ライフサイエンスコーパス: FHL

1 FHL 124 cell FPR1 was atypical in that it resisted agoni

2 FHL Ia and group II afferents generally had increased di

3 FHL possesses functional nuclear localization and nuclea

4 FHL, which has the alpha drive of a classic extensor, re

5 FHL-1 is largely bound to Bruch's membrane through inter

6 FHL-1 promoted entry of Fba(+) group A streptococci into

7 or H (FH), a splice variant factor-H-like 1 (FHL-1), and five factor-H-related proteins (FHR-1 to FHR

8 Mutant recombinant factor H like-1 (FHL-1) proteins were expressed in HEK293 cells to assess

9 roteins to factor H/factor H-like protein 1 (FHL-1) and other serum proteins from different animals w

10 Factor H and factor H like-protein 1 (FHL-1) are complement regulatory proteins that serve as

11 alternate splice variant FH-like protein 1 (FHL-1) are the major regulators of the complement altern

12 Treponema denticola factor H-like protein 1 (FHL-1) binding protein, FhbB, was recovered and characte

13 duces a factor H (FH) and FH-like protein 1 (FHL-1) binding protein.

14 uch as factor H and factor H-like protein 1 (FHL-1) for immune evasion.

15 s factor H (FH) and factor H-like protein 1 (FHL-1) for immune evasion.

16 s factor H (FH) and factor H-like protein 1 (FHL-1) for immune evasion.

17 protein A (FhbA) to bind FH-like protein 1 (FHL-1) has not been assessed previously.

18 its splice variant factor H-like protein 1 (FHL-1) to self-ligands or altered self-ligands (e.g., ma

19 CR7 of both CFH and factor H-like protein 1 (FHL-1), a splice variant of CFH (containing SCR1-7) with

20 ncated form of FH, called FH-like protein 1 (FHL-1), is the main regulatory protein in the layer of E

21 Here we report that factor H-like protein 1 (FHL-1), which contains FH domains 1 through 7 and posses

22 As expected, fH-like protein 1 (FHL-1), which contains fH SCR 6, also bound to fHbp-expr

23 ibitors factor H (FH) and FH-like protein 1 (FHL-1).

24 cally bound to factor H (FH)-like protein 1 (FHL-1).

25 s human factor H (FH) and FH-like protein 1 (FHL-1).

26 oteins factor H and factor H-like protein 1 (FHL-1).

27 ement, factor H and factor H-like protein 1 (FHL-1).

28 such as factor H (FH) and FH-like protein 1 (FHL-1).

29 f Bruch's membrane, Factor H-like protein 1 (FHL-1).

30 ), and its splice product FH-like protein 1 (FHL-1; consisting of CCPs 1-7) are major regulators of t

31 proteins, Factor H, Factor H-like protein-1 (FHL-1), complement Factor H-related protein 1 (CFHR1), a

32 Retrospective review of 192 FHL tenograms and associated surgical records identified

33 ents with single heterozygous mutations in 2 FHL-associated genes.

34 l hemophagocytic lymphohistiocytosis (type 2 FHL, FHL2).

35 bound enzyme termed formate hydrogenlyase-2 (FHL-2), which has fascinating evolutionary links to the

36 s between nesprin-2/telethonin and nesprin-2/FHL-2, and showed that nesprin-2 and telethonin binding

37 l hemophagocytic lymphohistiocytosis type 4 (FHL-4).

38 d as the disease-causing gene in FHL type 5 (FHL-5).

39 we report that SCPL-1 interacts with LIM-9 (FHL), a protein that we first discovered as an interacto

40 he M-line proteins UNC-89 (obscurin), LIM-9 (FHL), SCPL-1 (SCP), and UNC-96.

41 structure in complex with DNA containing an FHL motif at 1.6 angstrom resolution, in which the DNA s

42 ge of C3b revealed that C3b is cleaved in an FHL-1/factor I-independent manner, perhaps by an unident

43 Fba is an FHL-1 and FH binding protein expressed on the surface of

44 Matrix contraction was determined using an FHL-124 patch contraction assay; at end-point, cells wer

45 the context of full-length CFH (SCR1-20) and FHL-1.

46 = 1.3 x 10(-3); FHR-5, p = 1.9 x 10(-4)) and FHL-1 (p = 4.9 x 10(-4)) when these individuals were com

47 ons of the Y402 and H402 variants of CFH and FHL-1 with heparin, CRP, and several bacterial ligands:

48 In comparing the Y and H variants of CFH and FHL-1, we found no significant difference in their prote

49 e present study, we demonstrate that Fba and FHL-1 work in concert to promote invasion of epithelial

50 lates, indicating that Fba is a major FH and FHL-1 binding factor of serotype M1 streptococci.

51 Fba is an FH and FHL-1 binding protein expressed on the surface of the hu

52 f fba DNA sequences revealed that the FH and FHL-1 binding site in Fba is conserved among the M1 isol

53 n of fba greatly inhibited binding of FH and FHL-1 by all isolates, indicating that Fba is a major FH

54 at the role of Fba in recruitment of FH and FHL-1 by five serotype M1 isolates of streptococci.

55 By analyzing human FH and FHL-1 for protection of different host and foreign cells

56 purified FH as well as for binding of FH and FHL-1 from human plasma.

57 nstrated that B. hermsii absorbs both FH and FHL-1 from human serum.

58 , these data indicate that binding of FH and FHL-1 is a conserved function of Fba while modulation of

59 esting that the protease may modulate FH and FHL-1 recruitment during infection.

60 to N. gonorrhoeae The ligand for both FH and FHL-1 was identified as neisserial surface protein A (Ns

61 49 Fba protein was found to bind both FH and FHL-1.

62 eptococci have similar affinities for FH and FHL-1.

63 ce protein Fba can mediate binding of FH and FHL-1.

64 f FHDelta10-15 and midiFH to miniFH, FH, and FHL-1.

65 al for activating the expression of FHY1 and FHL (for FHY1-like), whose products are required for lig

66 at phyA may differentially regulate FHY1 and FHL activity through direct physical interaction and red

67 Although both FHY1 and FHL are capable of homo- and hetero-interaction via thei

68 ssisting phyA nuclear accumulation, FHY1 and FHL are required to assemble photoreceptor/transcription

69 Furthermore, we demonstrate that FHY1 and FHL directly interact with phyA by bimolecular fluoresce

70 est that the relative abundances of FHY1 and FHL in WT plants account for the differences in the seve

71 cence complementation and that both FHY1 and FHL interact more stably with the Pr form of phyA in Ara

72 tly activating the transcription of FHY1 and FHL, whose products are essential for light-induced phyA

73 transmit phyA signals downstream of FHY1 and FHL.

74 FOX family members revealed that the FKH and FHL DNA sequences are bound in two distinct modes, with

75 oxN3 DNA binding domain bound to the FKH and FHL sites, respectively.

76 mate and hydrogen metabolism in general, and FHL-2 function and structure in particular.

77 Factor H and FHL-1 displayed complement-regulatory activity, and boun

78 sed lipoprotein that binds both factor H and FHL-1.

79 lass II FHBPs (BBA68) bind both factor H and FHL-1.

80 Recombinant Gpd2 binds factor Hand and FHL-1, mainly via short consensus repeat 7; and binds pl

81 FHY1 (for FAR-RED ELONGATED HYPOCOTYL1) and FHL (for FHY1-LIKE).

82 e LIM protein families (zyxin, paxillin, and FHL) whose members preferentially localize to the actin

83 t proteins FHL-1(R127H), FHL-1(A415f/s), and FHL-1(C431S) demonstrated that they are not secreted, an

84 d by mutations in nesprin-2, telethonin, and FHL-2 identified in EDMD with DCM and hypertrophic cardi

85 1(+) Fba(+) streptococci preferentially bind FHL-1, whereas M1(-) Fba(+) streptococci have similar af

86 nstrate that T. denticola specifically binds FHL-1 via a 14-kDa, surface-exposed protein that we desi

87 rlaps the coiled-coil domain that binds both FHL-1 and FH.

88 ugh 7, and thus are predicted to impact both FHL-1, the predominant isoform in Bruch's membrane (BrM)

89 sly reported mutations are unlikely to cause FHL.

90 as dominant genetic variants that modify CFH/FHL-1 binding to MDA.

91 s separated patients with perforin-deficient FHL from those with unidentified genetic cause(s) of the

92 Biallelic pathogenic mutations defining FHL were found in 171 (34%) patients; the proportion of

93 ulation have been more useful for diagnosing FHL than hemophagocytosis and the cytotoxicity assay.

94 forkheads recognize a completely different (FHL) motif, GACGC.

95 Contrary to dogma, FHL-1 and FH exhibited equal regulatory activity, sugges

96 The four-and-a-half LIM domain (FHL) proteins are a family of LIM domain-only proteins i

97 ied telethonin and four-and-half LIM domain (FHL)-2 as potential nesprin-2 binding partners.

98 Given this gene dosage effect, FHL is not strictly recessive.

99 common cause of FHL, we used an experimental FHL mouse model in which disease in perforin-deficient m

100 cells in the pathophysiology of experimental FHL.

101 But unlike FH, FHL-1 exhibits a fast plasma clearance in mice, occurs s

102 FH/FHL-1 bound Nm-NspA better than Ng-NspA; introducing Q a

103 Factor H and factor H-like protein 1 (FH/FHL-1) are soluble serum proteins that negatively regula

104 ors factor H and factor H-like protein 1 (FH/FHL-1).

105 lear how the interaction between CspA and FH/FHL-1 specifically enhances serum resistance.

106 lecular nature of the interaction between FH/FHL-1 and FhbA.

107 ria, including Borrelia burgdorferi, bind FH/FHL-1 on their cell surface to evade complement-mediated

108 face of B. burgdorferi that also can bind FH/FHL-1, it is presently unclear what role CRASP-1 plays i

109 While it is known that CspA binds FH/FHL-1, it is unclear how the interaction between CspA an

110 spA), N. gonorrhoeae NspA (Ng-NspA) bound FH/FHL-1 through FH domains 6 and 7.

111 isolates (23/24) produced FhbA and bound FH/FHL-1.

112 One of the key B. burgdorferi FH/FHL-1 binding proteins identified thus far was designate

113 ed proteins were generated and tested for FH/FHL-1 binding.

114 hbA that may serve as a contact point for FH/FHL-1.

115 To determine if FH/FHL-1 binding is widespread among B. hermsii isolates, a

116 se Ng-NspA to Nm-NspA mutations increased FH/FHL-1 binding.

117 ce protein 1 (CRASP-1), encodes the major FH/FHL-1-binding protein of B. burgdorferi.

118 Binding of FH/FHL-1 by the B. burgdorferi proteins CspA and the OspE-r

119 The binding of FH/FHL-1 on the surface of B. burgdorferi is thought to enh

120 Binding of FH/FHL-1 through domains 6 and 7 to N. gonorrhoeae increase

121 Binding of FH/FHL-1 to NspA was human specific; the histidine (H) at p

122 A and H (Ng-NspA), respectively, reduced FH/FHL-1 binding.

123 ollectively, these analyses indicate that FH/FHL-1 binding is a widespread virulence mechanism for B.

124 verse panel of strains was tested for the FH/FHL-1 binding phenotype and FhbA production.

125 in the formation and presentation of the FH/FHL-1-binding pocket.

126 membrane and drusen, and can compete with FH/FHL-1 for C3b binding, preventing FI-mediated C3b cleava

127 lar basis of the interaction of FhbA with FH/FHL-1, recombinant FhbA truncated proteins were generate

128 As for FHY1, FHL transcript accumulation is dependent on FHY3 and is

129 pitation experiments showed that phyA, FHY1, FHL, LAF1, and HFR1 are components of protein complexes

130 be accounted for by a critical role for FHY1-FHL heterodimers in phyA signal transmission.

131 on domain mediates the formation of the FHY1/FHL/PHYA far-red-absorbing form complex, whereby it play

132 and peptide W revealed the same profile for FHL 124 cells, neutrophils, and FPR1-transfected HEK 293

133 A binding site for FHL-1 and FH was localized to the N-terminal half of Fba

134 e of ST2 as a novel therapeutic strategy for FHL.

135 th open reading frame in sequenced cDNA from FHL 124 cells.

136 omplement active serum depleted of Factor H, FHL-1, and CFHR1, demonstrating a protective role of the

137 Factor H, FHL-1, and plasminogen when bound to Lpd were functional

138 factor of P. aeruginosa that binds Factor H, FHL-1, CFHR1, and plasminogen, and the Lpd-attached regu

139 The diagnosis of familial HLH (FHL) is traditionally based on finding biallelic mutatio

140 Familial forms of HLH (FHL), which are increasingly found also in adolescents a

141 The biological formate hydrogenlyase (FHL) complex links a formate dehydrogenase (FDH) to a hy

142 is the membrane-bound formate hydrogenlyase (FHL) complex, which links formate oxidation to proton re

143 The formate hydrogenlyase (FHL) enzyme from Escherichia coli normally oxidizes form

144 These results identify FHL proteins as negative regulators of HIF-1 activity, w

145 ng mutations found that 75.8% (22/29) impact FHL-1 and FH.

146 ed reactive proliferation of CD8+ T cells in FHL, resulting in atypical morphology and unusual immuno

147 ntegrin (fibronectin receptor components) in FHL 124 cells and human lens epithelia.

148 nd MT1-MMP and induced matrix contraction in FHL-124 cells.

149 e mechanisms of hemopoietic dysregulation in FHL.

150 rucial amplifiers of immune dysregulation in FHL.

151 ced pertussis toxin-sensitive Ca(2+) flux in FHL 124 cells, consistent with classic G(i)-mediated FPR

152 en identified as the disease-causing gene in FHL type 5 (FHL-5).

153 genesis of the integrin-binding RGD motif in FHL-1 or by using competing antibodies directed against

154 TXBP2 in neutrophils, and for neutrophils in FHL in general, has not been documented thus far.

155 To localize the Fba binding site in FHL-1 and FH, surface plasmon resonance was used to asse

156 ent interleukin-33 (IL-33) receptor, ST2, in FHL.

157 20% increase in heart weight/body weight in FHL null versus wild-type mice; P<0.01).

158 iated variants at this locus might influence FHL-1 and FHR protein concentrations.

159 nding site, and heparin was found to inhibit FHL-1 binding to Fba.

160 Consistent with its FHL-1 binding specificity, FhbB binds only to factor H r

161 dilution but no mutations in the other known FHL-related genes (PRF1, STXBP2, and UNC13D).

162 HYPOCOTYL1 (FHY1) and its homolog FHY1-LIKE (FHL) define two positive regulators in the phyA signalin

163 D ELONGATED HYPOCOTYL1 (FHY1) and FHY1-LIKE (FHL), and two transcription factors, LONG AFTER FAR-RED

164 hat recognizes an alternative forkhead-like (FHL) consensus sequence (GACGC) that is different from t

165 A member of the four-and-a-half-LIM (FHL) domain protein family, FHL1, is highly expressed in

166 ntiation markers in the human lens cell line FHL 124 and native lens epithelia.

167 s, the human fetal lens epithelial cell line FHL 124 expressed FPR1 mRNA and was strongly FPR1 protei

168 The human lens epithelial cell-line FHL-124 and human capsular bag models were employed.

169 orin gene of eight unrelated 10q21-22-linked FHL patients revealed homozygous nonsense mutations in f

170 perforin are responsible for 10q21-22-linked FHL.

171 simotor drive to the flexor hallucis longus (FHL) and flexor digitorum longus (FDL) muscles during lo

172 dies, harvesting the flexor hallucis longus (FHL) tendon may cause nerve injury.

173 gists in humans, the flexor hallucis longus (FHL, a toe flexor) and the anal sphincter, as a model th

174 he pathogen (through formate hydrogen lyase [FHL] and Hyc) is insignificant in terms of providing res

175 familial hemophagocytic lymphohistiocytosis (FHL) forms.

176 Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically determined hyperinflammatory syndr

177 Familial hemophagocytic lymphohistiocytosis (FHL) is a life-threatening disorder of immune regulation

178 Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by

179 Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, genetically heterogeneous autosomal rece

180 Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, rapidly fatal, autosomal recessive immun

181 Familial hemophagocytic lymphohistiocytosis (FHL) is an inherited, fatal disorder of infancy.

182 Familial hemophagocytic lymphohistiocytosis (FHL) is caused by genetic defects in cytotoxic granule c

183 familial hemophagocytic lymphohistiocytosis (FHL) to screen for biologic correlates with the genetic

184 familial hemophagocytic lymphohistiocytosis (FHL), are lethal disorders caused by uncontrolled, syste

185 familial hemophagocytic lymphohistiocytosis (FHL), have various underlying genetic abnormalities, the

186 familial hemophagocytic lymphohistiocytosis (FHL).

187 familial hemophagocytic lymphohistiocytosis (FHL).

188 Here we identify a homolog of FHY1 named FHL (FHY1-like) as a novel signaling factor essential fo

189 T. denticola preferentially binds FH and not FHL-1, and that FH is then cleaved by dentilisin to yiel

190 eraction via their C-termini, the ability of FHL overexpression to restore wild-type (WT) morphologic

191 Analyses of the ability of FHL-1 bound to the surface of T. denticola to serve as a

192 reason for this unexpected high activity of FHL-1 is the observation that the complement regulatory

193 genes encoding the predicted membrane arm of FHL-2 established surprisingly that the majority of gene

194 nt to explain several fundamental aspects of FHL, namely, the inability of many pathogenic antigens t

195 ombinant proteins and assayed for binding of FHL-1 and FH by Western blotting, enzyme-linked immunoso

196 y, as evidenced by a low level of binding of FHL-1 relative to that of fH.

197 ncreased risk of AMD, reduces the binding of FHL-1 to this heparan sulfate.

198 netics, maturation, and some biochemistry of FHL are understood, the protein complex has never been i

199 nd the basis of, otherwise cryptic, cases of FHL or HLH and, in some instances, to demonstrate that p

200 UNC13D (FHL3) accounted for 70% of cases of FHL.

201 se mutation in perforin is a common cause of FHL, we used an experimental FHL mouse model in which di

202 nt step in understanding the contribution of FHL-1 binding in T. denticola pathogenesis and in develo

203 of the N2B spring element and expression of FHL proteins trigger cardiac hypertrophy.

204 ents with "late onset and relapsing" form of FHL related to B- and T-cell differentiation/survival, T

205 s with "late-onset" and "relapsing" forms of FHL from patients with an "early onset and rapidly evolv

206 13-4) underlie the other identified forms of FHL, we assessed whether syntaxin 11 might also serve a

207 we hypothesize that the primary function of FHL-1 binding by T. denticola might be to facilitate adh

208 We propose that haploinsufficiency of FHL-1, the main regulator of the complement pathway in B

209 atterns, which underlie the immunobiology of FHL.

210 s a potential digenic mode of inheritance of FHL as a result of a synergistic function effect within

211 reported that allow the facile isolation of FHL in a single chromatographic step.

212 tion of ST2 signaling in the murine model of FHL reduces T cell-mediated production of IFNgamma and s

213 In the murine model of FHL, in which perforin-deficient (Prf1(-/-)) mice are in

214 und in 171 (34%) patients; the proportion of FHL was much higher (64%) in patients given a diagnosis

215 In this work, the reverse reaction of FHL is unlocked.

216 latory activity, suggesting that the role of FHL-1 in AP regulation has been underestimated.

217 These data show a non-canonical role of FHL-1 in protecting RPE cells against oxidative stress a

218 ed patients with unknown genetic cause(s) of FHL into 2 well-distinguished subgroups.

219 ish between genetic and clinical subtypes of FHL.

220 itivity to FR associated with suppression of FHL expression in fhy1-3 cannot be accounted for by a cr

221 ngation assays indicated that suppression of FHL expression in fhy1-3 caused an insensitivity of hypo

222 -terminal region of FHY1, as well as that of FHL, interacting with the LAF1 N-terminal portion and th

223 To advance the understanding of FHL, we performed gene expression profiling of periphera

224 gene response that includes upregulation of FHL proteins.

225 ssed in HEK293 cells to assess the impact on FHL-1 expression and function.

226 Lys revealed ~2500 specific binding sites on FHL-124 cells (K(D) ~ 0.5 nm) versus ~40,000 sites on ne

227 d variants cause haploinsufficiency of FH or FHL-1.

228 gnosis and treatment of patients with HLH or FHL who inherit mutations of undetermined pathogenicity.

229 fection and binds factor H (fH) and possibly FHL-1/reconectin.

230 red with pH 7.5 and for FOXN1 to a preferred FHL motif at higher pHi in cells.

231 embers of the four and one-half LIM protein (FHL) family have been identified and cloned.

232 In vitro analysis of recombinant proteins FHL-1(R127H), FHL-1(A415f/s), and FHL-1(C431S) demonstra

233 alysis of recombinant proteins FHL-1(R127H), FHL-1(A415f/s), and FHL-1(C431S) demonstrated that they

234 n of this coiled-coil domain greatly reduced FHL-1 and FH binding.

235 In agreement with previous reports, FHL gave a single burst of EMG activity during the step

236 ectrochemical and a colloidal semiartificial FHL system that consists of an FDH and a H(2)ase immobil

237 In several FHL-4 patients, we also observed hypogammaglobulinemia,

238 yzed a cohort of 185 patients with suspected FHL for mutations in STXBP2.

239 are approximately 15-fold more abundant than FHL transcripts.

240 to generate anal sphincter contraction than FHL contraction.

241 its late phylogenetic occurrence argue that FHL-1 is crucial for local rather than systemic compartm

242 ical approaches were taken to establish that FHL-2 is fully functional in P. atrosepticum and is the

243 It is established that FHL can operate as a highly efficient hydrogen-dependent

244 Linkage analyses indicate that FHL is genetically heterogeneous and linked to 9q21.3-22

245 Here, we report that FHL-5 neutrophils have a profound defect in granule mobi

246 We show that FHL-1 can passively diffuse through Bruch's membrane, wh

247 ectivity for self over foreign and show that FHL-1 is more active than known but specialized for regu

248 We also show that FHL-1 is retained in drusen whereas FH coats the periphe

249 We further show that FHL-1 possesses higher regulatory activity than known bu

250 The FHL-2 complex was shown to comprise a rare example of an

251 describe functional interactions between the FHL proteins and HIF-1.

252 endon, due to the large distance between the FHL tendon and the medial and lateral plantar nerves.

253 with anesthetic injection helped confirm the FHL sheath as the pain generator.

254 e minimally invasive incision to harvest the FHL tendon, due to the large distance between the FHL te

255 A retraction was performed to harvest the FHL through the posteromedial hindfoot incision using a

256 As isolated, the FHL complex retains formate hydrogenlyase activity in vi

257 rstanding and harnessing the activity of the FHL complex is critical to advancing future biohydrogen

258 also demonstrated that other members of the FHL family can bind to CHIKV HVD and thus may be involve

259 Expression of the FHL proteins increased upon HIF-1alpha induction, sugges

260 Tenography of the FHL sheath produced diagnostic images in almost all pati

261 Communication of the FHL sheath with the ankle, flexor digitorum longus, or s

262 , 43 had monoallelic mutations in one of the FHL-defining genes.

263 esign of synthetic catalysts and surpass the FHL complex in vivo by storing and releasing H(2) on dem

264 Thus, FHL-124 cells express functional FPR1, which is consiste

265 Human primary RPE cells adhered to FHL-1 in a manner that was eliminated by either mutagene

266 enticola might be to facilitate adherence to FHL-1 present on anchorage-dependent cells and in the ex

267 gnificantly greater protection when bound to FHL-1 or LA compared to plastic or FN.

268 RNAseq analysis of hTERT-RPE1 cells bound to FHL-1, showed an increased expression of the heat-shock

269 nsensus repeat 7 (SCR 7), a domain common to FHL-1 and FH.

270 onsistent with phasic dynamic gamma drive to FHL spindles linked with alpha drive.

271 In conclusion, the gamma drives to FHL and FDL differed during locomotion.

272 es from HLH secondary to severe infection to FHL.

273 echanism of FH in favor of self: relative to FHL-1, FH exhibits a regulatory benefit on self but impo

274 ions in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patient

275 uclear cells from 11 children with untreated FHL.

276 ed H2 oxidation and formate production using FHL became an alternate route for electron disposal duri

277 eriorly that activates during both voluntary FHL contraction as well as voluntary anal sphincter cont

278 at preferentially activates during voluntary FHL contraction and one located more anteriorly that act

279 ic recordings, we demonstrate that voluntary FHL contraction is associated with synergistic anal sphi

280 Lines in which FHL function was abolished by insertional mutagenesis or

281 e-wide expression profiling in children with FHL demonstrates the complexity of gene expression patte

282 Comparisons between patients with FHL and normal pediatric controls (n = 30) identified 91

283 A number of patients with FHL and normal pigmentation remain without a genetic dia

284 h oculocutaneous albinism, and patients with FHL are usually only screened for mutations in these gen

285 We asked whether patients with FHL with immunodeficiency but with normal pigmentation m

286 need for RAB27A sequencing in patients with FHL with normal pigmentation and identify a critical bin

287 of RAB27A, LYST, and AP3B1 in patients with FHL with pigment dilution, as well as a cohort with no c

288 For patients with FHL, stem cell transplantation is indicated and can be c

289 testinal tract inflammation in patients with FHL-5.

290 proteins were overexpressed in patients with FHL.

291 tiation were down-regulated in patients with FHL.

292 ssible in more than 90% of our patients with FHL.

293 ase in growth rate relative to cells without FHL.

294 ry anal sphincter contraction occurs without FHL contraction.