|
|
|
|
| LEADER |
01000naa a22002652 4500 |
| 001 |
NLM273457993 |
| 003 |
DE-627 |
| 005 |
20231225001257.0 |
| 007 |
cr uuu---uuuuu |
| 008 |
231225s2017 xx |||||o 00| ||eng c |
| 024 |
7 |
|
|a 10.1016/j.clim.2017.06.009
|2 doi
|
| 028 |
5 |
2 |
|a pubmed24n0911.xml
|
| 035 |
|
|
|a (DE-627)NLM273457993
|
| 035 |
|
|
|a (NLM)28668589
|
| 035 |
|
|
|a (PII)S1521-6616(16)30574-5
|
| 040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
| 041 |
|
|
|a eng
|
| 100 |
1 |
|
|a Agrebi, N
|e verfasserin
|4 aut
|
| 245 |
1 |
0 |
|a Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome
|
| 264 |
|
1 |
|c 2017
|
| 336 |
|
|
|a Text
|b txt
|2 rdacontent
|
| 337 |
|
|
|a ƒaComputermedien
|b c
|2 rdamedia
|
| 338 |
|
|
|a ƒa Online-Ressource
|b cr
|2 rdacarrier
|
| 500 |
|
|
|a Date Completed 21.11.2017
|
| 500 |
|
|
|a Date Revised 06.02.2018
|
| 500 |
|
|
|a published: Print-Electronic
|
| 500 |
|
|
|a Citation Status MEDLINE
|
| 520 |
|
|
|a Copyright © 2017 Elsevier Inc. All rights reserved.
|
| 520 |
|
|
|a Autoimmune lymphoproliferative syndrome (ALPS) is a prototypic disorder of impaired apoptosis characterized by autoimmune features and lymphoproliferation. Heterozygous germline or somatic FAS mutations associated with preserved protein expression have been described. Very rare cases of homozygous germline FAS mutations causing severe autosomal recessive form of ALPS with a complete defect of Fas expression have been reported. We report two unrelated patients from highly inbred North African population showing a severe ALPS phenotype and an undetectable Fas surface expression. Two novel homozygous mutations have been identified underlying rare splicing defects mechanisms. The first mutation breaks a branch point sequence and the second alters a regulatory exonic splicing site. These splicing defects induce the skipping of exon 6 encoding the transmembrane domain of CD95. Our findings highlight the requirement of tight regulation of FAS exon 6 splicing for balanced alternative splicing and illustrate the importance of such studies in highly consanguineous populations
|
| 650 |
|
4 |
|a Journal Article
|
| 650 |
|
4 |
|a Research Support, Non-U.S. Gov't
|
| 650 |
|
4 |
|a Alps
|
| 650 |
|
4 |
|a Autosomal recessive
|
| 650 |
|
4 |
|a Consanguinity
|
| 650 |
|
4 |
|a FAS
|
| 650 |
|
4 |
|a Splicing
|
| 650 |
|
7 |
|a FAS protein, human
|2 NLM
|
| 650 |
|
7 |
|a FASLG protein, human
|2 NLM
|
| 650 |
|
7 |
|a Fas Ligand Protein
|2 NLM
|
| 650 |
|
7 |
|a IL10 protein, human
|2 NLM
|
| 650 |
|
7 |
|a fas Receptor
|2 NLM
|
| 650 |
|
7 |
|a Interleukin-10
|2 NLM
|
| 650 |
|
7 |
|a 130068-27-8
|2 NLM
|
| 700 |
1 |
|
|a Ben-Mustapha, I
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Matoussi, N
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Dhouib, N
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Ben-Ali, M
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Mekki, N
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Ben-Ahmed, M
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Larguèche, B
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Ben Becher, S
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Béjaoui, M
|e verfasserin
|4 aut
|
| 700 |
1 |
|
|a Barbouche, M R
|e verfasserin
|4 aut
|
| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 183(2017) vom: 01. Okt., Seite 17-23
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
|
| 773 |
1 |
8 |
|g volume:183
|g year:2017
|g day:01
|g month:10
|g pages:17-23
|
| 856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2017.06.009
|3 Volltext
|
| 912 |
|
|
|a GBV_USEFLAG_A
|
| 912 |
|
|
|a SYSFLAG_A
|
| 912 |
|
|
|a GBV_NLM
|
| 912 |
|
|
|a GBV_ILN_11
|
| 912 |
|
|
|a GBV_ILN_24
|
| 912 |
|
|
|a GBV_ILN_350
|
| 951 |
|
|
|a AR
|
| 952 |
|
|
|d 183
|j 2017
|b 01
|c 10
|h 17-23
|