Lista de obras - Ashleigh Schaffer - Dominio Público Uruguay

A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels.

artículo científico publicado en 2010

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

artículo científico publicado en 2012

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

artículo científico publicado en 2015

An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

artículo científico publicado en 2020

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

scientific article published on 21 May 2020

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

artículo científico publicado en 2018

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

artículo científico publicado en 2015

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

artículo científico publicado en 2017

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

artículo científico publicado en 2014

Exome sequencing can improve diagnosis and alter patient management

artículo científico publicado en 2012

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.

artículo científico publicado en 2015

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

artículo científico publicado en 2014

Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors.

artículo científico publicado en 2010

Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity

artículo científico publicado en 2013

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

artículo científico publicado en 2014

Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish

artículo científico publicado en 2005

Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas.

artículo científico publicado en 2011

The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells

artículo científico publicado en 2007

Transgenic overexpression of the transcription factor Nkx6.1 in β-cells of mice does not increase β-cell proliferation, β-cell mass, or improve glucose clearance.

artículo científico publicado en 2011

Lista de obras de Ashleigh Schaffer

A Drosophila behavioral mutant, down and out (dao), is defective in an essential regulator of Erg potassium channels.

A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

An epilepsy-associated ACTL6B variant captures neuronal hyperexcitability in a human induced pluripotent stem cell model

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

Exome sequencing can improve diagnosis and alter patient management

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.

Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors

Nkx6 transcription factors and Ptf1a function as antagonistic lineage determinants in multipotent pancreatic progenitors.

Nkx6.1 controls a gene regulatory network required for establishing and maintaining pancreatic Beta cell identity

Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Requirements for endoderm and BMP signaling in sensory neurogenesis in zebrafish

Sox9+ ductal cells are multipotent progenitors throughout development but do not produce new endocrine cells in the normal or injured adult pancreas.

The transcription factors Nkx6.1 and Nkx6.2 possess equivalent activities in promoting beta-cell fate specification in Pdx1+ pancreatic progenitor cells

Transgenic overexpression of the transcription factor Nkx6.1 in β-cells of mice does not increase β-cell proliferation, β-cell mass, or improve glucose clearance.