SwePub
Sök i LIBRIS databas

  Utökad sökning

onr:"swepub:oai:DiVA.org:uu-304521"
 

Sökning: onr:"swepub:oai:DiVA.org:uu-304521" > 1p13.2 deletion dis...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004514naa a2200493 4500
001oai:DiVA.org:uu-304521
003SwePub
008161006s2016 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3045212 URI
0247 a https://doi.org/10.1590/1678-4685-GMB-2016-00492 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Linhares, Natalia Duarteu Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil.4 aut
2451 0a 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
264 1c 2016
338 a electronic2 rdacarrier
520 a Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaper0 (SwePub)3012 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicine0 (SwePub)3012 hsv//eng
653 a 1p13.2 deletion
653 a Noonan syndrome type 6
653 a NRAS gene
653 a RASopathy
653 a unmasking heterozygosity
7001 a Menezes Freire, Maira Cristinau Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil.4 aut
7001 a do Carmo Lisboa Cardenas, Raony Guimaraes Correau Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil.4 aut
7001 a Pena, Heloisa Barbosau Lab Gene Nucl Genet Med, Belo Horizonte, MG, Brazil.4 aut
7001 a Lachlan, Katherineu Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England.4 aut
7001 a Dallapiccola, Brunou Bambino Gesu Children Hosp, Rome, Italy.4 aut
7001 a Bacino, Carlosu Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA.4 aut
7001 a Delobel, Brunou Hop St Vincent de Paul, GH Inst Catholique Lille, Ctr Genet Chromos, Lille, France.4 aut
7001 a James, Paulu Victorian Clin Genet Serv, Melbourne, Vic, Australia.4 aut
7001 a Thuresson, Ann-Charlotteu Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)anncthur
7001 a Annerén, Göranu Uppsala universitet,Institutionen för immunologi, genetik och patologi4 aut0 (Swepub:uu)goraanne
7001 a Pena, Sergio D. J.u Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil.;Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil.;Lab Gene Nucl Genet Med, Belo Horizonte, MG, Brazil.4 aut
7102 a Univ Fed Minas Gerais, Fac Med, Lab Genom Clin, Belo Horizonte, MG, Brazil.b Univ Fed Minas Gerais, Inst Ciencias Biol, Dept Bioquim & Imunol, Belo Horizonte, MG, Brazil.4 org
7730 t Genetics and Molecular Biologyg 39:3, s. 349-357q 39:3<349-357x 1415-4757x 1678-4685
8564 u https://doi.org/10.1590/1678-4685-GMB-2016-0049y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1034472/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-304521
8564 8u https://doi.org/10.1590/1678-4685-GMB-2016-0049

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy