Literature DB >> 23900269

Congenital disorders of glycosylation: other causes of ichthyosis.

Jaak Jaeken1, Daisy Rymen2, Gert Matthijs3.   

Abstract

Entities:  

Mesh：

Year:  2013        PMID： 23900269      PMCID： PMC3953898          DOI： 10.1038/ejhg.2013.168

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  8 in total

Review 1.  Inherited ichthyoses/generalized Mendelian disorders of cornification.

Authors:  Matthias Schmuth; Verena Martinz; Andreas R Janecke; Christine Fauth; Anna Schossig; Johannes Zschocke; Robert Gruber
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

2.  A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.

Authors:  Christian Kranz; Christoph Jungeblut; Jonas Denecke; Anne Erlekotte; Christina Sohlbach; Volker Debus; Hans Gerd Kehl; Erik Harms; Anna Reith; Sonja Reichel; Helfried Grobe; Gerhard Hammersen; Ulrich Schwarzer; Thorsten Marquardt
Journal:  Am J Hum Genet       Date:  2007-01-31       Impact factor: 11.025

3.  Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Authors:  Bobby G Ng; Karl Hackmann; Melanie A Jones; Alexey M Eroshkin; Ping He; Roy Wiliams; Shruti Bhide; Vincent Cantagrel; Joseph G Gleeson; Amy S Paller; Rhonda E Schnur; Sigrid Tinschert; Janice Zunich; Madhuri R Hegde; Hudson H Freeze
Journal:  Am J Hum Genet       Date:  2012-03-22       Impact factor: 11.025

4.  A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).

Authors:  C Kranz; J Denecke; M A Lehrman; S Ray; P Kienz; G Kreissel; D Sagi; J Peter-Katalinic; H H Freeze; T Schmid; S Jackowski-Dohrmann; E Harms; T Marquardt
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

5.  MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

Authors:  B Schenk; T Imbach; C G Frank; C E Grubenmann; G V Raymond; H Hurvitz; I Korn-Lubetzki; S Revel-Vik; A Raas-Rotschild; A S Luder; J Jaeken; E G Berger; G Matthijs; T Hennet; M Aebi
Journal:  J Clin Invest       Date:  2001-12       Impact factor: 14.808

6.  SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Authors:  Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; Bassam R Ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
Journal:  Cell       Date:  2010-07-15       Impact factor: 41.582

7.  A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

Authors:  L Al-Gazali; J Hertecant; K Algawi; H El Teraifi; M Dattani
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

8.  Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Authors:  Dirk J Lefeber; Arjan P M de Brouwer; Eva Morava; Moniek Riemersma; Janneke H M Schuurs-Hoeijmakers; Birgit Absmanner; Kiek Verrijp; Willem M R van den Akker; Karin Huijben; Gerry Steenbergen; Jeroen van Reeuwijk; Adam Jozwiak; Nili Zucker; Avraham Lorber; Martin Lammens; Carlos Knopf; Hans van Bokhoven; Stephanie Grünewald; Ludwig Lehle; Livia Kapusta; Hanna Mandel; Ron A Wevers
Journal:  PLoS Genet       Date:  2011-12-29       Impact factor: 5.917
  8 in total
  5 in total

Review 1.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

Review 2.  Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Authors:  Carlos R Ferreira; Diego Martinelli; Nenad Blau
Journal:  Mol Genet Metab       Date:  2021-07-21       Impact factor: 4.204

3.  DeepNGlyPred: A Deep Neural Network-Based Approach for Human N-Linked Glycosylation Site Prediction.

Authors:  Subash C Pakhrin; Kiyoko F Aoki-Kinoshita; Doina Caragea; Dukka B Kc
Journal:  Molecules       Date:  2021-12-02       Impact factor: 4.411

Review 4.  Genetics of Inherited Ichthyoses and Related Diseases.

Authors:  Judith Fischer; Emmanuelle Bourrat
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

5.  Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.

Authors:  Katalin Komlosi; Olivier Claris; Sophie Collardeau-Frachon; Julia Kopp; Ingrid Hausser; Juliette Mazereeuw-Hautier; Nathalie Jonca; Andreas D Zimmer; Damien Sanlaville; Judith Fischer
Journal:  Front Genet       Date:  2021-12-08       Impact factor: 4.599
  5 in total

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