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Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?

International journal of molecular sciences, 2019-08, Vol.20 (16), p.3858

2019

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Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay

Scientific reports, 2020-11, Vol.10 (1), p.20738-20738, Article 20738

2020

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Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

International journal of molecular sciences, 2020-09, Vol.21 (18), p.6807

2020

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Genetic variations related to inflammation in suicidal ideation and behavior: A systematic review

Frontiers in psychiatry, 2022-10, Vol.13, p.1003034-1003034

2022

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Spinal Motoneuron TMEM16F Acts at C-boutons to Modulate Motor Resistance and Contributes to ALS Pathogenesis

Cell reports (Cambridge), 2020-02, Vol.30 (8), p.2581-2593.e7

2020

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Pregnane × Receptor (PXR) expression in colorectal cancer cells restricts irinotecan chemosensitivity through enhanced SN-38 glucuronidation

Molecular cancer, 2010-03, Vol.9 (1), p.46-46, Article 46

2010

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Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

Frontiers in neuroscience, 2020-04, Vol.14, p.316-316

2020

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Clinical relevance of nine transcriptional molecular markers for the diagnosis of head and neck squamous cell carcinoma in tissue and saliva rinse

BMC cancer, 2009-10, Vol.9 (1), p.370-370, Article 370

2009

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Polymorphisms in SLCO1B3 and NR1I2 as genetic determinants of hematotoxicity of carboplatin and paclitaxel combination

Pharmacogenomics, 2015-08, Vol.16 (13), p.1439-1450

2015

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Hepatic Expression of Thyroid Hormone-Responsive Spot 14 Protein Is Regulated by Constitutive Androstane Receptor (NR1I3)

Endocrinology (Philadelphia), 2010-04, Vol.151 (4), p.1653-1661

2010

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Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling

The journal of clinical endocrinology and metabolism, 2005-01, Vol.90 (1), p.106-111

2005

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Activating Mutations of the Stimulatory G Protein in Juvenile Ovarian Granulosa Cell Tumors: A New Prognostic Factor?

The journal of clinical endocrinology and metabolism, 2006-05, Vol.91 (5), p.1842-1847

2006

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Gene expression profiling in head and neck squamous cell carcinoma: Clinical perspectives

Head & neck, 2010-12, Vol.32 (12), p.1712-1719

2010

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A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia

BMC medical genetics, 2011-10, Vol.12 (1), p.145-145, Article 145

2011

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Discovering the ANK2‐related autism phenotype

Clinical genetics, 2023-09, Vol.104 (3), p.384-386

2023

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A new approach to assessing calcium status via a machine learning algorithm

Clinica chimica acta, 2023-01, Vol.539, p.198-205

2023

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Coexpression of Wilms’ tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1

Journal of molecular endocrinology, 2007-05, Vol.38 (5), p.547-554

2007

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Potential action of IGF-1 and EGF on androgen receptor nuclear transfer and transactivation in normal and cancer human prostate cell lines

Molecular and cellular endocrinology, 2002-12, Vol.198 (1), p.105-114

2002

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Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2022-07, Vol.23 (5-6), p.473-475

2022

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Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation

Fertility and sterility, 2007-11, Vol.88 (5), p.1437.e21-1437.e25

2007

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Activating Gsα Mutations: Analysis of 113 Patients with Signs of McCune-Albright Syndrome—A European Collaborative Study

The journal of clinical endocrinology and metabolism, 2004-05, Vol.89 (5), p.2107-2113

2004

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Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2022-07, Vol.23 (5-6), p.458-461

2022

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Liver X receptors: from cholesterol regulation to neuroprotection—a new barrier against neurodegeneration in amyotrophic lateral sclerosis?

Cellular and Molecular Life Sciences, 2016-10, Vol.73 (20), p.3801-3808

2016

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Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

Journal of neurology, neurosurgery and psychiatry, 2024-03, Vol.95 (3), p.288

2024

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Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2022-07, Vol.23 (5-6), p.470-472

2022

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Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?

Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

Genetic variations related to inflammation in suicidal ideation and behavior: A systematic review

Spinal Motoneuron TMEM16F Acts at C-boutons to Modulate Motor Resistance and Contributes to ALS Pathogenesis

Pregnane × Receptor (PXR) expression in colorectal cancer cells restricts irinotecan chemosensitivity through enhanced SN-38 glucuronidation

Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort

Clinical relevance of nine transcriptional molecular markers for the diagnosis of head and neck squamous cell carcinoma in tissue and saliva rinse

Polymorphisms in SLCO1B3 and NR1I2 as genetic determinants of hematotoxicity of carboplatin and paclitaxel combination

Hepatic Expression of Thyroid Hormone-Responsive Spot 14 Protein Is Regulated by Constitutive Androstane Receptor (NR1I3)

Androgen Insensitivity Syndrome: Somatic Mosaicism of the Androgen Receptor in Seven Families and Consequences for Sex Assignment and Genetic Counseling

Activating Mutations of the Stimulatory G Protein in Juvenile Ovarian Granulosa Cell Tumors: A New Prognostic Factor?

Gene expression profiling in head and neck squamous cell carcinoma: Clinical perspectives

A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia

Discovering the ANK2‐related autism phenotype

A new approach to assessing calcium status via a machine learning algorithm

Coexpression of Wilms’ tumor suppressor 1 (WT1) and androgen receptor (AR) in the genital tract of human male embryos and regulation of AR promoter activity by WT1

Potential action of IGF-1 and EGF on androgen receptor nuclear transfer and transactivation in normal and cancer human prostate cell lines

Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation

Activating Gsα Mutations: Analysis of 113 Patients with Signs of McCune-Albright Syndrome—A European Collaborative Study

Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case

Liver X receptors: from cholesterol regulation to neuroprotection—a new barrier against neurodegeneration in amyotrophic lateral sclerosis?

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

Amyotrophic lateral sclerosis associated with a pathological expansion in the ATXN7 gene

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