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231223s2006 xx ||||| 00| ||eng c |
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|a pubmed25n0545.xml
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|a (DE-627)NLM163579008
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|a (NLM)16781893
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Broides, Arnon
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region
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| 264 |
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1 |
|c 2006
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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| 338 |
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|a Band
|b nc
|2 rdacarrier
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| 500 |
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|a Date Completed 07.09.2006
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| 500 |
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|a Date Revised 10.12.2019
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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| 520 |
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|a We evaluated a baby boy with severe combined immunodeficiency (SCID) and X-linked nephrogenic diabetes insipidus (NDI). This patient had less than 10% CD3+ T cells, almost all of which were positive for CD4 and CD45RO. Genetic studies demonstrated a 34.4 kb deletion at Xq28 which included AVPR2, the gene responsible for NDI; ARHGAP4, a hematopoietic specific gene encoding a GTPase-activating protein; and a highly conserved segment of DNA between ARHGAP4 and ARD1A, a gene involved in the response to hypoxia. Other patients with NDI, but without immunodeficiency, have had deletions that remove all ARHGAP4 except exon 1; however, no other patients have had deletions of the highly conserved intragenic region between ARHGAP4 and ARD1A. X chromosome inactivation studies, done on sorted cells from the mother and grandmother of the patient, carriers of the deletion, demonstrated exclusive use of the non-mutant X chromosome as the active X in CD4 and CD8 T cells. Surprisingly, NK cells, monocytes and neutrophils from these women demonstrated preferential use of the mutant X chromosome as the active X. These results are consistent with an X-linked form of SCID, due to the loss of regulatory elements that control the response to hypoxia in hematopoietic cells
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| 650 |
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|a Case Reports
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|a Journal Article
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| 650 |
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|a Research Support, N.I.H., Extramural
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| 650 |
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|a Research Support, Non-U.S. Gov't
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| 650 |
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|a ARHGAP4 protein, human
|2 NLM
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| 650 |
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|a GTPase-Activating Proteins
|2 NLM
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| 650 |
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|a Neural Cell Adhesion Molecule L1
|2 NLM
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| 650 |
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|a Receptors, Vasopressin
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| 650 |
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|a Acetyltransferases
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| 650 |
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|2 NLM
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| 650 |
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|a NAA10 protein, human
|2 NLM
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| 650 |
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|a EC 2.3.1.255
|2 NLM
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| 650 |
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|a N-Terminal Acetyltransferase E
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| 650 |
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|a EC 2.3.1.258
|2 NLM
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| 700 |
1 |
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|a Ault, Bettina H
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Arthus, Marie-Françoise
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Bichet, Daniel G
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Conley, Mary Ellen
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 120(2006), 2 vom: 15. Aug., Seite 147-55
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnas
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| 773 |
1 |
8 |
|g volume:120
|g year:2006
|g number:2
|g day:15
|g month:08
|g pages:147-55
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| 912 |
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|a GBV_USEFLAG_A
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| 952 |
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|d 120
|j 2006
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