Literature DB >> 15625388

Benign anomaly to malign dysplasia: variable expression of lamin B receptor mutations in humans.

Durgadas P Kasbekar1.   

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Year:  2004        PMID： 15625388     DOI： 10.1007/BF02712103

Source DB:  PubMed          Journal:  J Biosci        ISSN： 0250-5991            Impact factor:   1.826


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  7 in total

Review 1.  Congenital abnormalities reported in Pelger-Huët homozygosity as compared to Greenberg/HEM dysplasia: highly variable expression of allelic phenotypes.

Authors:  J C Oosterwijk; S Mansour; G van Noort; H R Waterham; C M Hall; R C M Hennekam
Journal:  J Med Genet       Date:  2003-12       Impact factor: 6.318

2.  Cloning and expression of sterol Delta 14-reductase from bovine liver.

Authors:  Rita Roberti; Anna Maria Bennati; Giovanni Galli; Donatella Caruso; Bruno Maras; Cristina Aisa; Tommaso Beccari; Maria Agnese Della Fazia; Giuseppe Servillo
Journal:  Eur J Biochem       Date:  2002-01

3.  The erg-3 (sterol delta14,15-reductase) gene of Neurospora crassa: generation of null mutants by repeat-induced point mutation and complementation by proteins chimeric for human lamin B receptor sequences.

Authors:  A Prakash; S Sengupta; K Aparna; D P Kasbekar
Journal:  Microbiology       Date:  1999-06       Impact factor: 2.777

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

Authors:  A Prakash; Durgadas P Kasbekar
Journal:  J Biosci       Date:  2002-03       Impact factor: 1.826

5.  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.

Authors:  Hans R Waterham; Janet Koster; Petra Mooyer; Gerard van Noort Gv; Richard I Kelley; William R Wilcox; Ronald J A Wanders; Raoul C M Hennekam; Jan C Oosterwijk
Journal:  Am J Hum Genet       Date:  2003-02-28       Impact factor: 11.025

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

Authors:  Leonard D Shultz; Bonnie L Lyons; Lisa M Burzenski; Bruce Gott; Rebecca Samuels; Peter A Schweitzer; Christine Dreger; Harald Herrmann; Vera Kalscheuer; Ada L Olins; Donald E Olins; Karl Sperling; Katrin Hoffmann
Journal:  Hum Mol Genet       Date:  2003-01-01       Impact factor: 6.150

7.  Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).

Authors:  Katrin Hoffmann; Christine K Dreger; Ada L Olins; Donald E Olins; Leonard D Shultz; Barbara Lucke; Hartmut Karl; Reinhard Kaps; Dietmar Müller; Amparo Vayá; Justo Aznar; Russell E Ware; Norberto Sotelo Cruz; Tom H Lindner; Harald Herrmann; André Reis; Karl Sperling
Journal:  Nat Genet       Date:  2002-07-15       Impact factor: 38.330
  7 in total

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