Literature DB >> 14684694

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

J C Oosterwijk, S Mansour, G van Noort, H R Waterham, C M Hall, R C M Hennekam.   

Abstract

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Year:  2003        PMID： 14684694      PMCID： PMC1735340          DOI： 10.1136/jmg.40.12.937

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


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  23 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

2.  Lamin B receptor regulates the growth and maturation of myeloid progenitors via its sterol reductase domain: implications for cholesterol biosynthesis in regulating myelopoiesis.

Authors:  Gayathri Subramanian; Pulkit Chaudhury; Krishnakumar Malu; Samantha Fowler; Rahul Manmode; Deepali Gotur; Monika Zwerger; David Ryan; Rita Roberti; Peter Gaines
Journal:  J Immunol       Date:  2011-12-02       Impact factor: 5.422

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

Authors:  Durgadas P Kasbekar
Journal:  J Biosci       Date:  2004-12       Impact factor: 1.826

Review 4.  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 5.  Diseases of the nuclear envelope.

Authors:  Howard J Worman; Cecilia Ostlund; Yuexia Wang
Journal:  Cold Spring Harb Perspect Biol       Date:  2010-02       Impact factor: 10.005

Review 6.  Diseases of the Nucleoskeleton.

Authors:  James M Holaska
Journal:  Compr Physiol       Date:  2016-09-15       Impact factor: 9.090

7.  Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Authors:  Frances M Platt; Christopher Wassif; Alexandria Colaco; Andrea Dardis; Emyr Lloyd-Evans; Bruno Bembi; Forbes D Porter
Journal:  Annu Rev Genomics Hum Genet       Date:  2014       Impact factor: 8.929

8.  The lamin B receptor under transcriptional control of C/EBPepsilon is required for morphological but not functional maturation of neutrophils.

Authors:  Tatiana V Cohen; Kimberly D Klarmann; Krisada Sakchaisri; Jason P Cooper; Douglas Kuhns; Miriam Anver; Peter F Johnson; Simon C Williams; Jonathan R Keller; Colin L Stewart
Journal:  Hum Mol Genet       Date:  2008-07-11       Impact factor: 6.150

9.  Case of acquired or pseudo-Pelger-Huët anomaly.

Authors:  Mohamed S Ayan; Abd Almonem M Abdelrahman; Nabin Khanal; Osama S Elsallabi; Nathan C Birch
Journal:  Oxf Med Case Reports       Date:  2015-04-01

10.  Induction of a massive endoplasmic reticulum and perinuclear space expansion by expression of lamin B receptor mutants and the related sterol reductases TM7SF2 and DHCR7.

Authors:  Monika Zwerger; Thorsten Kolb; Karsten Richter; Iakowos Karakesisoglou; Harald Herrmann
Journal:  Mol Biol Cell       Date:  2009-11-25       Impact factor: 4.138
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