SwePub
Sök i LIBRIS databas

  Utökad sökning

id:"swepub:oai:DiVA.org:uu-264631"
 

Sökning: id:"swepub:oai:DiVA.org:uu-264631" > WNT3 involvement in...

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish

Korberg, Izabella Baranowska (författare)
Karolinska Inst, Dept Womens & Childrens Hlth, SE-17176 Stockholm, Sweden.;Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Dept Clin Genet, SE-17176 Stockholm, Sweden.
Hofmeister, Wolfgang (författare)
Karolinska Institutet,Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.;Karolinska Inst, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden.
Markljung, Ellen (författare)
Karolinska Institutet,Karolinska Inst, Dept Womens & Childrens Hlth, SE-17176 Stockholm, Sweden.;Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.
visa fler...
Cao, Jia (författare)
Karolinska Inst, Dept Womens & Childrens Hlth, SE-17176 Stockholm, Sweden.;Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.
Nilsson, Daniel (författare)
Karolinska Institutet,Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.;Karolinska Inst, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Dept Clin Genet, SE-17176 Stockholm, Sweden.;Karolinska Inst Sci Pk, Sci Life Lab, SE-17165 Stockholm, Sweden.
Ludwig, Michael (författare)
Univ Bonn, Childrens Hosp, Dept Clin Chem & Clin Pharmacol, D-53127 Bonn, Germany.
Draaken, Markus (författare)
Univ Bonn, Childrens Hosp, Inst Human Genet, D-53127 Bonn, Germany.;Univ Bonn, Childrens Hosp, Life & Brain Ctr, Dept Genom, D-53127 Bonn, Germany.
Holmdahl, Gundela (författare)
Queen Silvias Childrens Hosp, Dept Pediat Surg, SE-41685 Gothenburg, Sweden.
Barker, Gillian (författare)
Uppsala universitet,Barnkirurgi
Reutter, Heiko (författare)
Univ Bonn, Childrens Hosp, Inst Human Genet, D-53127 Bonn, Germany.;Univ Bonn, Childrens Hosp, Dept Neonatol, D-53127 Bonn, Germany.
Vukojevic, Vladana (författare)
Karolinska Institutet,Karolinska Inst, Dept Clin Neurosci, Ctr Mol Med, SE-17176 Stockholm, Sweden.
Clementson Kockum, Christina (författare)
Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Univ Lund Hosp, Dept Pediat Surg, SE-22185 Lund, Sweden.
Lundin, Johanna (författare)
Karolinska Institutet,Karolinska Inst, Dept Womens & Childrens Hlth, SE-17176 Stockholm, Sweden.;Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Dept Clin Genet, SE-17176 Stockholm, Sweden.
Lindstrand, Anna (författare)
Karolinska Institutet,Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.;Karolinska Inst, Dept Mol Med & Surg, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Dept Clin Genet, SE-17176 Stockholm, Sweden.
Nordenskjold, Agneta (författare)
Karolinska Institutet,Karolinska Inst, Dept Womens & Childrens Hlth, SE-17176 Stockholm, Sweden.;Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Pediat Surg, SE-17176 Stockholm, Sweden.
visa färre...
Karolinska Institutet Karolinska Inst, Dept Womens & Childrens Hlth, SE-17176 Stockholm, Sweden;Karolinska Inst, Ctr Mol Med, SE-17176 Stockholm, Sweden.;Karolinska Univ Hosp, Astrid Lindgren Children Hosp, Dept Clin Genet, SE-17176 Stockholm, Sweden. (creator_code:org_t)
2015-06-23
2015
Engelska.
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:18, s. 5069-5078
Relaterad länk:
https://academic.oup...
visa fler...
http://www.ncbi.nlm....
http://dx.doi.org/10...
https://urn.kb.se/re...
https://doi.org/10.1...
https://lup.lub.lu.s...
http://kipublication...
visa färre...
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Bladder exstrophy, a severe congenital urological malformation when a child is born with an open urinary bladder, is the most common form of bladder exstrophy-epispadias complex (BEEC) with an incidence of 1: 30,000 children of Caucasian descent. Recent studies suggest that WNT genes may contribute to the etiology of bladder exstrophy. Here, we evaluated WNT-pathway genes in 20 bladder exstrophy patients using massively parallel sequencing. In total 13 variants were identified in WNT3, WNT6, WNT7A, WNT8B, WNT10A, WNT11, WNT16, FZD5, LRP1 and LRP10 genes and predicted as potentially disease causing, of which seven variants were novel. One variant, identified in a patient with a de novo nonsynonymous substitution in WNT3 (p.Cys91Arg), was further evaluated in zebrafish. Knock down of wnt3 in zebrafish showed cloaca malformations, including disorganization of the cloaca epithelium and expansion of the cloaca lumen. Our study suggests that the function of the WNT3 p.Cys91Arg variant was altered, since RNA overexpression of mutant Wnt3 RNA does not result in embryonic lethality as seen with wild-type WNT3 mRNA. Finally, we also mutation screened the WNT3 gene further in 410 DNA samples from BEEC cases and identified one additional mutation c.638G> A (p.Gly213Asp), which was paternally inherited. In aggregate our data support the involvement of WNT-pathway genes in BEEC and suggest that WNT3 in itself is a rare cause of BEEC.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

Publikations- och innehållstyp

ref (ämneskategori)
art (ämneskategori)

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