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List of works by Elly Sau-Wai Ngan

A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma

scientific journal article

CDK1-PDK1-PI3K/Akt signaling pathway regulates embryonic and induced pluripotency

scientific article published on 16 September 2016

Caveolin‐1 overexpression is associated with hepatocellular carcinoma tumourigenesis and metastasis ⬇️

scientific article published on January 4, 2012

Cdc25B Functions as a Novel Coactivator for the Steroid Receptors ⬇️

scientific article published on December 1, 2001

Common genetic variants regulating ADD3 gene expression alter biliary atresia risk.

scientific article published on 19 July 2013

Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.

scientific article

Dual Regulatory Functions of SUFU and Targetome of GLI2 in SHH Subgroup Medulloblastoma

scientific article published on 13 December 2018

Dysregulation of clathrin promotes thyroid cell growth and contributes to multinodular goiter pathogenesis

scientific article published on 13 May 2015

Efficacy of annexin A3 blockade in sensitizing hepatocellular carcinoma to sorafenib and regorafenib

scientific article published on 07 June 2018

Fine mapping of the NRG1 Hirschsprung's disease locus

scientific article

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

scientific journal article

Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2

Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2.

scientific article

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3

scientific article

Genome-wide copy number variation study in anorectal malformations.

scientific article published on 29 October 2012

Hedgehog and Notch signaling in enteric nervous system development.

scientific article published on 14 December 2013

Hedgehog/Notch-induced premature gliogenesis represents a new disease mechanism for Hirschsprung disease in mice and humans

scientific article

Heterogeneity of neuroblastoma

scientific article published on 24 August 2015

Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice.

scientific article published on 7 August 2015

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development

scientific article published on 12 September 2018

Identification of a HOXD13 mutation in a VACTERL patient

scientific article published on 01 December 2008

Krüppel-like factor 4 (KLF4) suppresses neuroblastoma cell growth and determines non-tumorigenic lineage differentiation.

scientific article

MNX1 (HLXB9) mutations in Currarino patients

scientific article published on 01 October 2009

Mapping of a Hirschsprung's disease locus in 3p21

scientific article published on 20 February 2008

Mutations in the NRG1 gene are associated with Hirschsprung disease

article

Pluripotent stem cell for modeling neurological diseases.

scientific article

Potential use of skin-derived precursors (SKPs) in establishing a cell-based treatment model for Hirschsprung's disease.

scientific article published in March 2013

Prokineticin signaling is required for the maintenance of a de novo population of c-KIT⁺ cells to sustain neuroblastoma progression

scientific article published on 17 March 2014

Prokineticin-1 (Prok-1) works coordinately with glial cell line-derived neurotrophic factor (GDNF) to mediate proliferation and differentiation of enteric neural crest cells.

scientific article published on 4 October 2007

Prokineticin-1 modulates proliferation and differentiation of enteric neural crest cells

scientific article published on 02 February 2007

RET and NRG1 interplay in Hirschsprung disease.

scientific article published on 12 February 2013

RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

scientific article

Sonic Hedgehog Signaling and VACTERL Association ⬇️

scientific article published on February 1, 2013

Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing

scientific article published on 26 February 2018

Update on the Role of Stem Cells in the Treatment of Hirschsprung Disease.

scientific article published on 24 April 2018

White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies

scientific article

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

scientific article

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

scientific article published on 28 November 2022

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