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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
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- 1 - 6 (6page)
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Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent. This set of symptoms strikingly mimics previously reported mouse Podxl−/− embryos, emphasizing the essential function of PODXL in mammalian kidney development and highlighting this patient as a human PODXL-null model.
The results underscore the utility of current genomics approaches to provide insights into the genetic mechanisms of human disease traits through molecular diagnosis.
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참고문헌 (25)
참고문헌 신청
Alsalem AB / 2013 / Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation / PLoS Genet 9 : e100403
Barua M / 2014 / Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis / Kidney Int 85 : 124 ~ 133
Boute N / 2000 / NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome / Nat Genet 24 : 349 ~ 354
Choi HJ / 2008 / Variable phenotype of Pierson syndrome / Pediatr Nephrol 23 : 995 ~ 1000
Dekan G / 1991 / Sulfate contributes to the negative charge of podocalyxin, the major sialoglycoprotein of the glomerular filtration slits / Proc Natl Acad Sci USA 88 : 5398
Barua M / 2014 / Exome sequencing and in vitro studies identified podocalyxin as a candidate gene for focal and segmental glomerulosclerosis / Kidney Int 85 : 124 ~ 133
Boute N / 2000 / NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome / Nat Genet 24 : 349 ~ 354
Choi HJ / 2008 / Variable phenotype of Pierson syndrome / Pediatr Nephrol 23 : 995 ~ 1000
Dekan G / 1991 / Sulfate contributes to the negative charge of podocalyxin, the major sialoglycoprotein of the glomerular filtration slits / Proc Natl Acad Sci USA 88 : 5398
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