Nature Search

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Michael K. Cooper
Christopher A. Wassif
Philip A. Beachy
Research24 Mar 2003
Nature Genetics

Volume: 33, P: 508-513
The LIM homeobox gene Lhx9 is essential for mouse gonad formation

Ohad S. Birk
Delane E. Casiano
Heiner Westphal
Research24 Feb 2000
Nature

Volume: 403, P: 909-913
Abnormal LDL Cholesterol Metabolism in Smith-Lemli-Opitz Fibroblasts † 741

Christopher A Wassif
Maria Tsokos
Forbes D Porter
Research01 Apr 1998
Pediatric Research

Volume: 43, P: 129
Cellular and Molecular Studies of Smith-Lemli-Opitz Syndrome

Forbes D Porter
Robert D Steiner
Christopher A Wassif
Research01 Apr 1999
Pediatric Research

Volume: 45, P: 140
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

Analysis of SLOS patient-derived iPSCs reveals that cellular accumulation of the cholesterol precursor 7DHC, rather than cholesterol deficiency, causes dysregulation of Wnt/β-catenin signaling and aberrant neural differentiation.

Kevin R Francis
Amy N Ton
Forbes D Porter
Research21 Mar 2016
Nature Medicine

Volume: 22, P: 388-396
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

Mark D. Levin
Simona Bianconi
Fady Hannah-Shmouni
Research28 May 2021
Genetics in Medicine

Volume: 23, P: 1864-1872
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Christopher A. Wassif
Joanna L. Cross
Forbes D. Porter
Research12 Mar 2015
Genetics in Medicine

Volume: 18, P: 41-48
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Elaine Tierney
Alan T. Remaley
Forbes D. Porter
ResearchOpen Access09 Sept 2021
Translational Psychiatry

Volume: 11, P: 1-13
Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation

Akiko Suzuki
Kenichi Ogata
Junichi Iwata
ResearchOpen Access02 Jan 2020
Bone Research

Volume: 8, P: 1-14
NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

Fay Probert
Victor Ruiz-Rodado
Martin Grootveld
ResearchOpen Access24 Jul 2017
Scientific Reports

Volume: 7, P: 1-12
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome

Christopher A. Wassif
Lisa Kratz
Forbes D. Porter
Research11 Aug 2016
Genetics in Medicine

Volume: 19, P: 297-305
Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health

Louise S Merkens
Christopher Wassif
Robert D Steiner
Research01 May 2009
Genetics in Medicine

Volume: 11, P: 359-364

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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

Abnormal LDL Cholesterol Metabolism in Smith-Lemli-Opitz Fibroblasts † 741

Cellular and Molecular Studies of Smith-Lemli-Opitz Syndrome

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

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

Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formation

NMR analysis reveals significant differences in the plasma metabolic profiles of Niemann Pick C1 patients, heterozygous carriers, and healthy controls

A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health

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