Literature DB >> 19840616

COL4A1 mutation in preterm intraventricular hemorrhage.

Kaya Bilguvar1, Michael L DiLuna, Matthew J Bizzarro, Yasar Bayri, Karen C Schneider, Richard P Lifton, Murat Gunel, Laura R Ment.   

Abstract

Intraventricular hemorrhage is a common complication of preterm infants. Mutations in the type IV procollagen gene, COL4A1, are associated with cerebral small vessel disease with hemorrhage in adults and fetuses. We report a rare variant in COL4A1 associated with intraventricular hemorrhage in dizygotic preterm twins. These results expand the spectrum of diseases attributable to mutations in type IV procollagens.

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Year:  2009        PMID： 19840616      PMCID： PMC2884156          DOI： 10.1016/j.jpeds.2009.04.014

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  13 in total

1.  Collagen IV is essential for basement membrane stability but dispensable for initiation of its assembly during early development.

Authors:  Ernst Pöschl; Ursula Schlötzer-Schrehardt; Bent Brachvogel; Kenji Saito; Yoshifumi Ninomiya; Ulrike Mayer
Journal:  Development       Date:  2004-03-03       Impact factor: 6.868

2.  Sequence variants in SLITRK1 are associated with Tourette's syndrome.

Authors:  Jesse F Abelson; Kenneth Y Kwan; Brian J O'Roak; Danielle Y Baek; Althea A Stillman; Thomas M Morgan; Carol A Mathews; David L Pauls; Mladen-Roko Rasin; Murat Gunel; Nicole R Davis; A Gulhan Ercan-Sencicek; Danielle H Guez; John A Spertus; James F Leckman; Leon S Dure; Roger Kurlan; Harvey S Singer; Donald L Gilbert; Anita Farhi; Angeliki Louvi; Richard P Lifton; Nenad Sestan; Matthew W State
Journal:  Science       Date:  2005-10-14       Impact factor: 47.728

3.  Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification of the first two Col4a2 mutant alleles.

Authors:  Jack Favor; Christian Johannes Gloeckner; Dirk Janik; Martina Klempt; Angelika Neuhäuser-Klaus; Walter Pretsch; Wolfgang Schmahl; Leticia Quintanilla-Fend
Journal:  Genetics       Date:  2006-12-18       Impact factor: 4.562

4.  The NC1 domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes.

Authors:  D B Borza; O Bondar; Y Ninomiya; Y Sado; I Naito; P Todd; B G Hudson
Journal:  J Biol Chem       Date:  2001-05-25       Impact factor: 5.157

5.  Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

Authors:  John F Bateman; Richard Wilson; Susanna Freddi; Shireen R Lamandé; Ravi Savarirayan
Journal:  Hum Mutat       Date:  2005-06       Impact factor: 4.878

6.  Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Authors:  Douglas B Gould; F Campbell Phalan; Guido J Breedveld; Saskia E van Mil; Richard S Smith; John C Schimenti; Umberto Aguglia; Marjo S van der Knaap; Peter Heutink; Simon W M John
Journal:  Science       Date:  2005-05-20       Impact factor: 47.728

7.  Outcome of extremely low birth weight survivors at school age: the influence of perinatal parameters on neurodevelopment.

Authors:  Achim-Peter Neubauer; Wolfgang Voss; Evelyn Kattner
Journal:  Eur J Pediatr       Date:  2007-02-27       Impact factor: 3.183

8.  Long-term outcome after neonatal intraparenchymal echodensities with porencephaly.

Authors:  R L Sherlock; A R Synnes; R E Grunau; L Holsti; P Hubber-Richard; D Johannesen; M F Whitfield
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2007-08-17       Impact factor: 5.747

9.  COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage.

Authors:  Linda S de Vries; Corine Koopman; Floris Groenendaal; Mary Van Schooneveld; Frans W Verheijen; Elly Verbeek; Theo D Witkamp; H Bart van der Worp; Grazia Mancini
Journal:  Ann Neurol       Date:  2009-01       Impact factor: 10.422

10.  COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps.

Authors:  Emmanuelle Plaisier; Olivier Gribouval; Sonia Alamowitch; Béatrice Mougenot; Catherine Prost; Marie Christine Verpont; Béatrice Marro; Thomas Desmettre; Salomon Yves Cohen; Etienne Roullet; Michel Dracon; Michel Fardeau; Tom Van Agtmael; Dontscho Kerjaschki; Corinne Antignac; Pierre Ronco
Journal:  N Engl J Med       Date:  2007-12-27       Impact factor: 91.245
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  21 in total

1.  Basement membrane and stroke.

Authors:  Yao Yao
Journal:  J Cereb Blood Flow Metab       Date:  2018-09-18       Impact factor: 6.200

2.  COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

Authors:  Marion Jeanne; Cassandre Labelle-Dumais; Jeff Jorgensen; W Berkeley Kauffman; Grazia M Mancini; Jack Favor; Valerie Valant; Steven M Greenberg; Jonathan Rosand; Douglas B Gould
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

Review 3.  Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

Authors:  Marion Jeanne; Douglas B Gould
Journal:  Matrix Biol       Date:  2016-10-26       Impact factor: 11.583

Review 4.  Ventriculoperitoneal shunt as a primary neurosurgical procedure in newborn posthemorrhagic hydrocephalus: report of a series of 47 shunted patients.

Authors:  L Romero; B Ros; F Ríus; L González; J M Medina; A Martín; A Carrasco; M A Arráez
Journal:  Childs Nerv Syst       Date:  2013-07-24       Impact factor: 1.475

5.  [Clinical features and COL4A1 genotype of a toddler with hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome].

Authors:  Li-Dan Shan; Jing Peng; Hui Xiao; Li-Wen Wu; Hao-Lin Duan; Nan Pang; Kessi Miriam; Fei Yin
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2019-08

Review 6.  Stroke-related translational research.

Authors:  Louis R Caplan; Juan Arenillas; Steven C Cramer; Anne Joutel; Eng H Lo; James Meschia; Sean Savitz; Elizabeth Tournier-Lasserve
Journal:  Arch Neurol       Date:  2011-05-09

7.  COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.

Authors:  Yi-Chinn Weng; Akshata Sonni; Cassandre Labelle-Dumais; Michelle de Leau; W Berkeley Kauffman; Marion Jeanne; Alessandro Biffi; Steven M Greenberg; Jonathan Rosand; Douglas B Gould
Journal:  Ann Neurol       Date:  2012-04       Impact factor: 10.422

Review 8.  Pathogenesis and prevention of intraventricular hemorrhage.

Authors:  Praveen Ballabh
Journal:  Clin Perinatol       Date:  2013-12-12       Impact factor: 3.430

9.  Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency.

Authors:  Robin Lemmens; Alessandra Maugeri; Hans W M Niessen; An Goris; Thomas Tousseyn; Philippe Demaerel; Anniek Corveleyn; Wim Robberecht; Marjo S van der Knaap; Vincent N Thijs; Petra J G Zwijnenburg
Journal:  Hum Mol Genet       Date:  2012-10-12       Impact factor: 6.150

10.  Candidate gene analysis: severe intraventricular hemorrhage in inborn preterm neonates.

Authors:  Ulrika Adén; Aiping Lin; Waldemar Carlo; Alan Leviton; Jeffrey C Murray; Mikko Hallman; Richard P Lifton; Heping Zhang; Laura R Ment
Journal:  J Pediatr       Date:  2013-07-26       Impact factor: 4.406
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