Literature DB >> 15689440

Mutational spectrum of NSDHL in CHILD syndrome.

D Bornholdt1, A König, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, A Poiares Baptista, E Grosshans, P Vabres, S Niiyama, K Sasaoka, T Tanaka, A L Meiss, P A Treadwell, D Lambert, F Camacho, K-H Grzeschik.   

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Year:  2005        PMID： 15689440      PMCID： PMC1735983          DOI： 10.1136/jmg.2004.024448

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  18 in total

Review 1.  Malformation syndromes caused by disorders of cholesterol synthesis.

Authors:  Forbes D Porter; Gail E Herman
Journal:  J Lipid Res       Date:  2010-10-07       Impact factor: 5.922

Review 2.  Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Authors:  Massimiliano Rossi; Christine M Hall; Raymonde Bouvier; Sophie Collardeau-Frachon; Frédérique Le Breton; Martine Bucourt; Marie Pierre Cordier; Christine Vianey-Saban; Giancarlo Parenti; Generoso Andria; Martine Le Merrer; Patrick Edery; Amaka C Offiah
Journal:  Pediatr Radiol       Date:  2015-02-03

Review 3.  Recent insights into the Smith-Lemli-Opitz syndrome.

Authors:  H Yu; S B Patel
Journal:  Clin Genet       Date:  2005-11       Impact factor: 4.438

4.  Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

Authors:  Keith W McLarren; Tesa M Severson; Christèle du Souich; David W Stockton; Lisa E Kratz; David Cunningham; Glenda Hendson; Ryan D Morin; Diane Wu; Jessica E Paul; Jianghong An; Tanya N Nelson; Athena Chou; Andrea E DeBarber; Louise S Merkens; Jacques L Michaud; Paula J Waters; Jingyi Yin; Barbara McGillivray; Michelle Demos; Guy A Rouleau; Karl-Heinz Grzeschik; Raffaella Smith; Patrick S Tarpey; Debbie Shears; Charles E Schwartz; Jozef Gecz; Michael R Stratton; Laura Arbour; Jane Hurlburt; Margot I Van Allen; Gail E Herman; Yongjun Zhao; Richard Moore; Richard I Kelley; Steven J M Jones; Robert D Steiner; F Lucy Raymond; Marco A Marra; Cornelius F Boerkoel
Journal:  Am J Hum Genet       Date:  2010-12-10       Impact factor: 11.025

5.  Expression profile of NSDHL in human peripheral tissues.

Authors:  Marie Morimoto; Christèle du Souich; Joanne Trinh; Keith W McLarren; Cornelius F Boerkoel; Glenda Hendson
Journal:  J Mol Histol       Date:  2011-11-24       Impact factor: 2.611

6.  Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.

Authors:  David Cunningham; Andrea E DeBarber; Natalie Bir; Laura Binkley; Louise S Merkens; Robert D Steiner; Gail E Herman
Journal:  Hum Mol Genet       Date:  2015-02-04       Impact factor: 6.150

7.  Homology modeling and site-directed mutagenesis reveal catalytic key amino acids of 3beta-hydroxysteroid-dehydrogenase/C4-decarboxylase from Arabidopsis.

Authors:  Alain Rahier; Marc Bergdoll; Geneviève Génot; Florence Bouvier; Bilal Camara
Journal:  Plant Physiol       Date:  2009-02-13       Impact factor: 8.340

8.  MondoA regulates gene expression in cholesterol biosynthesis-associated pathways required for zebrafish epiboly.

Authors:  Meltem Weger; Benjamin D Weger; Andrea Schink; Masanari Takamiya; Johannes Stegmaier; Cédric Gobet; Alice Parisi; Andrei Yu Kobitski; Jonas Mertes; Nils Krone; Uwe Strähle; Gerd Ulrich Nienhaus; Ralf Mikut; Frédéric Gachon; Philipp Gut; Thomas Dickmeis
Journal:  Elife       Date:  2020-09-24       Impact factor: 8.140

9.  Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications.

Authors:  Thiago C Genaro-Mattos; Korinne B Klingelsmith; Luke B Allen; Allison Anderson; Keri A Tallman; Ned A Porter; Zeljka Korade; Károly Mirnics
Journal:  ACS Pharmacol Transl Sci       Date:  2021-02-17

10.  Identification of a novel polymorphism in X-linked sterol-4-alpha-carboxylate 3-dehydrogenase (Nsdhl) associated with reduced high-density lipoprotein cholesterol levels in I/LnJ mice.

Authors:  David J Bautz; Karl W Broman; David W Threadgill
Journal:  G3 (Bethesda)       Date:  2013-10-03       Impact factor: 3.154
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