Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.
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L-leucine partially rescues translational and developmental defects associated with zebrafish models of Cornelia de Lange syndrome.Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.A zebrafish model of Poikiloderma with Neutropenia recapitulates the human syndrome hallmarks and traces back neutropenia to the myeloid progenitor.Etiology and pathogenesis of the cohesinopathies.How many roads lead to cohesinopathies?Inflammation modulates LC3 expression in human preterm delivery.SMADs and YAP compete to control elongation of β-catenin:LEF-1-recruited RNAPII during hESC differentiation.HDAC8 and STAT3 repress BMF gene activity in colon cancer cells.Zebrafish as a Model to Study Cohesin and Cohesinopathies.CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts
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P2860
Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 17 October 2013
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Cornelia de Lange Syndrome: NI ...... ryos and patients fibroblasts.
@en
Cornelia de Lange Syndrome: NI ...... ryos and patients fibroblasts.
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type
label
Cornelia de Lange Syndrome: NI ...... ryos and patients fibroblasts.
@en
Cornelia de Lange Syndrome: NI ...... ryos and patients fibroblasts.
@nl
prefLabel
Cornelia de Lange Syndrome: NI ...... ryos and patients fibroblasts.
@en
Cornelia de Lange Syndrome: NI ...... ryos and patients fibroblasts.
@nl
P2093
P2860
P50
P356
P1476
Cornelia de Lange Syndrome: NI ...... ryos and patients fibroblasts.
@en
P2093
P2860
P356
10.1038/CDDIS.2013.371
P577
2013-10-17T00:00:00Z