Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome (Q38050085)

27 August 2017

title

Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome (English)

1 reference

27 August 2017

Gail E Herman

1

1 reference

27 August 2017

Lisa Kratz

series ordinal

2

1 reference

27 August 2017

publication date

5 October 2012

1 reference

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

27 August 2017

published in

1 reference

27 August 2017

volume

160C

1 reference

27 August 2017

issue

4

1 reference

27 August 2017

page(s)

301-321

1 reference

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

27 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

P450 oxidoreductase deficiency and Antley-Bixler syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Disruption of the gene encoding 3beta-hydroxysterol Delta-reductase (Tm7sf2) in mice does not impair cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Sterol, Structure and Membrane Function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Mutational spectrum of NSDHL in CHILD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

PORCN mutations in focal dermal hypoplasia: coping with lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Role of meiosis activating sterols, MAS, in induced oocyte maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Cholesterol synthesis inhibitor U18666A and the role of sterol metabolism and trafficking in numerous pathophysiological processes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/ mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. [email protected]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

A new autosomal recessive lethal chondrodystrophy with congenital hydrops

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The group of epidermal nevus syndromes Part I. Well defined phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The CHILD nevus: a distinct skin disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Congenital brain anomalies in distal cholesterol biosynthesis defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

X-Linked dominant disorders of cholesterol biosynthesis in man and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The granulocyte nucleus and lamin B receptor: avoiding the ovoid

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The human lamin B receptor/sterol reductase multigene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Defects in cholesterol synthesis genes in mouse and in humans: lessons for drug development and safer treatments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Chondrodysplasia punctata: a clinical diagnostic and radiological review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Squamous cell carcinoma arising in CHILD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Inborn errors of sterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Malformation syndromes caused by disorders of cholesterol synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Genes encoding chimeras of Neurospora crassa erg-3 and human TM7SF2 proteins fail to complement Neurospora and yeast sterol C-14 reductase mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

A novel X-chromosomal microdeletion encompassing congenital hemidysplasia with ichthyosiform erythroderma and limb defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Lanosterol 14alpha-demethylase and MAS sterols in mammalian gametogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Human lamin B receptor exhibits sterol C14-reductase activity in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The use of the Dhcr7 knockout mouse to accurately determine the origin of fetal sterols

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Functional X-chromosomal mosaicism of the skin: Rudolf Happle and the lines of Alfred Blaschko

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Relationship between sterol/steroid structure and participation in ordered lipid domains (lipid rafts): implications for lipid raft structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Generation of viable cholesterol-free mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Effect of the structure of natural sterols and sphingolipids on the formation of ordered sphingolipid/sterol domains (rafts). Comparison of cholesterol to plant, fungal, and disease-associated sterols and comparison of sphingomyelin, cerebrosides, a

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.C.31340

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31340

1 reference

27 August 2017

1 reference