Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
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Hidden disease susceptibility and sexual dimorphism in the heterozygous knockout of Cyp51 from cholesterol synthesisSignificant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryosA detailed genome-wide reconstruction of mouse metabolism based on human Recon 1.Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeMalformation syndromes caused by disorders of cholesterol synthesis.Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolismAnalysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.Adjusting diet with sapropterin in phenylketonuria: what factors should be considered?Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians.
P2860
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P2860
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 04 July 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Developmental expression patte ...... cells in the heterozygous Bpa
@nl
Developmental expression patte ...... heterozygous Bpa(1H)/+ mouse.
@en
type
label
Developmental expression patte ...... cells in the heterozygous Bpa
@nl
Developmental expression patte ...... heterozygous Bpa(1H)/+ mouse.
@en
prefLabel
Developmental expression patte ...... cells in the heterozygous Bpa
@nl
Developmental expression patte ...... heterozygous Bpa(1H)/+ mouse.
@en
P2093
P2860
P1476
Developmental expression patte ...... heterozygous Bpa(1H)/+ mouse.
@en
P2093
Cornelius F Boerkoel
David Cunningham
Gail E Herman
Kaitlyn Spychala
Keith W McLarren
Luis A Garza
P2860
P304
P356
10.1016/J.YMGME.2009.06.016
P577
2009-07-04T00:00:00Z