Expression profile of NSDHL in human peripheral tissues

[1]  G. Herman,et al.  Malformation syndromes caused by disorders of cholesterol synthesis , 2011, Journal of Lipid Research.

[2]  Steven J. M. Jones,et al.  Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. , 2010, American journal of human genetics.

[3]  K. Grzeschik,et al.  Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene. , 2010, European journal of dermatology : EJD.

[4]  Manjula Jain,et al.  CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. , 2010, Dermatology online journal.

[5]  R. Happle.  The group of epidermal nevus syndromes Part I. Well defined phenotypes. , 2010, Journal of the American Academy of Dermatology.

[6]  K. Grzeschik,et al.  Donor Dominance Cures CHILD Nevus , 2010, Dermatology.

[7]  C. Boerkoel,et al.  Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa(1H)/+ mouse. , 2009, Molecular genetics and metabolism.

[8]  R. Happle,et al.  CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder , 2009, Journal of the European Academy of Dermatology and Venereology : JEADV.

[9]  A. Rump,et al.  Characterization of a new X‐linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus , 2009, American journal of medical genetics. Part A.

[10]  K. Grzeschik,et al.  CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene , 2005, Dermatology.

[11]  K. Grzeschik,et al.  Mutational spectrum of NSDHL in CHILD syndrome , 2005, Journal of Medical Genetics.

[12]  H. Caldas,et al.  NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. , 2003, Human molecular genetics.

[13]  G. Herman,et al.  Left‐sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene , 2003, American journal of medical genetics. Part A.

[14]  M. Bard,et al.  Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast. , 2003, Molecular genetics and metabolism.

[15]  R. Breitling,et al.  Embryonic expression of cholesterogenic genes is restricted to distinct domains and colocalizes with apoptotic regions in mice. , 2003, Brain research. Molecular brain research.

[16]  H. Soyer,et al.  A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. , 2002, Journal of the American Academy of Dermatology.

[17]  H. Sone,et al.  Sterol regulatory element-binding proteins induce an entire pathway of cholesterol synthesis. , 2001, Biochemical and biophysical research communications.

[18]  K. Grzeschik,et al.  Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. , 2000, American journal of medical genetics.

[19]  W. Miller,et al.  The gene mutated in bare patches and striated mice encodes a novel 3β-hydroxysteroid dehydrogenase , 1999, Nature Genetics.

[20]  Martin Vingron,et al.  Gene expression screening in Xenopus identifies molecular pathways, predicts gene function and provides a global view of embryonic patterning , 1998, Mechanisms of Development.

[21]  T. Dirksen.  The in vitro incorporation of acetate-14C into the lipids of new born rat calvaria. , 1969, Archives of biochemistry and biophysics.

[22]  J. Dietschy,et al.  Cholesterol synthesis by the gastrointestinal tract: localization and mechanisms of control. , 1965, The Journal of clinical investigation.

[23]  P. Srere,et al.  The Extrahepatic Synthesis of Cholesterol , 1950 .

[24]  K. Bloch,et al.  Synthesis of cholesterol in surviving liver. , 1946, The Journal of biological chemistry.

[25]  N. Leslie,et al.  GeneReviews at GeneTests Medical Genetics Information Resource (Database Online) , 2012 .

[26]  H. Caldas,et al.  Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme. , 2005, Molecular genetics and metabolism.

[27]  R. Happle,et al.  The CHILD syndrome , 1980, European Journal of Pediatrics.

[28]  S. McCreadie,et al.  Q--congenital hemidysplasia with ichthyosis. , 1974, Birth defects original article series.