whose pr

169 hin the binding pocket of the BIR3 domain of X-linked inhibitor of apoptosis protein (XIAP).

170 erexpression of the pro-apoptotic gene XAF1 (X-linked inhibitor of apoptosis-associated factor 1).

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

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

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

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

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

176 A total of 40 affected males have X-linked intellectual disability (XLID) and variable beh

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

178 ase activating protein whose mutations cause X-linked intellectual disability (XLID) in humans.

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

180 GABAergic circuitry in Ophn1 mouse model of X-linked intellectual disability (XLID).

181 iation factor eIF2, cause MEHMO syndrome, an X-linked intellectual disability disorder.

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

183 h congenital lethal motor neuron disease and X-linked intellectual disability disorders, yet its role

184 s distal to the OGT catalytic domain lead to X-linked intellectual disability in boys, but it is not

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

186 Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome caused by a lo

187 analyses of patients with MEHMO syndrome, an X-linked intellectual disability syndrome, have identifi

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

189 alytic deficiency of OGT could contribute to X-linked intellectual disability.

190 were recently described as a cause of severe X-linked intellectual disability.

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

192 regulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a devastating autoimmune dis

193 regulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a lethal disease caused by m

194 ein (RBP)/helicase DDX3 (DEAD-box helicase 3 X-linked) is a key component of stress granules (SG) and

195 X-linked juvenile retinoschisis (XLRS) is an early-onset

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

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

198 Duchenne muscular dystrophy (DMD) is an X-linked, lethal muscle degenerative disease caused by l

199 Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolip

200 Pelizaeus-Merzbacher disease is a fatal X-linked leukodystrophy caused by mutations in the PLP1

201 regulation, polyendocrinopathy, enteropathy, X-linked-like syndrome.

202 malformative spectrum of tubulinopathies and X-linked lissencephaly with abnormal genitalia, but neur

203 lectively, these findings suggest that these X-linked loci are involved in autosomal gene regulation

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

205 abnormality genes (RAB27A, LYST, and AP3B1), X-linked lymphoproliferative disease genes (SH2D1A and X

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

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

208 Fabry disease is an X-linked lysosomal storage disease caused by alpha-galac

209 Fabry disease is an X-linked lysosomal storage disease caused by deficiency

210 Fabry disease is an X-linked lysosomal storage disease caused by loss of alp

211 Fabry disease (FD) is an X-linked lysosomal storage disease resulting in tissue a

212 small GTPase gene RAB39b are associated with X-linked macrocephaly, autism spectrum disorder (ASD), a

213 f-function mutations in the MAGT1 gene cause X-linked magnesium deficiency with Epstein-Barr virus (E

214 likely to drive the expression evolution of X-linked male-biased genes than other X-linked genes.

215 We show that X-linked male-biased genes, and to a lesser extent femal

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

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

218 We investigate this using SR, an X-linked meiotic drive system in the stalk-eyed fly, Tel

219 Mutations in X-linked methyl-CpG-binding protein 2 (MECP2) cause Rett

220 The muscular dystrophy X-linked mouse (mdx) is the most commonly used preclinic

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

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

223 We demonstrate that this X-linked mutation produces dominant-negative phenotypes,

224 (phosphate-regulating endopeptidase homolog, X-linked) mutation or variant of unknown significance in

225 bly integral membrane protein (VMA21), whose X-linked mutations lead to autophagic myopathy.

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

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

228 C, ARX, ZNF711 and PHF8) are associated with X-linked NDDs comprising intellectual disability as a co

229 High expression of X-linked negative regulators of p53 in wild-type TP53 ca

230 treating forms of diabetes insipidus (e.g., X-linked nephrogenic diabetes insipidus) in which the ki

231 The X-linked neurodevelopmental diseases CDKL5 deficiency di

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

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

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

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

236 uchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder that affects males.

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

238 hat D. melanogaster genome contains multiple X-linked non-coding genomic repeats that have sequence s

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

240 One participant had GPR143-associated X-linked ocular albinism and another proband had biallel

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

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

243 this reason, their entire genomes display an X-linked pattern, as every chromosome is found twice as

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

245 featuring 53 genes known to have deleterious X-linked phenotypes in humans.

246 ogenic variations in TBC1D8B are involved in X-linked podocytopathy and points to alterations in recy

247 difference is the likely outcome of a single X-linked polymorphic gene that functions in a CM-nonauto

248 saliva (n = 20) using methylation status of X-linked polymorphic repeats.

249 Wiskott-Aldrich syndrome (WAS) is an X-linked primary immune deficiency disorder resulting fr

250 ldrich syndrome is a rare, life-threatening, X-linked primary immunodeficiency characterised by micro

251 evelop in Wiskott-Aldrich syndrome (WAS), an X-linked primary immunodeficiency disorder (PID) resulti

252 Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency with severe platelet a

253 CD40 ligand (CD40L) deficiency, an X-linked primary immunodeficiency, causes recurrent sino

254 m whole exome sequence we identified two new X-linked protein coding variants that arose de novo in B

255 No BALB/cJ-specific X-linked protein coding variants were found, implicating

256 higher eukaryotes, lead to gain-of-function X-linked protoporphyria (XLP).

257 utanea tarda, erythropoietic protoporphyria, X-linked protoporphyria, and the rare congenital erythro

258 tients with erythropoietic protoporphyria or X-linked protoporphyria.

259 riptional regulator transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1) in GC cells, including ste

260 ASD etiology such as transducin beta-like 1 X-linked receptor 1 and methyl-CpG binding protein 2.

261 Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% cau

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

263 Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL,

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

265 erited and 5% were de novo), 1 was inherited X-linked recessive, and 1 was of uncertain inheritance.

266 f ATRX (alpha-thalassemia mental retardation X-linked) represents a defining molecular alteration in

267 ense variation (M58K) found in a family with X-linked retinitis pigmentosa (XLRP) and show that this

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

269 X-linked retinitis pigmentosa can manifest in female car

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

271 males, a form of macular degeneration called X-linked retinoschisis (XLRS).

272 entral macula, are not well characterized in X-linked retinoschisis (XLRS).

273 Congenital X-linked retinoschisis displayed long-term stability in

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

275 e, with RPGR mutations accounting for 70% of X-linked RP cases.

276 st for autosomal dominant RP and fastest for X-linked RP, with autosomal recessive RP progression rat

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

278 hematopoietic stem-cell transplantation for X-linked severe combined immunodeficiency (SCID-X1) ofte

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

280 ion of the gene encoding gamma(c) results in X-linked severe combined immunodeficiency in humans, and

281 who had undergone bone marrow transplant for X-linked severe combined immunodeficiency, with no recov

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

283 Here, we demonstrate that the X-linked Slx and Slxl1 ampliconic gene families represen

284 ts in the cohesin complex genes that are not X-linked, SMC3 and RAD21.

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

286 at the NMJ in spinal muscular atrophy (SMA), X-linked spinal and bulbar muscular atrophy (SBMA), and

287 Here we describe an approach for X-linked sSevere cCombined iImmunodeficiency (SCID-X1) u

288 n five unrelated families presenting with an X-linked syndrome involving intellectual disability, pro

289 dysregulation polyendocrinopathy enteropathy X-linked) syndrome patient with a FOXP3 mutation in the

290 ATRX (Alpha Thalassemia/Mental Retardation, X-linked) that generate in-frame fusion (IFF) proteins d

291 Because TLR8 is X-linked, the increases were generally reduced in hetero

292 classical Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) because it causes severe

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

294 bed GSDs segregate as autosomal recessive or X-linked traits.

295 To examine the role of X-linked transcription in SLE adaptive immune cells, we

296 X-chromosome inactivation (XCI) balances the X-linked transcriptional dosages between the sexes.

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

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

299 Interestingly, a notable number of X-linked variants were detected (56%), and all of them w

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