Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGFR inhibitors via increased EGFR degradation.
Cancer Discov., Nov (2012)
Disorders of sterol synthesis: Beyond Smith-Lemli-Opitz syndrome.
Am J Med Genet C Semin Med Genet., Nov;160C(4):301-21 (2012)
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay.
Am. J. Med. Genet. A., Feb;158A(2):391-9 (2012)
Chondrodysplasia Punctata 2, X-Linked
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Am. J. Med. Genet. A., Apr;155A(4):706-16 (2011)
Contactin 4 as an autism susceptibility locus.
Autism Res., Jun;4(3):189-99 (2011)
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am. J. Hum. Genet., Dec;87(6):905-14 (2010)
Malformation syndromes caused by disorders of cholesterol synthesis.
J. Lipid Res., Jan;52(1):6-34 (2011)
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
Autism Res., Jun;3(3):137-41 (2010)
A tale of two deletions: a report of two novel 20p13 --> pter deletions.
Am. J. Med. Genet. A., Apr;152A(4):1000-7 (2010)
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
Hum. Mol. Genet., Jan;19(2):364-73 (2010)
Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse.
Mol. Genet. Metab., Dec;98(4):356-66 (2009)
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
Genet. Med., Feb;11(2):111-7 (2009)
Genetic testing in autism: how much is enough?
Genet. Med., May;9(5):268-74 (2007)
CHILD syndrome: clinical picture and diagnostic procedures.
J Eur Acad Dermatol Venereol., May;21(5):715-6 (2007)
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
Am. J. Med. Genet. A., Mar;143(6):589-93 (2007)
Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
Hum. Mol. Genet., Nov;15(22):3293-305 (2006)
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
J. Pediatr., Jul;149(1):89-97 (2006)
Pbx1 and Meis1 regulate activity of the Xenopus laevis Zic3 promoter through a highly conserved region.
Biochem. Biophys. Res. Commun., Jun;344(3):1031-7 (2006)
Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.
J. Lipid Res., Jun;46(6):1150-62 (2005)
Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.
Mol. Genet. Metab., Jan;84(1):48-60 (2005)
Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.
Mol. Genet. Metab., 80(1-2):227-33 (2003 Sep-Oct)
NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.
Hum. Mol. Genet., Nov;12(22):2981-91 (2003)
Medical complications in long-term survivors with X-linked myotubular myopathy.
J. Pediatr., Feb;134(2):206-14 (1999)
Encyclopedia of the mouse genome VII. Mouse chromosome X.
Mamm. Genome., 8 Spec No:S361-77 (1998)
Physical mapping of the mouse genome.
Methods., Feb;14(2):135-51 (1998)
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.
Hum. Mol. Genet., Sep;6(9):1499-504 (1997)
Genomic structure of a novel LIM domain gene (ZNF185) in Xq28 and comparisons with the orthologous murine transcript.
Genomics., Aug;43(3):329-38 (1997)
Mouse X chromosome.
Mamm. Genome., 7 Spec No:S313-26 (1997)
Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.
Mamm. Genome., Aug;7(8):575-9 (1996)
A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28.
Genome Res., Jun;6(6):465-77 (1996)
The chromosome localization and the HCF repeats of the human host cell factor gene (HCFC1) are conserved in the mouse homologue.
Genomics., Mar;32(2):277-80 (1996)
Encyclopedia of the mouse genome V. Mouse X chromosome.
Mamm. Genome., 6 Spec No:S317-30 (1996)
Refined mapping of caltractin in human Xq28 and in the homologous region of the mouse X chromosome places the gene within the bare patches (Bpa) and striated (Str) critical regions.
Mamm. Genome., Nov;6(11):802-4 (1995)
Cloning and regional localization of the mouse faciogenital dysplasia (Fgd1) gene.
Mamm. Genome., Sep;6(9):658-61 (1995)
Genetic analyses of tattered, an X-linked dominant, developmental mouse mutation.
Mamm. Genome., Apr;6(4):291-4 (1995)
Endothelial nitric oxide synthase (Nos3) maps to the proximal region of mouse chromosome 5.
Mamm. Genome., Feb;6(2):152 (1995)
A YAC clone map spanning 7.5 megabases of human chromosome band Xq28.
Hum. Mol. Genet., Dec;3(12):2137-46 (1994)
Genetic and physical mapping of a gene encoding a methyl CpG binding protein, Mecp2, to the mouse X chromosome.
Genomics., Aug;22(3):648-51 (1994)
Comparative mapping of the actin-binding protein 280 genes in human and mouse.
Genomics., May;21(2):428-30 (1994)
A 2.3-Mb yeast artificial chromosome contig spanning from Gabra3 to G6pd on the mouse X chromosome.
Genomics., May;21(1):49-57 (1994)
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.
Pediatr. Neurol., Feb;10(1):49-53 (1994)
Mouse X chromosome.
Mamm. Genome., 5 Spec No:S276-88 (1994)
Cloning and characterization of the cDNA for the murine iduronate sulfatase gene.
Genomics., Jun;16(3):755-7 (1993)
Comparative mapping on the mouse and human X chromosomes of a human cDNA clone encoding the vasopressin renal-type receptor (AVP2R).
Genomics., Feb;15(2):439-41 (1993)
Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X chromosome: implications for mapping human disorders in Xq28.
Mamm. Genome., 4(3):171-6 (1993)
Encyclopedia of the mouse genome III. October 1993. Mouse X chromosome.
Mamm. Genome., 4 Spec No:S269-81 (1993)
Genetic and physical mapping of the biglycan gene on the mouse X chromosome.
Mamm. Genome., 4(1):33-6 (1993)
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?
J. Inherit. Metab. Dis., 16(3):497-500 (1993)
Genetic mapping on the mouse X chromosome of human cDNA clones for the fragile X and Hunter syndromes.
Genomics., Apr;12(4):814-7 (1992)
Long-term expression of human argininosuccinate synthetase in mice following bone marrow transplantation with retrovirus-transduced hematopoietic stem cells.
Hum. Gene Ther., Feb;3(1):3-10 (1992)
Dispersed repetitive elements in mouse genome analysis.
Mamm. Genome., 2(4):207-14 (1992)
Mouse X chromosome.
Mamm. Genome., 3 Spec No:S274-88 (1992)
Physical mapping of the loci Gabra3, DXPas8, CamL1, and Rsvp in a region of the mouse X chromosome homologous to human Xq28.
Genomics., Sep;11(1):154-64 (1991)
The construction of human somatic cell hybrids containing portions of the mouse X chromosome and their use to generate DNA probes via interspersed repetitive sequence polymerase chain reaction.
Genomics., Aug;10(4):961-70 (1991)
Genetic mapping of the mouse X chromosome in the region homologous to human Xq27-Xq28.
Genomics., Apr;9(4):670-7 (1991)
Mouse X chromosome.
Mamm. Genome., 1 Spec No:S318-31 (1991)
Sexually transmitted papillomaviral infection in the male: VI. Simultaneous urethral cytology-ViraPap testing of male consorts of women with genital human papillomaviral infection.
Urology., Jul;36(1):38-41 (1990)
Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata.
Genomics., Jul;7(3):307-12 (1990)
Expression of human argininosuccinate synthetase in murine hematopoietic cells in vivo.
Somat. Cell Mol. Genet., Jul;15(4):289-96 (1989)
Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q).
Am. J. Med. Genet., Apr;29(4):909-15 (1988)
Linkage of tuberous sclerosis to ABO blood group.
Lancet., Oct;2(8562):804-5 (1987)
An E. coli beta-galactosidase cassette suitable for study of eukaryotic expression.
Nucleic Acids Res., Sep;14(17):7130 (1986)
Retrovirus-mediated gene transfer of argininosuccinate synthetase into cultured rodent cells and human citrullinemic fibroblasts.
Cold Spring Harb. Symp. Quant. Biol., 51 Pt 2:1027-32 (1986)
Escherichia coli dam methylase. Physical and catalytic properties of the homogeneous enzyme.
J. Biol. Chem., Mar;257(5):2605-12 (1982)
Escherichia coli K-12 clones that overproduce dam methylase are hypermutable.
J. Bacteriol., Jan;145(1):644-6 (1981)