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Enhancement of intestinal growth and repair by growth factors

Current Opinion in Pharmacology, 2001-12, Vol.1 (6), p.568-574

2001

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Systemically but not orogastrically delivered insulin-like growth factor (IGF)-I and long [Arg3]IGF-I stimulates intestinal disaccharidase activity in two age groups of suckling rats

Pediatric research, 1998-11, Vol.44 (5), p.663-672

1998

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Preferential Intestinal Delivery of Long[Arg3] Insulin-Like Growth Factor (LR3IGF-I) over IGF-I in Preweaning and Adult Rats

Endocrinology (Philadelphia), 2003-05, Vol.144 (5), p.1887-1893

2003

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The genetic landscape of intellectual disability arising from chromosome X

Trends in genetics, 2009-07, Vol.25 (7), p.308-316

2009

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ARX spectrum disorders: making inroads into the molecular pathology

Human mutation, 2010-08, Vol.31 (8), p.889-900

2010

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Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

Frontiers in genetics, 2016-10, Vol.7, p.183-183

2016

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IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy

Human mutation, 2019-01, Vol.40 (1), p.5-24

2019

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Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX)

Neurobiology of disease, 2021-06, Vol.153, p.105329, Article 105329

2021

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Polyalanine tract disorders and neurocognitive phenotypes

Advances in experimental medicine and biology, 2012-01, Vol.769, p.185

2012

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Epilepsia (Copenhagen), 2016-11, Vol.57 (11), p.1858-1869

2016

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Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene

Human molecular genetics, 2016-12, Vol.25 (24), p.5433-5443

2016

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Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

PloS one, 2018-11, Vol.13 (11), p.e0206914-e0206914

2018

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REPRODUCTIVE AGEING: BGP-15 mitigates adverse impacts of aging on sperm quality, fertility, and offspring health in male mice

Reproduction (Cambridge, England), 2024-09, Vol.168 (3)

2024

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A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

American journal of human genetics, 2012-10, Vol.91 (4), p.694-702

2012

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IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain

Clinical genetics, 2022-07, Vol.102 (1), p.72-77

2022

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Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Nature genetics, 2010-06, Vol.42 (6), p.486-488

2010

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Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

Human molecular genetics, 2014-02, Vol.23 (4), p.1084-1094

2014

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Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy

Neurobiology of disease, 2017-09, Vol.105, p.245-256

2017

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Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

European journal of human genetics : EJHG, 2017-06, Vol.25 (6), p.763-767

2017

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ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

Human molecular genetics, 2012-04, Vol.21 (7), p.1639-1647

2012

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Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

Human molecular genetics, 2019-12, Vol.28 (24), p.4089-4102

2019

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Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation

BMC genomics, 2017-01, Vol.18 (1), p.10-10, Article 10

2017

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An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX

Human mutation, 2017-05, Vol.38 (5), p.548-555

2017

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Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

Enhancement of intestinal growth and repair by growth factors

Systemically but not orogastrically delivered insulin-like growth factor (IGF)-I and long [Arg3]IGF-I stimulates intestinal disaccharidase activity in two age groups of suckling rats

Preferential Intestinal Delivery of Long[Arg3] Insulin-Like Growth Factor (LR3IGF-I) over IGF-I in Preweaning and Adult Rats

The genetic landscape of intellectual disability arising from chromosome X

ARX spectrum disorders: making inroads into the molecular pathology

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy

Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX)

Polyalanine tract disorders and neurocognitive phenotypes

The molecular and phenotypic spectrum of IQSEC2‐related epilepsy

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

REPRODUCTIVE AGEING: BGP-15 mitigates adverse impacts of aging on sperm quality, fertility, and offspring health in male mice

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

IQSEC2‐related encephalopathy in males due to missense variants in the pleckstrin homology domain

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

Placental transcriptome co-expression analysis reveals conserved regulatory programs across gestation

An Emerging Female Phenotype with Loss‐of‐Function Mutations in the Aristaless‐Related Homeodomain Transcription Factor ARX

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