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Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR

Cell reports (Cambridge), 2015-09, Vol.12 (11), p.1927-1938

2015

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Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain

Neurobiology of disease, 2016-07, Vol.91, p.69-82

2016

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Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

The Journal of clinical investigation, 2011-03, Vol.121 (3), p.976-984

2011

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Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Translational psychiatry, 2021-09, Vol.11 (1), p.471-471, Article 471

2021

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Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo

PLoS genetics, 2011-09, Vol.7 (9), p.e1002224

2011

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Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes

Oncotarget, 2016-05, Vol.7 (21), p.30379-30395

2016

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Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

Molecular genetics and metabolism, 2012-03, Vol.105 (3), p.416-420

2012

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A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly

Bone (New York, N.Y.), 2020-12, Vol.141, p.115601-115601, Article 115601

2020

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Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

Journal of inherited metabolic disease, 2010-08, Vol.33 (4), p.437-443

2010

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2-Ethylhexanoic acid, found in common plasticizers, leads to an artificial increase in C8 acylcarnitine levels in two neonates treated with extracorporeal membrane oxygenation (ECMO)

Clinica chimica acta, 2016-10, Vol.461, p.59-60

2016

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Elevated creatinine in a patient on IVIG-therapy

Clinica chimica acta, 2018-11, Vol.486, p.94-97

2018

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Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner

Hepatology (Baltimore, Md.), 2012-07, Vol.56 (1), p.49-56

2012

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Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Orphanet journal of rare diseases, 2014-06, Vol.9 (1), p.94-94, Article 94

2014

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Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge

Journal of lipid research, 2003-06, Vol.44 (6), p.1143-1155

2003

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Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome

BMJ case reports, 2020-11, Vol.13 (11), p.e236859

2020

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A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

Development (Cambridge), 2010-08, Vol.137 (15), p.2587-2596

2010

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Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)

American journal of medical genetics. Part A, 2007-09, Vol.143A (18), p.2129-2136

2007

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Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome

Prenatal diagnosis, 2006-09, Vol.26 (9), p.842-849

2006

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MALE EBP DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

Molecular genetics and metabolism, 2023-03, Vol.138 (3)

2023

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MALE  DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107407, Article 107407

2023

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Valproic Acid Prevents Brain Injury in a Canine Model of Hypothermic Circulatory Arrest: A Promising New Approach to Neuroprotection During Cardiac Surgery

The Annals of thoracic surgery, 2006-06, Vol.81 (6), p.2235-2242

2006

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Equine Type Estrogens Produced by a Pregnant Woman Carrying a Smith-Lemli-Opitz Syndrome Fetus

The journal of clinical endocrinology and metabolism, 1999-03, Vol.84 (3), p.1157-1159

1999

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Midgestational maternal urine steroid markers of fetal Smith–Lemli–Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency)

Steroids, 1999-07, Vol.64 (7), p.446-452

1999

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Abstract B25: Novel hepatic phenotypes caused by conditional c-Myc deletion

Molecular cancer research, 2016-01, Vol.14 (1_Supplement), p.B25-B25

2016

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Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation

Abnormal lipid processing but normal long-term repopulation potential of myc-/- hepatocytes

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly

Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children

2-Ethylhexanoic acid, found in common plasticizers, leads to an artificial increase in C8 acylcarnitine levels in two neonates treated with extracorporeal membrane oxygenation (ECMO)

Elevated creatinine in a patient on IVIG-therapy

Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Response of obligate heterozygotes for phytosterolemia to a low-fat diet and to a plant sterol ester dietary challenge

Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome

A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS)

Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome

MALE EBP DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

MALE  DISORDER WITH NEUROLOGIC DEFECTS: IS METABOLIC TESTING ENOUGH FOR VARIANT RECLASSIFICATION?

Valproic Acid Prevents Brain Injury in a Canine Model of Hypothermic Circulatory Arrest: A Promising New Approach to Neuroprotection During Cardiac Surgery

Equine Type Estrogens Produced by a Pregnant Woman Carrying a Smith-Lemli-Opitz Syndrome Fetus

Midgestational maternal urine steroid markers of fetal Smith–Lemli–Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency)

Abstract B25: Novel hepatic phenotypes caused by conditional c-Myc deletion

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